메뉴 건너뛰기




Volumn 1, Issue , 2015, Pages

Severe combined immunodeficiencies and related disorders

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; CALCIUM ION; CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MAGNESIUM ION; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PROTEIN; PROTEIN DOCK2; PROTEIN DOCK8; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

EID: 85017237396     PISSN: None     EISSN: 2056676X     Source Type: Journal    
DOