메뉴 건너뛰기




Volumn 35, Issue 4, 2015, Pages 671-694

Severe Combined Immunodeficiency Disorders

Author keywords

DiGeorge anomaly; Gene therapy; Newborn screening; Severe combined immunodeficiency disease; Transplantation

Indexed keywords

ALLOTRANSPLANTATION; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; CAUSAL ATTRIBUTION; CLINICAL EVALUATION; CONGENITAL ATHYMIA; CONGENITAL DISORDER; DIGEORGE SYNDROME; GENE THERAPY; GENETIC ASSOCIATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; MANAGED CARE; MEDICAL HISTORY; NATURAL KILLER CELL; NEWBORN SCREENING; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; THYMUS TRANSPLANTATION; TREATMENT OUTCOME; DIFFERENTIAL DIAGNOSIS; DISEASE MANAGEMENT; NEWBORN;

EID: 84943738290     PISSN: 08898561     EISSN: 15578607     Source Type: Journal    
DOI: 10.1016/j.iac.2015.07.002     Document Type: Review
Times cited : (65)

References (164)
  • 1
    • 71149121906 scopus 로고    scopus 로고
    • Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management
    • Griffith L.M., Cowan M.J., Notarangelo L.D., et al. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 2009, 124:1152-1160.e12.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1152-1160.e12
    • Griffith, L.M.1    Cowan, M.J.2    Notarangelo, L.D.3
  • 2
    • 84897417058 scopus 로고    scopus 로고
    • Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience
    • Shearer W.T., Dunn E., Notarangelo L.D., et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 2014, 133:1092-1098.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 1092-1098
    • Shearer, W.T.1    Dunn, E.2    Notarangelo, L.D.3
  • 3
    • 0027403374 scopus 로고
    • Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi M., Yi H., Rosenblatt H.M., et al. Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993, 73:147-157.
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1    Yi, H.2    Rosenblatt, H.M.3
  • 4
    • 0027320217 scopus 로고
    • The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
    • Puck J.M., Deschenes S.M., Porter J.C., et al. The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 1993, 2:1099-1104.
    • (1993) Hum Mol Genet , vol.2 , pp. 1099-1104
    • Puck, J.M.1    Deschenes, S.M.2    Porter, J.C.3
  • 5
    • 84900846113 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: an update on the classification from the International Union Of Immunological Societies Expert Committee for primary immunodeficiency
    • Al-Herz W., Bousfiha A., Casanova J.-L., et al. Primary immunodeficiency diseases: an update on the classification from the International Union Of Immunological Societies Expert Committee for primary immunodeficiency. Front Immunol 2014, 5:162.
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.-L.3
  • 6
    • 84895064425 scopus 로고    scopus 로고
    • Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies
    • Nijman I.J., van Montfrans J.M., Hoogstraat M., et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol 2014, 133:529-534.e1.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 529-534.e1
    • Nijman, I.J.1    van Montfrans, J.M.2    Hoogstraat, M.3
  • 7
    • 84901277697 scopus 로고    scopus 로고
    • Human lymphoid development in the absence of common γ-chain receptor signaling
    • Kohn L.A., Seet C.S., Scholes J., et al. Human lymphoid development in the absence of common γ-chain receptor signaling. J Immunol 2014, 192(11):5050-5058.
    • (2014) J Immunol , vol.192 , Issue.11 , pp. 5050-5058
    • Kohn, L.A.1    Seet, C.S.2    Scholes, J.3
  • 8
    • 9644295710 scopus 로고    scopus 로고
    • Cytokines and immunodeficiency diseases: critical roles of the γc-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways
    • Kovanen P.E., Leonard W.J. Cytokines and immunodeficiency diseases: critical roles of the γc-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways. Immunol Rev 2004, 202:67-83.
    • (2004) Immunol Rev , vol.202 , pp. 67-83
    • Kovanen, P.E.1    Leonard, W.J.2
  • 9
    • 0034667634 scopus 로고    scopus 로고
    • A partial deficiency of interleukin-7Rα is sufficient to abrogate T-cell development and cause severe combined immunodeficiency
    • Roifman C.M., Zhang J., Chitayat D., et al. A partial deficiency of interleukin-7Rα is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood 2000, 96:2803-2807.
    • (2000) Blood , vol.96 , pp. 2803-2807
    • Roifman, C.M.1    Zhang, J.2    Chitayat, D.3
  • 10
    • 12444295407 scopus 로고    scopus 로고
    • Roles for common cytokine receptor γ-chain-dependent cytokines in the generation, differentiation, and maturation of NK cell precursors and peripheral NK Cells in vivo
    • Vosshenrich C.A.J., Ranson T., Samson S.I., et al. Roles for common cytokine receptor γ-chain-dependent cytokines in the generation, differentiation, and maturation of NK cell precursors and peripheral NK Cells in vivo. J Immunol 2005, 174:1213-1221.
    • (2005) J Immunol , vol.174 , pp. 1213-1221
    • Vosshenrich, C.A.J.1    Ranson, T.2    Samson, S.I.3
  • 11
    • 80052661219 scopus 로고    scopus 로고
    • Role of common-gamma chain cytokines in NK cell development and function: perspectives for immunotherapy
    • Meazza R., Azzarone B., Orengo A.M., et al. Role of common-gamma chain cytokines in NK cell development and function: perspectives for immunotherapy. J Biomed Biotechnol 2011, 2011:861920.
    • (2011) J Biomed Biotechnol , vol.2011 , pp. 861920
    • Meazza, R.1    Azzarone, B.2    Orengo, A.M.3
  • 12
    • 0033998583 scopus 로고    scopus 로고
    • Intrinsic defects of B cell function in X-linked severe combined immunodeficiency
    • White H., Thrasher A., Veys P., et al. Intrinsic defects of B cell function in X-linked severe combined immunodeficiency. Eur J Immunol 2000, 30:732-737.
    • (2000) Eur J Immunol , vol.30 , pp. 732-737
    • White, H.1    Thrasher, A.2    Veys, P.3
  • 13
    • 2542461255 scopus 로고    scopus 로고
    • Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
    • Buckley R.H. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004, 22:625-655.
    • (2004) Annu Rev Immunol , vol.22 , pp. 625-655
    • Buckley, R.H.1
  • 14
    • 0033559793 scopus 로고    scopus 로고
    • Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain
    • Cacalano N.A., Migone T.S., Bazan F., et al. Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. EMBO J 1999, 18:1549-1558.
    • (1999) EMBO J , vol.18 , pp. 1549-1558
    • Cacalano, N.A.1    Migone, T.S.2    Bazan, F.3
  • 15
    • 0029164841 scopus 로고
    • Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
    • Macchi P., Villa A., Giliani S., et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995, 377:65-68.
    • (1995) Nature , vol.377 , pp. 65-68
    • Macchi, P.1    Villa, A.2    Giliani, S.3
  • 16
    • 0037097787 scopus 로고    scopus 로고
    • A founder mutation in artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans
    • Li L., Moshous D., Zhou Y., et al. A founder mutation in artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol 2002, 168:6323-6329.
    • (2002) J Immunol , vol.168 , pp. 6323-6329
    • Li, L.1    Moshous, D.2    Zhou, Y.3
  • 17
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous D., Callebaut I., de Chasseval R., et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001, 105:177-186.
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1    Callebaut, I.2    de Chasseval, R.3
  • 18
    • 0032541313 scopus 로고    scopus 로고
    • A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
    • Nicolas N., Moshous D., Cavazzana-Calvo M., et al. A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. J Exp Med 1998, 188:627-634.
    • (1998) J Exp Med , vol.188 , pp. 627-634
    • Nicolas, N.1    Moshous, D.2    Cavazzana-Calvo, M.3
  • 19
    • 61749104245 scopus 로고    scopus 로고
    • A DNA-PKcs mutation in a radiosensitive T(-)B(-) SCID patient inhibits Artemis activation and nonhomologous end-joining
    • van der Burg M., Ijspeert H., Verkaik N.S., et al. A DNA-PKcs mutation in a radiosensitive T(-)B(-) SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest 2009, 119:91-98.
    • (2009) J Clin Invest , vol.119 , pp. 91-98
    • van der Burg, M.1    Ijspeert, H.2    Verkaik, N.S.3
  • 20
    • 31044446450 scopus 로고    scopus 로고
    • A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
    • van der Burg M., van Veelen L.R., Verkaik N.S., et al. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest 2006, 116:137-145.
    • (2006) J Clin Invest , vol.116 , pp. 137-145
    • van der Burg, M.1    van Veelen, L.R.2    Verkaik, N.S.3
  • 21
    • 33645785057 scopus 로고    scopus 로고
    • A severe form of human combined immunodeficiency due to mutations in DNA Ligase IV
    • Enders A., Fisch P., Schwarz K., et al. A severe form of human combined immunodeficiency due to mutations in DNA Ligase IV. J Immunol 2006, 176:5060-5068.
    • (2006) J Immunol , vol.176 , pp. 5060-5068
    • Enders, A.1    Fisch, P.2    Schwarz, K.3
  • 22
    • 30944455282 scopus 로고    scopus 로고
    • Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV
    • Buck D., Moshous D., de Chasseval R., et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol 2006, 36:224-235.
    • (2006) Eur J Immunol , vol.36 , pp. 224-235
    • Buck, D.1    Moshous, D.2    de Chasseval, R.3
  • 23
    • 31044440630 scopus 로고    scopus 로고
    • Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
    • Buck D., Malivert L., de Chasseval R., et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006, 124:287-299.
    • (2006) Cell , vol.124 , pp. 287-299
    • Buck, D.1    Malivert, L.2    de Chasseval, R.3
  • 24
    • 0031740732 scopus 로고    scopus 로고
    • Defective IL7R expression in T-B+NK+ severe combined immunodeficiency
    • Puel A., Ziegler S.F., Buckley R.H., et al. Defective IL7R expression in T-B+NK+ severe combined immunodeficiency. Nat Genet 1998, 20:394-397.
    • (1998) Nat Genet , vol.20 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3
  • 25
    • 35748939414 scopus 로고    scopus 로고
    • Different composition of the human and the mouse γδ T cell receptor explains different phenotypes of CD3γ and CD3δ immunodeficiencies
    • Siegers G.M., Swamy M., Fernández-Malavé E., et al. Different composition of the human and the mouse γδ T cell receptor explains different phenotypes of CD3γ and CD3δ immunodeficiencies. J Exp Med 2007, 204:2537-2544.
    • (2007) J Exp Med , vol.204 , pp. 2537-2544
    • Siegers, G.M.1    Swamy, M.2    Fernández-Malavé, E.3
  • 26
    • 14544288042 scopus 로고    scopus 로고
    • Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3
    • de Saint Basile G., Geissmann F., Flori E., et al. Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3. J Clin Invest 2004, 114:1512-1517.
    • (2004) J Clin Invest , vol.114 , pp. 1512-1517
    • de Saint Basile, G.1    Geissmann, F.2    Flori, E.3
  • 27
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency
    • Dadi H.K., Simon A.J., Roifman C.M. Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency. N Engl J Med 2003, 349:1821-1828.
    • (2003) N Engl J Med , vol.349 , pp. 1821-1828
    • Dadi, H.K.1    Simon, A.J.2    Roifman, C.M.3
  • 28
    • 80053392329 scopus 로고    scopus 로고
    • A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ(-)Tγδ(+)B(+)NK(+) human SCID
    • Gil J., Busto E.M., Garcillán B., et al. A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ(-)Tγδ(+)B(+)NK(+) human SCID. J Clin Invest 2011, 121:3872-3876.
    • (2011) J Clin Invest , vol.121 , pp. 3872-3876
    • Gil, J.1    Busto, E.M.2    Garcillán, B.3
  • 29
    • 33646378182 scopus 로고    scopus 로고
    • Inherited and somatic CD3ζ mutations in a patient with T-cell deficiency
    • Rieux-Laucat F., Hivroz C., Lim A., et al. Inherited and somatic CD3ζ mutations in a patient with T-cell deficiency. N Engl J Med 2006, 354:1913-1921.
    • (2006) N Engl J Med , vol.354 , pp. 1913-1921
    • Rieux-Laucat, F.1    Hivroz, C.2    Lim, A.3
  • 30
    • 34147126533 scopus 로고    scopus 로고
    • T(-)B(+)NK(+) severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex
    • Roberts J.L., Lauritsen J.P.H., Cooney M., et al. T(-)B(+)NK(+) severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex. Blood 2007, 109:3198-3206.
    • (2007) Blood , vol.109 , pp. 3198-3206
    • Roberts, J.L.1    Lauritsen, J.P.H.2    Cooney, M.3
  • 31
    • 0027770892 scopus 로고
    • T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma
    • Arnaiz-Villena A., Timon M., Rodriguez-Gallego C., et al. T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma. Immunodeficiency 1993, 4:121-129.
    • (1993) Immunodeficiency , vol.4 , pp. 121-129
    • Arnaiz-Villena, A.1    Timon, M.2    Rodriguez-Gallego, C.3
  • 32
    • 0026729150 scopus 로고
    • Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor
    • Arnaiz-Villena A., Timon M., Corell A., et al. Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor. N Engl J Med 1992, 327:529-533.
    • (1992) N Engl J Med , vol.327 , pp. 529-533
    • Arnaiz-Villena, A.1    Timon, M.2    Corell, A.3
  • 33
    • 0035863892 scopus 로고    scopus 로고
    • A deletion in the gene encoding the CD45 antigen in a patient with SCID
    • Tchilian E.Z., Wallace D.L., Wells R.S., et al. A deletion in the gene encoding the CD45 antigen in a patient with SCID. J Immunol 2001, 166:1308-1313.
    • (2001) J Immunol , vol.166 , pp. 1308-1313
    • Tchilian, E.Z.1    Wallace, D.L.2    Wells, R.S.3
  • 34
    • 0034064779 scopus 로고    scopus 로고
    • Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
    • Kung C., Pingel J.T., Heikinheimo M., et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 2000, 6:343-345.
    • (2000) Nat Med , vol.6 , pp. 343-345
    • Kung, C.1    Pingel, J.T.2    Heikinheimo, M.3
  • 35
    • 84862988977 scopus 로고    scopus 로고
    • CD45-deficient severe combined immunodeficiency caused by uniparental disomy
    • Roberts J.L., Buckley R.H., Luo B., et al. CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Proc Natl Acad Sci U S A 2012, 109:10456-10461.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 10456-10461
    • Roberts, J.L.1    Buckley, R.H.2    Luo, B.3
  • 36
    • 54549117897 scopus 로고    scopus 로고
    • The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency
    • Shiow L.R., Roadcap D.W., Paris K., et al. The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol 2008, 9:1307-1315.
    • (2008) Nat Immunol , vol.9 , pp. 1307-1315
    • Shiow, L.R.1    Roadcap, D.W.2    Paris, K.3
  • 37
    • 63249106283 scopus 로고    scopus 로고
    • Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion
    • Shiow L.R., Paris K., Akana M.C., et al. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol 2009, 131:24-30.
    • (2009) Clin Immunol , vol.131 , pp. 24-30
    • Shiow, L.R.1    Paris, K.2    Akana, M.C.3
  • 38
    • 33747106194 scopus 로고    scopus 로고
    • Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis
    • Föger N., Rangell L., Danilenko D.M., et al. Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis. Science 2006, 313:839-842.
    • (2006) Science , vol.313 , pp. 839-842
    • Föger, N.1    Rangell, L.2    Danilenko, D.M.3
  • 39
    • 0017195804 scopus 로고
    • Purine dysfunction in cells from patients with adenosine deaminase deficiency
    • Benke P.J., Dittmar D. Purine dysfunction in cells from patients with adenosine deaminase deficiency. Pediatr Res 1976, 10:642-646.
    • (1976) Pediatr Res , vol.10 , pp. 642-646
    • Benke, P.J.1    Dittmar, D.2
  • 40
    • 0017054309 scopus 로고
    • Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase
    • Cohen A., Doyle D., Martin D.W., et al. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med 1976, 295:1449-1454.
    • (1976) N Engl J Med , vol.295 , pp. 1449-1454
    • Cohen, A.1    Doyle, D.2    Martin, D.W.3
  • 41
    • 0027201145 scopus 로고
    • Direct association of adenosine deaminase with a T cell activation antigen, CD26
    • Kameoka J., Tanaka T., Nojima Y., et al. Direct association of adenosine deaminase with a T cell activation antigen, CD26. Science 1993, 261:466-469.
    • (1993) Science , vol.261 , pp. 466-469
    • Kameoka, J.1    Tanaka, T.2    Nojima, Y.3
  • 42
    • 0025785602 scopus 로고
    • Purine nucleoside phosphorylase deficiency
    • Markert M.L. Purine nucleoside phosphorylase deficiency. Immunodefic Rev 1991, 3:45-81.
    • (1991) Immunodefic Rev , vol.3 , pp. 45-81
    • Markert, M.L.1
  • 43
    • 0029859625 scopus 로고    scopus 로고
    • Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient
    • Pannicke U., Tuchschmid P., Friedrich W., et al. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. Hum Genet 1996, 98:706-709.
    • (1996) Hum Genet , vol.98 , pp. 706-709
    • Pannicke, U.1    Tuchschmid, P.2    Friedrich, W.3
  • 44
    • 58149144707 scopus 로고    scopus 로고
    • Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
    • Lagresle-Peyrou C., Six E.M., Picard C., et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 2009, 41:106-111.
    • (2009) Nat Genet , vol.41 , pp. 106-111
    • Lagresle-Peyrou, C.1    Six, E.M.2    Picard, C.3
  • 45
    • 58149142930 scopus 로고    scopus 로고
    • Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
    • Pannicke U., Honig M., Hess I., et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 2009, 41:101-105.
    • (2009) Nat Genet , vol.41 , pp. 101-105
    • Pannicke, U.1    Honig, M.2    Hess, I.3
  • 46
    • 84904876386 scopus 로고    scopus 로고
    • Transplantation outcomes for severe combined immunodeficiency, 2000-2009
    • Pai S.-Y., Logan B.R., Griffith L.M., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014, 371:434-446.
    • (2014) N Engl J Med , vol.371 , pp. 434-446
    • Pai, S.-Y.1    Logan, B.R.2    Griffith, L.M.3
  • 47
    • 0028087777 scopus 로고
    • Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
    • DiSanto J.P., Rieux-Laucat F., Dautry-Varsat A., et al. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci U S A 1994, 91:9466-9470.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 9466-9470
    • DiSanto, J.P.1    Rieux-Laucat, F.2    Dautry-Varsat, A.3
  • 48
    • 0028919560 scopus 로고
    • Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency
    • Schmalstieg F.C., Leonard W.J., Noguchi M., et al. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest 1995, 95:1169-1173.
    • (1995) J Clin Invest , vol.95 , pp. 1169-1173
    • Schmalstieg, F.C.1    Leonard, W.J.2    Noguchi, M.3
  • 49
    • 24744460541 scopus 로고    scopus 로고
    • Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency
    • Wada T., Toma T., Okamoto H., et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 2005, 106:2099-2101.
    • (2005) Blood , vol.106 , pp. 2099-2101
    • Wada, T.1    Toma, T.2    Okamoto, H.3
  • 50
    • 0025779736 scopus 로고
    • Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
    • de Saint-Basile G., Le Deist F., de Villartay J.P., et al. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). J Clin Invest 1991, 87:1352-1359.
    • (1991) J Clin Invest , vol.87 , pp. 1352-1359
    • de Saint-Basile, G.1    Le Deist, F.2    de Villartay, J.P.3
  • 51
    • 34547134958 scopus 로고    scopus 로고
    • Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency
    • Palmer K., Green T.D., Roberts J.L., et al. Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. J Allergy Clin Immunol 2007, 120:423-428.
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 423-428
    • Palmer, K.1    Green, T.D.2    Roberts, J.L.3
  • 52
    • 0000263266 scopus 로고
    • Familial reticuloendotheliosis with eosinophilia
    • Omenn G.S. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965, 273:427-432.
    • (1965) N Engl J Med , vol.273 , pp. 427-432
    • Omenn, G.S.1
  • 53
    • 57149136599 scopus 로고    scopus 로고
    • Omenn syndrome: inflammation in leaky severe combined immunodeficiency
    • Villa A., Notarangelo L.D., Roifman C.M. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol 2008, 122:1082-1086.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1082-1086
    • Villa, A.1    Notarangelo, L.D.2    Roifman, C.M.3
  • 54
    • 0032577548 scopus 로고    scopus 로고
    • Partial V(D)J recombination activity leads to Omenn syndrome
    • Villa A., Santagata S., Bozzi F., et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998, 93:885-896.
    • (1998) Cell , vol.93 , pp. 885-896
    • Villa, A.1    Santagata, S.2    Bozzi, F.3
  • 55
    • 59449106399 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency
    • Gruber T.A., Shah A.J., Hernandez M., et al. Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. Pediatr Transplant 2009, 13:244-250.
    • (2009) Pediatr Transplant , vol.13 , pp. 244-250
    • Gruber, T.A.1    Shah, A.J.2    Hernandez, M.3
  • 56
    • 57149133526 scopus 로고    scopus 로고
    • Omenn syndrome is associated with mutations in DNA ligase IV
    • Grunebaum E., Bates A., Roifman C.M. Omenn syndrome is associated with mutations in DNA ligase IV. J Allergy Clin Immunol 2008, 122:1219-1220.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1219-1220
    • Grunebaum, E.1    Bates, A.2    Roifman, C.M.3
  • 57
    • 0020328222 scopus 로고
    • Identification by HLA typing of intrauterine-derived maternal T cells in four patients with severe combined immunodeficiency
    • Pollack M.S., Kirkpatrick D., Kapoor N., et al. Identification by HLA typing of intrauterine-derived maternal T cells in four patients with severe combined immunodeficiency. N Engl J Med 1982, 307:662-666.
    • (1982) N Engl J Med , vol.307 , pp. 662-666
    • Pollack, M.S.1    Kirkpatrick, D.2    Kapoor, N.3
  • 58
    • 0035885937 scopus 로고    scopus 로고
    • Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients
    • Müller S.M., Ege M., Pottharst A., et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 2001, 98:1847-1851.
    • (2001) Blood , vol.98 , pp. 1847-1851
    • Müller, S.M.1    Ege, M.2    Pottharst, A.3
  • 59
    • 0028283601 scopus 로고
    • Differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT patients with severe combined immunodeficiency
    • Appleton A., Curtis A., Wilkes J., et al. Differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT patients with severe combined immunodeficiency. Bone Marrow Transplant 1994, 14:157-159.
    • (1994) Bone Marrow Transplant , vol.14 , pp. 157-159
    • Appleton, A.1    Curtis, A.2    Wilkes, J.3
  • 60
    • 84857757608 scopus 로고    scopus 로고
    • The long quest for neonatal screening for severe combined immunodeficiency
    • Buckley R.H. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol 2012, 129:597-604.
    • (2012) J Allergy Clin Immunol , vol.129 , pp. 597-604
    • Buckley, R.H.1
  • 61
    • 84897458695 scopus 로고    scopus 로고
    • Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts
    • Shearer W.T., Fleisher T.A., Buckley R.H., et al. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol 2014, 133:961-966.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 961-966
    • Shearer, W.T.1    Fleisher, T.A.2    Buckley, R.H.3
  • 62
    • 74749107158 scopus 로고    scopus 로고
    • Radiosensitive severe combined immunodeficiency disease
    • Dvorak C.C., Cowan M.J. Radiosensitive severe combined immunodeficiency disease. Immunol Allergy Clin North Am 2010, 30:125-142.
    • (2010) Immunol Allergy Clin North Am , vol.30 , pp. 125-142
    • Dvorak, C.C.1    Cowan, M.J.2
  • 63
    • 84876932180 scopus 로고    scopus 로고
    • Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects
    • Horn B., Cowan M.J. Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects. J Allergy Clin Immunol 2013, 131:1306-1311.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1306-1311
    • Horn, B.1    Cowan, M.J.2
  • 64
    • 84892636089 scopus 로고    scopus 로고
    • SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID
    • Schuetz C., Neven B., Dvorak C.C., et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 2013, 123:281-289.
    • (2013) Blood , vol.123 , pp. 281-289
    • Schuetz, C.1    Neven, B.2    Dvorak, C.C.3
  • 65
    • 0011773718 scopus 로고
    • Four-year study of a boy with combined immune deficiency maintained in strict reverse isolation from birth. IV. Immunologic studies
    • South M.A., Montgomery J.R., Richie E., et al. Four-year study of a boy with combined immune deficiency maintained in strict reverse isolation from birth. IV. Immunologic studies. Pediatr Res 1977, 11:71-78.
    • (1977) Pediatr Res , vol.11 , pp. 71-78
    • South, M.A.1    Montgomery, J.R.2    Richie, E.3
  • 66
    • 0021833639 scopus 로고
    • Epstein-Barr virus-associated B-cell proliferations of diverse clonal origins after bone marrow transplantation in a 12-year-old patient with severe combined immunodeficiency
    • Shearer W.T., Ritz J., Finegold M.J., et al. Epstein-Barr virus-associated B-cell proliferations of diverse clonal origins after bone marrow transplantation in a 12-year-old patient with severe combined immunodeficiency. N Engl J Med 1985, 312:1151-1159.
    • (1985) N Engl J Med , vol.312 , pp. 1151-1159
    • Shearer, W.T.1    Ritz, J.2    Finegold, M.J.3
  • 67
    • 0027723157 scopus 로고
    • Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA)
    • Hershfield M. Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). Immunodeficiency 1993, 4:93-97.
    • (1993) Immunodeficiency , vol.4 , pp. 93-97
    • Hershfield, M.1
  • 68
    • 77953018306 scopus 로고    scopus 로고
    • Bone marrow transplantation and alternatives for adenosine deaminase deficiency
    • Gaspar H. Bone marrow transplantation and alternatives for adenosine deaminase deficiency. Immunol Allergy Clin North Am 2010, 30:221-236.
    • (2010) Immunol Allergy Clin North Am , vol.30 , pp. 221-236
    • Gaspar, H.1
  • 69
    • 0028907019 scopus 로고
    • PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency
    • Hershfield M. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat 1995, 5:107-112.
    • (1995) Hum Mutat , vol.5 , pp. 107-112
    • Hershfield, M.1
  • 70
    • 27944482481 scopus 로고    scopus 로고
    • Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients
    • Malacarne F., Benicchi T., Notarangelo L.D., et al. Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. Eur J Immunol 2005, 35:3376-3386.
    • (2005) Eur J Immunol , vol.35 , pp. 3376-3386
    • Malacarne, F.1    Benicchi, T.2    Notarangelo, L.D.3
  • 71
    • 84943814197 scopus 로고    scopus 로고
    • Hematopoietic Stem Cell Transplant for Immune Deficiency and Immune Dysregulation Disorders
    • In press
    • Hagin D., Burroughs L., Torgerson T.R. Hematopoietic Stem Cell Transplant for Immune Deficiency and Immune Dysregulation Disorders. Immunol Allergy Clin North Am 2015, in press.
    • (2015) Immunol Allergy Clin North Am
    • Hagin, D.1    Burroughs, L.2    Torgerson, T.R.3
  • 72
    • 0014433553 scopus 로고
    • Immunological reconstitution of sex-linked lymphopenic immunological deficiency
    • Gatti R.A., Meuwissen H.J., Allen H.D., et al. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 1968, 292:1366-1369.
    • (1968) Lancet , vol.292 , pp. 1366-1369
    • Gatti, R.A.1    Meuwissen, H.J.2    Allen, H.D.3
  • 73
    • 0014690972 scopus 로고
    • Treatment of lymphopenic hypogammaglobulinemia and bone-marrow aplasia by transplantation of allogeneic marrow
    • Meuwissen H.J., Gatti R.A., Terasaki P.I., et al. Treatment of lymphopenic hypogammaglobulinemia and bone-marrow aplasia by transplantation of allogeneic marrow. N Engl J Med 1969, 281:691-697.
    • (1969) N Engl J Med , vol.281 , pp. 691-697
    • Meuwissen, H.J.1    Gatti, R.A.2    Terasaki, P.I.3
  • 74
    • 0015560189 scopus 로고
    • Successful treatment of an infant with severe combined immunodeficiency by transplantation of bone marrow cells from an uncle
    • Vossen J.M., de Koning J., van Bekkum D.W., et al. Successful treatment of an infant with severe combined immunodeficiency by transplantation of bone marrow cells from an uncle. Clin Exp Immunol 1973, 13:9-20.
    • (1973) Clin Exp Immunol , vol.13 , pp. 9-20
    • Vossen, J.M.1    de Koning, J.2    van Bekkum, D.W.3
  • 75
    • 0017697285 scopus 로고
    • Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor
    • O'Reilly R.J., Dupont B., Pahwa S., et al. Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor. N Engl J Med 1977, 297:1311-1318.
    • (1977) N Engl J Med , vol.297 , pp. 1311-1318
    • O'Reilly, R.J.1    Dupont, B.2    Pahwa, S.3
  • 76
    • 0019390679 scopus 로고
    • Transplantation for acute leukaemia with HLA-A and B nonidentical parental marrow cells fractionated with soybean agglutinin and sheep red blood cells
    • Reisner Y., Kirkpatrick D., Dupont B., et al. Transplantation for acute leukaemia with HLA-A and B nonidentical parental marrow cells fractionated with soybean agglutinin and sheep red blood cells. Lancet 1981, 318:327-331.
    • (1981) Lancet , vol.318 , pp. 327-331
    • Reisner, Y.1    Kirkpatrick, D.2    Dupont, B.3
  • 77
    • 0020691120 scopus 로고
    • Transplantation for severe combined immunodeficiency with HLA-A, B, D, DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells
    • Reisner Y., Kapoor N., Kirkpatrick D., et al. Transplantation for severe combined immunodeficiency with HLA-A, B, D, DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells. Blood 1983, 61:341-348.
    • (1983) Blood , vol.61 , pp. 341-348
    • Reisner, Y.1    Kapoor, N.2    Kirkpatrick, D.3
  • 78
    • 84895062421 scopus 로고    scopus 로고
    • Survey on retransplantation criteria for patients with severe combined immunodeficiency
    • Haddad E., Allakhverdi Z., Griffith L.M., et al. Survey on retransplantation criteria for patients with severe combined immunodeficiency. J Allergy Clin Immunol 2014, 133:597-599.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 597-599
    • Haddad, E.1    Allakhverdi, Z.2    Griffith, L.M.3
  • 79
    • 84875699025 scopus 로고    scopus 로고
    • B-cell reconstitution for SCID: Should a conditioning regimen be used in SCID treatment?
    • Haddad E., Leroy S., Buckley R.H. B-cell reconstitution for SCID: Should a conditioning regimen be used in SCID treatment?. J Allergy Clin Immunol 2013, 131(4):994-1000.
    • (2013) J Allergy Clin Immunol , vol.131 , Issue.4 , pp. 994-1000
    • Haddad, E.1    Leroy, S.2    Buckley, R.H.3
  • 80
    • 84875740332 scopus 로고    scopus 로고
    • Post-Transplantation B Cell Function in Different Molecular Types of SCID
    • Buckley R.H., Win C.M., Moser B.K., et al. Post-Transplantation B Cell Function in Different Molecular Types of SCID. J Clin Immunol 2013, 33(1):96-110.
    • (2013) J Clin Immunol , vol.33 , Issue.1 , pp. 96-110
    • Buckley, R.H.1    Win, C.M.2    Moser, B.K.3
  • 81
    • 78651088006 scopus 로고    scopus 로고
    • Bone marrow transplantation using HLA-matched unrelated donors for patients suffering from severe combined immunodeficiency
    • Grunebaum E., Roifman C.M. Bone marrow transplantation using HLA-matched unrelated donors for patients suffering from severe combined immunodeficiency. Hematol Oncol Clin North Am 2011, 25:63-73.
    • (2011) Hematol Oncol Clin North Am , vol.25 , pp. 63-73
    • Grunebaum, E.1    Roifman, C.M.2
  • 82
    • 84908123060 scopus 로고    scopus 로고
    • Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency
    • Dvorak C.C., Hassan A., Slatter M.A., et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol 2014, 134:935-943.e15.
    • (2014) J Allergy Clin Immunol , vol.134 , pp. 935-943.e15
    • Dvorak, C.C.1    Hassan, A.2    Slatter, M.A.3
  • 83
    • 84901804522 scopus 로고    scopus 로고
    • Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency
    • Hassan A., Lee P., Maggina P., et al. Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency. J Allergy Clin Immunol 2014, 133:1660-1666.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 1660-1666
    • Hassan, A.1    Lee, P.2    Maggina, P.3
  • 84
    • 33846878015 scopus 로고    scopus 로고
    • The effect of natural killer cell killer Ig-like receptor alloreactivity on the outcome of bone marrow stem cell transplantation for severe combined immunodeficiency (SCID)
    • Keller M.D., Chen D.F., Condron S.A., et al. The effect of natural killer cell killer Ig-like receptor alloreactivity on the outcome of bone marrow stem cell transplantation for severe combined immunodeficiency (SCID). J Clin Immunol 2007, 27:109-116.
    • (2007) J Clin Immunol , vol.27 , pp. 109-116
    • Keller, M.D.1    Chen, D.F.2    Condron, S.A.3
  • 85
    • 84919640076 scopus 로고    scopus 로고
    • Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency
    • Kamili Q.U.A., Seeborg F.O., Saxena K., et al. Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency. J Allergy Clin Immunol 2014, 134:1451-1453.e1.
    • (2014) J Allergy Clin Immunol , vol.134 , pp. 1451-1453.e1
    • Kamili, Q.U.A.1    Seeborg, F.O.2    Saxena, K.3
  • 86
    • 2942648153 scopus 로고    scopus 로고
    • Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency
    • Laffort C., Deist F.L., Favre M., et al. Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency. Lancet 2004, 363:2051-2054.
    • (2004) Lancet , vol.363 , pp. 2051-2054
    • Laffort, C.1    Deist, F.L.2    Favre, M.3
  • 87
    • 84863752197 scopus 로고    scopus 로고
    • Neuropsychological performance in survivors of breast cancer more than 20 years after adjuvant chemotherapy
    • Koppelmans V., Breteler M.M.B., Boogerd W., et al. Neuropsychological performance in survivors of breast cancer more than 20 years after adjuvant chemotherapy. J Clin Oncol 2012, 30(10):1080-1086.
    • (2012) J Clin Oncol , vol.30 , Issue.10 , pp. 1080-1086
    • Koppelmans, V.1    Breteler, M.M.B.2    Boogerd, W.3
  • 88
    • 55749109027 scopus 로고    scopus 로고
    • Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies
    • Titman P., Pink E., Skucek E., et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood 2008, 112:3907-3913.
    • (2008) Blood , vol.112 , pp. 3907-3913
    • Titman, P.1    Pink, E.2    Skucek, E.3
  • 89
    • 0034968336 scopus 로고    scopus 로고
    • Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
    • Rogers M.H., Lwin R., Fairbanks L., et al. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr 2001, 139:44-50.
    • (2001) J Pediatr , vol.139 , pp. 44-50
    • Rogers, M.H.1    Lwin, R.2    Fairbanks, L.3
  • 90
    • 73949133111 scopus 로고    scopus 로고
    • Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis
    • e1
    • Railey M.D., Lokhnygina Y., Buckley R.H. Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr 2009, 155:834-840. e1.
    • (2009) J Pediatr , vol.155 , pp. 834-840
    • Railey, M.D.1    Lokhnygina, Y.2    Buckley, R.H.3
  • 91
    • 79952698207 scopus 로고    scopus 로고
    • Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long-term outcomes
    • Buckley R. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long-term outcomes. Immunol Res 2011, 49:25-43.
    • (2011) Immunol Res , vol.49 , pp. 25-43
    • Buckley, R.1
  • 92
    • 0036464666 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
    • Myers L.A., Patel D.D., Puck J.M., et al. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 2002, 99:872-878.
    • (2002) Blood , vol.99 , pp. 872-878
    • Myers, L.A.1    Patel, D.D.2    Puck, J.M.3
  • 93
    • 0031975088 scopus 로고    scopus 로고
    • Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency
    • Onodera M., Ariga T., Kawamura N., et al. Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. Blood 1998, 91:30-36.
    • (1998) Blood , vol.91 , pp. 30-36
    • Onodera, M.1    Ariga, T.2    Kawamura, N.3
  • 94
    • 0028864561 scopus 로고
    • Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency
    • Kohn D.B., Weinberg K.I., Nolta J.A., et al. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med 1995, 1:1017-1023.
    • (1995) Nat Med , vol.1 , pp. 1017-1023
    • Kohn, D.B.1    Weinberg, K.I.2    Nolta, J.A.3
  • 95
    • 0028789792 scopus 로고
    • Gene therapy in peripheral blood lymphocytes and bone marrow for ADA negative immunodeficient patients
    • Bordignon C., Notarangelo L.D., Nobili N., et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA negative immunodeficient patients. Science 1995, 270:470.
    • (1995) Science , vol.270 , pp. 470
    • Bordignon, C.1    Notarangelo, L.D.2    Nobili, N.3
  • 96
    • 9244243165 scopus 로고    scopus 로고
    • Bone marrow gene transfer in three patients with adenosine deaminase deficiency
    • Hoogerbrugge P.M., van Beusechem V.W., Fischer A., et al. Bone marrow gene transfer in three patients with adenosine deaminase deficiency. Gene Ther 1996, 3:179-183.
    • (1996) Gene Ther , vol.3 , pp. 179-183
    • Hoogerbrugge, P.M.1    van Beusechem, V.W.2    Fischer, A.3
  • 97
    • 0142084745 scopus 로고    scopus 로고
    • LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
    • Hacein-Bey-Abina S., Von Kalle C., Schmidt M., et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003, 302:415-419.
    • (2003) Science , vol.302 , pp. 415-419
    • Hacein-Bey-Abina, S.1    Von Kalle, C.2    Schmidt, M.3
  • 98
    • 51349090473 scopus 로고    scopus 로고
    • Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
    • Hacein-Bey-Abina S., Garrigue A., Wang G.P., et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 2008, 118:3132-3142.
    • (2008) J Clin Invest , vol.118 , pp. 3132-3142
    • Hacein-Bey-Abina, S.1    Garrigue, A.2    Wang, G.P.3
  • 99
    • 51349158298 scopus 로고    scopus 로고
    • Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
    • Howe S.J., Mansour M.R., Schwarzwaelder K., et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest 2008, 118:3143-3150.
    • (2008) J Clin Invest , vol.118 , pp. 3143-3150
    • Howe, S.J.1    Mansour, M.R.2    Schwarzwaelder, K.3
  • 100
    • 77952976693 scopus 로고    scopus 로고
    • Gene therapy for adenosine deaminase deficiency
    • Cappelli B., Aiuti A. Gene therapy for adenosine deaminase deficiency. Immunol Allergy Clin North Am 2010, 30:249-260.
    • (2010) Immunol Allergy Clin North Am , vol.30 , pp. 249-260
    • Cappelli, B.1    Aiuti, A.2
  • 101
    • 80052050274 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction
    • 97ra80
    • Gaspar H.B., Cooray S., Gilmour K.C., et al. Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med 2011, 3:97ra80.
    • (2011) Sci Transl Med , vol.3
    • Gaspar, H.B.1    Cooray, S.2    Gilmour, K.C.3
  • 102
    • 84868589740 scopus 로고    scopus 로고
    • Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans
    • Candotti F., Shaw K.L., Muul L., et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 2012, 120(18):3635-3646.
    • (2012) Blood , vol.120 , Issue.18 , pp. 3635-3646
    • Candotti, F.1    Shaw, K.L.2    Muul, L.3
  • 103
    • 21144439712 scopus 로고    scopus 로고
    • Failure of SCID-X1 gene therapy in older patients
    • Thrasher A.J., Hacein-Bey-Abina S., Gaspar H.B., et al. Failure of SCID-X1 gene therapy in older patients. Blood 2005, 105:4255-4257.
    • (2005) Blood , vol.105 , pp. 4255-4257
    • Thrasher, A.J.1    Hacein-Bey-Abina, S.2    Gaspar, H.B.3
  • 104
    • 84907880404 scopus 로고    scopus 로고
    • A modified γ-retrovirus vector for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina S., Pai S.-Y., Gaspar H.B., et al. A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med 2014, 371:1407-1417.
    • (2014) N Engl J Med , vol.371 , pp. 1407-1417
    • Hacein-Bey-Abina, S.1    Pai, S.-Y.2    Gaspar, H.B.3
  • 105
    • 0029996147 scopus 로고    scopus 로고
    • In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector
    • Naldini L., Blomer U., Gallay P., et al. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 1996, 272:263.
    • (1996) Science , vol.272 , pp. 263
    • Naldini, L.1    Blomer, U.2    Gallay, P.3
  • 106
    • 0031743608 scopus 로고    scopus 로고
    • Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery
    • Zufferey R., Dull T., Mandel R.J., et al. Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery. J Virol 1998, 72:9873-9880.
    • (1998) J Virol , vol.72 , pp. 9873-9880
    • Zufferey, R.1    Dull, T.2    Mandel, R.J.3
  • 107
    • 0000025287 scopus 로고
    • Discussion of Cooper MD, Peterson RDA, Good RA. A new concept of cellular basis of immunity
    • DiGeorge A.M. Discussion of Cooper MD, Peterson RDA, Good RA. A new concept of cellular basis of immunity. J Pediatr 1965, 67:907.
    • (1965) J Pediatr , vol.67 , pp. 907
    • DiGeorge, A.M.1
  • 108
  • 109
    • 0019501676 scopus 로고
    • Clinical and immunologic spectrum of the DiGeorge syndrome
    • Barrett D.J., Ammann A.J., Wara D.W., et al. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol 1981, 6:1-6.
    • (1981) J Clin Lab Immunol , vol.6 , pp. 1-6
    • Barrett, D.J.1    Ammann, A.J.2    Wara, D.W.3
  • 110
    • 0025913982 scopus 로고
    • The DiGeorge anomaly
    • Hong R. The DiGeorge anomaly. Immunodefic Rev 1991, 3:1-14.
    • (1991) Immunodefic Rev , vol.3 , pp. 1-14
    • Hong, R.1
  • 111
    • 0028253250 scopus 로고
    • Maldescent of the thymus
    • [author reply: 9-80]
    • DiGeorge A.M. Maldescent of the thymus. Pediatr Pathol 1994, 14:178. [author reply: 9-80].
    • (1994) Pediatr Pathol , vol.14 , pp. 178
    • DiGeorge, A.M.1
  • 112
    • 70249098024 scopus 로고    scopus 로고
    • DiGeorge anomaly in the absence of chromosome 22q11.2 deletion
    • Rope A.F., Cragun D.L., Saal H.M., et al. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr 2009, 155:560-565.e1.
    • (2009) J Pediatr , vol.155 , pp. 560-565.e1
    • Rope, A.F.1    Cragun, D.L.2    Saal, H.M.3
  • 113
    • 84943376487 scopus 로고    scopus 로고
    • Thymus transplantation
    • Academic Press, Waltham (MA), K. Sullivan, E. Stiehm (Eds.)
    • Markert M. Thymus transplantation. Stiehm's immune deficiencies 2014, 1059-1067. Academic Press, Waltham (MA). 1st edition. K. Sullivan, E. Stiehm (Eds.).
    • (2014) Stiehm's immune deficiencies , pp. 1059-1067
    • Markert, M.1
  • 114
    • 84943424916 scopus 로고    scopus 로고
    • Defects in thymic development: DiGeorge/CHARGE/chromosome 22q11.2 deletion
    • Academic Press, Waltham (MA), K. Sullivan, E. Stiehm (Eds.)
    • Markert M. Defects in thymic development: DiGeorge/CHARGE/chromosome 22q11.2 deletion. Stiehm's immune deficiencies 2014, 221-242. Academic Press, Waltham (MA). 1st edition. K. Sullivan, E. Stiehm (Eds.).
    • (2014) Stiehm's immune deficiencies , pp. 221-242
    • Markert, M.1
  • 115
    • 84901471508 scopus 로고    scopus 로고
    • Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome
    • Lingman Framme J., Borte S., von Döbeln U., et al. Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome. J Clin Immunol 2014, 34:514-519.
    • (2014) J Clin Immunol , vol.34 , pp. 514-519
    • Lingman Framme, J.1    Borte, S.2    von Döbeln, U.3
  • 116
    • 0013977818 scopus 로고
    • 'Nude', a new hairless gene with pleiotropic effects in mouse
    • Flanagan S.P. 'Nude', a new hairless gene with pleiotropic effects in mouse. Genet Res 1966, 8:295-309.
    • (1966) Genet Res , vol.8 , pp. 295-309
    • Flanagan, S.P.1
  • 117
    • 0014431603 scopus 로고
    • Absence of thymus in a mouse mutant
    • Pantelouris E.M. Absence of thymus in a mouse mutant. Nature 1968, 217:370-371.
    • (1968) Nature , vol.217 , pp. 370-371
    • Pantelouris, E.M.1
  • 118
    • 0028000121 scopus 로고
    • New member of the winged-helix protein family disrupted in mouse and rat nude mutations
    • Nehls M., Pfeifer D., Schorpp M., et al. New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 1994, 372:103-107.
    • (1994) Nature , vol.372 , pp. 103-107
    • Nehls, M.1    Pfeifer, D.2    Schorpp, M.3
  • 119
    • 0033535507 scopus 로고    scopus 로고
    • Exposing the human nude phenotype
    • Frank J., Pignata C., Panteleyev A.A., et al. Exposing the human nude phenotype. Nature 1999, 398:473-474.
    • (1999) Nature , vol.398 , pp. 473-474
    • Frank, J.1    Pignata, C.2    Panteleyev, A.A.3
  • 120
    • 0029959773 scopus 로고    scopus 로고
    • Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs
    • Pignata C., Fiore M., Guzzetta V., et al. Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 1996, 65:167-170.
    • (1996) Am J Med Genet , vol.65 , pp. 167-170
    • Pignata, C.1    Fiore, M.2    Guzzetta, V.3
  • 121
    • 0031918329 scopus 로고    scopus 로고
    • Complete DiGeorge syndrome: persistence of profound immunodeficiency
    • Markert M.L., Hummell D.S., Rosenblatt H.M., et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998, 132:15-21.
    • (1998) J Pediatr , vol.132 , pp. 15-21
    • Markert, M.L.1    Hummell, D.S.2    Rosenblatt, H.M.3
  • 122
    • 78751535405 scopus 로고    scopus 로고
    • First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
    • Markert M.L., Marques J.G., Neven B., et al. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. Blood 2011, 117:688-696.
    • (2011) Blood , vol.117 , pp. 688-696
    • Markert, M.L.1    Marques, J.G.2    Neven, B.3
  • 123
    • 1942538141 scopus 로고    scopus 로고
    • Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
    • Markert M.L., Alexieff M.J., Li J., et al. Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome. Blood 2004, 104:2574-2581.
    • (2004) Blood , vol.104 , pp. 2574-2581
    • Markert, M.L.1    Alexieff, M.J.2    Li, J.3
  • 124
    • 11144356685 scopus 로고    scopus 로고
    • Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases
    • Markert M.L., Alexieff M.J., Li J., et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol 2004, 113:734-741.
    • (2004) J Allergy Clin Immunol , vol.113 , pp. 734-741
    • Markert, M.L.1    Alexieff, M.J.2    Li, J.3
  • 125
    • 34248381768 scopus 로고    scopus 로고
    • Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants
    • Markert M.L., Devlin B.H., Alexieff M.J., et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007, 109:4539-4547.
    • (2007) Blood , vol.109 , pp. 4539-4547
    • Markert, M.L.1    Devlin, B.H.2    Alexieff, M.J.3
  • 126
    • 84878791766 scopus 로고    scopus 로고
    • Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3-T cells in complete DiGeorge anomaly
    • Chinn I.K., Milner J.D., Scheinberg P., et al. Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3-T cells in complete DiGeorge anomaly. Clin Exp Immunol 2013, 173:140-149.
    • (2013) Clin Exp Immunol , vol.173 , pp. 140-149
    • Chinn, I.K.1    Milner, J.D.2    Scheinberg, P.3
  • 127
    • 48349132851 scopus 로고    scopus 로고
    • Factors affecting success of thymus transplantation for complete DiGeorge anomaly
    • Markert M.L., Devlin B.H., Chinn I.K., et al. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant 2008, 8:1729-1736.
    • (2008) Am J Transplant , vol.8 , pp. 1729-1736
    • Markert, M.L.1    Devlin, B.H.2    Chinn, I.K.3
  • 128
    • 39149115649 scopus 로고    scopus 로고
    • Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly
    • Chinn I.K., Devlin B.H., Li Y.-J., et al. Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly. Clin Immunol 2008, 126:277-281.
    • (2008) Clin Immunol , vol.126 , pp. 277-281
    • Chinn, I.K.1    Devlin, B.H.2    Li, Y.-J.3
  • 129
    • 77957790302 scopus 로고    scopus 로고
    • Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation
    • Chinn I.K., Olson J.A., Skinner M.A., et al. Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation. J Allergy Clin Immunol 2010, 126:814-820.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 814-820
    • Chinn, I.K.1    Olson, J.A.2    Skinner, M.A.3
  • 130
    • 84943775491 scopus 로고    scopus 로고
    • Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome
    • Zheng P., Norosk L.M., Hanson I.C., et al. Molecular mechanisms of functional natural killer deficiency in patients with partial DiGeorge syndrome. J Allergy Clin Immunol 2015, 135(5):1293-1302.
    • (2015) J Allergy Clin Immunol , vol.135 , Issue.5 , pp. 1293-1302
    • Zheng, P.1    Norosk, L.M.2    Hanson, I.C.3
  • 131
    • 46949098739 scopus 로고    scopus 로고
    • Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up
    • Daguindau N., Decot V., Nzietchueng R., et al. Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. Clin Immunol 2008, 128:164-171.
    • (2008) Clin Immunol , vol.128 , pp. 164-171
    • Daguindau, N.1    Decot, V.2    Nzietchueng, R.3
  • 132
    • 34948856997 scopus 로고    scopus 로고
    • Long-term results of bone marrow transplantation in complete DiGeorge syndrome
    • Land M.H., Garcia-Lloret M.I., Borzy M.S., et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol 2007, 120:908-915.
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 908-915
    • Land, M.H.1    Garcia-Lloret, M.I.2    Borzy, M.S.3
  • 133
    • 0036277691 scopus 로고    scopus 로고
    • T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome
    • Bensoussan D., Le Deist F., Latger-Cannard V., et al. T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. Br J Haematol 2002, 117:899-906.
    • (2002) Br J Haematol , vol.117 , pp. 899-906
    • Bensoussan, D.1    Le Deist, F.2    Latger-Cannard, V.3
  • 134
    • 77954425753 scopus 로고    scopus 로고
    • Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism
    • Inoue H., Takada H., Kusuda T., et al. Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur J Pediatr 2010, 169:839-844.
    • (2010) Eur J Pediatr , vol.169 , pp. 839-844
    • Inoue, H.1    Takada, H.2    Kusuda, T.3
  • 135
    • 0032570147 scopus 로고    scopus 로고
    • Immune constitution of complete DiGeorge anomaly by transplantation of unmobilised blood mononuclear cells
    • Bowers D.C., Lederman H.M., Sicherer S.H., et al. Immune constitution of complete DiGeorge anomaly by transplantation of unmobilised blood mononuclear cells. Lancet 1998, 352:1983-1984.
    • (1998) Lancet , vol.352 , pp. 1983-1984
    • Bowers, D.C.1    Lederman, H.M.2    Sicherer, S.H.3
  • 136
    • 77957714384 scopus 로고    scopus 로고
    • Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly
    • Janda A., Sedlacek P., Hönig M., et al. Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood 2010, 116:2229-2236.
    • (2010) Blood , vol.116 , pp. 2229-2236
    • Janda, A.1    Sedlacek, P.2    Hönig, M.3
  • 137
    • 35148815335 scopus 로고    scopus 로고
    • Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency
    • Mazzolari E., Forino C., Guerci S., et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol 2007, 120:892-899.
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 892-899
    • Mazzolari, E.1    Forino, C.2    Guerci, S.3
  • 138
    • 41449101171 scopus 로고    scopus 로고
    • Treatment of infants with complete DiGeorge anomaly
    • Markert M.L. Treatment of infants with complete DiGeorge anomaly. J Allergy Clin Immunol 2008, 121:1063.
    • (2008) J Allergy Clin Immunol , vol.121 , pp. 1063
    • Markert, M.L.1
  • 139
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005, 115:391-398.
    • (2005) J Allergy Clin Immunol , vol.115 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 140
    • 84923181529 scopus 로고    scopus 로고
    • Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency
    • Kubiak C., Jyonouchi S., Kuo C., et al. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. J Allergy Clin Immunol 2014, 2:697-702.
    • (2014) J Allergy Clin Immunol , vol.2 , pp. 697-702
    • Kubiak, C.1    Jyonouchi, S.2    Kuo, C.3
  • 141
    • 84894660342 scopus 로고    scopus 로고
    • An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia
    • Modell V., Knaus M., Modell F. An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia. Immunol Res 2014, 60:145-152.
    • (2014) Immunol Res , vol.60 , pp. 145-152
    • Modell, V.1    Knaus, M.2    Modell, F.3
  • 142
    • 71549150905 scopus 로고    scopus 로고
    • Statewide newborn screening for severe T-cell lymphopenia
    • Routes J.M., Grossman W.J., Verbsky J., et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009, 302:2465-2470.
    • (2009) JAMA , vol.302 , pp. 2465-2470
    • Routes, J.M.1    Grossman, W.J.2    Verbsky, J.3
  • 143
    • 84906543118 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
    • Kwan A., Abraham R.S., Currier R., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312:729-738.
    • (2014) JAMA , vol.312 , pp. 729-738
    • Kwan, A.1    Abraham, R.S.2    Currier, R.3
  • 144
    • 84866739076 scopus 로고    scopus 로고
    • Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency
    • Heimall J., Keller M., Saltzman R., et al. Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol 2012, 32:1141-1144.
    • (2012) J Clin Immunol , vol.32 , pp. 1141-1144
    • Heimall, J.1    Keller, M.2    Saltzman, R.3
  • 145
    • 84855297376 scopus 로고    scopus 로고
    • Newborn screening for primary immunodeficiencies: beyond SCID and XLA
    • Borte S., Wang N., Óskarsdóttir S., et al. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci 2011, 1246:118-130.
    • (2011) Ann N Y Acad Sci , vol.1246 , pp. 118-130
    • Borte, S.1    Wang, N.2    Óskarsdóttir, S.3
  • 146
    • 57049172523 scopus 로고    scopus 로고
    • Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
    • Turul T., Tezcan I., Artac H., et al. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr 2009, 168:87-93.
    • (2009) Eur J Pediatr , vol.168 , pp. 87-93
    • Turul, T.1    Tezcan, I.2    Artac, H.3
  • 148
    • 0033105718 scopus 로고    scopus 로고
    • Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome
    • Furukawa H., Murata S., Yabe T., et al. Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. J Clin Invest 1999, 103:755-758.
    • (1999) J Clin Invest , vol.103 , pp. 755-758
    • Furukawa, H.1    Murata, S.2    Yabe, T.3
  • 149
    • 0027446688 scopus 로고
    • Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome
    • Klein C., Lisowska-Grospierre B., LeDeist F., et al. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 1993, 123:921-928.
    • (1993) J Pediatr , vol.123 , pp. 921-928
    • Klein, C.1    Lisowska-Grospierre, B.2    LeDeist, F.3
  • 150
    • 0027490172 scopus 로고
    • Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
    • Steimle V., Otten L.A., Zufferey M., et al. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 1993, 75:135-146.
    • (1993) Cell , vol.75 , pp. 135-146
    • Steimle, V.1    Otten, L.A.2    Zufferey, M.3
  • 151
    • 0033083748 scopus 로고    scopus 로고
    • RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency
    • Nagarajan U.M., Louis-Plence P., DeSandro A., et al. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity 1999, 10:153-162.
    • (1999) Immunity , vol.10 , pp. 153-162
    • Nagarajan, U.M.1    Louis-Plence, P.2    DeSandro, A.3
  • 152
    • 81055126777 scopus 로고    scopus 로고
    • Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients
    • Ouederni M., Vincent Q.B., Frange P., et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 2011, 118:5108-5118.
    • (2011) Blood , vol.118 , pp. 5108-5118
    • Ouederni, M.1    Vincent, Q.B.2    Frange, P.3
  • 153
    • 0004419978 scopus 로고    scopus 로고
    • A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
    • Masternak K., Barras E., Zufferey M., et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet 1998, 20:273-277.
    • (1998) Nat Genet , vol.20 , pp. 273-277
    • Masternak, K.1    Barras, E.2    Zufferey, M.3
  • 154
    • 11944266638 scopus 로고
    • A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
    • Steimle V., Durand B., Barras E., et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Development 1995, 9:1021-1032.
    • (1995) Genes Development , vol.9 , pp. 1021-1032
    • Steimle, V.1    Durand, B.2    Barras, E.3
  • 155
    • 0031055891 scopus 로고    scopus 로고
    • RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency
    • Durand B., Sperisen P., Emery P., et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J 1997, 16:1045-1055.
    • (1997) EMBO J , vol.16 , pp. 1045-1055
    • Durand, B.1    Sperisen, P.2    Emery, P.3
  • 156
    • 71149115670 scopus 로고    scopus 로고
    • Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
    • Engelhardt K.R., McGhee S., Winkler S., et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009, 124:1289-1302.e4.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1289-1302.e4
    • Engelhardt, K.R.1    McGhee, S.2    Winkler, S.3
  • 157
    • 70949098060 scopus 로고    scopus 로고
    • Combined immunodeficiency associated with DOCK8 mutations
    • Zhang Q., Davis J.C., Lamborn I.T., et al. Combined immunodeficiency associated with DOCK8 mutations. New Engl J Med 2009, 361:2046-2055.
    • (2009) New Engl J Med , vol.361 , pp. 2046-2055
    • Zhang, Q.1    Davis, J.C.2    Lamborn, I.T.3
  • 158
    • 84869144892 scopus 로고    scopus 로고
    • Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
    • Hauck F., Randriamampita C., Martin E., et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol 2012, 130:1144-1152.e11.
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 1144-1152.e11
    • Hauck, F.1    Randriamampita, C.2    Martin, E.3
  • 159
    • 0032527136 scopus 로고    scopus 로고
    • Defective expression of p56lck in an infant with severe combined immunodeficiency
    • Goldman F.D., Ballas Z.K., Schutte B.C., et al. Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest 1998, 102:421-429.
    • (1998) J Clin Invest , vol.102 , pp. 421-429
    • Goldman, F.D.1    Ballas, Z.K.2    Schutte, B.C.3
  • 160
    • 77950629297 scopus 로고    scopus 로고
    • Immunodeficiency due to mutations in ORAI1 and STIM1
    • Feske S., Picard C., Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol 2010, 135:169-182.
    • (2010) Clin Immunol , vol.135 , pp. 169-182
    • Feske, S.1    Picard, C.2    Fischer, A.3
  • 161
    • 33646576875 scopus 로고    scopus 로고
    • A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
    • Feske S., Gwack Y., Prakriya M., et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 2006, 441:179-185.
    • (2006) Nature , vol.441 , pp. 179-185
    • Feske, S.1    Gwack, Y.2    Prakriya, M.3
  • 162
    • 65649088588 scopus 로고    scopus 로고
    • STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
    • Picard C., McCarl C.-A., Papolos A., et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. New Engl J Med 2009, 360:1971-1980.
    • (2009) New Engl J Med , vol.360 , pp. 1971-1980
    • Picard, C.1    McCarl, C.-A.2    Papolos, A.3
  • 163
    • 84873481021 scopus 로고    scopus 로고
    • Severe combined immunodeficiency resulting from mutations in MTHFD1
    • Keller M.D., Ganesh J., Heltzer M., et al. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics 2013, 131:e629-e634.
    • (2013) Pediatrics , vol.131 , pp. e629-e634
    • Keller, M.D.1    Ganesh, J.2    Heltzer, M.3
  • 164
    • 70350613227 scopus 로고    scopus 로고
    • Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
    • Borzutzky A., Crompton B., Bergmann A.K., et al. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol 2009, 133:287-294.
    • (2009) Clin Immunol , vol.133 , pp. 287-294
    • Borzutzky, A.1    Crompton, B.2    Bergmann, A.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.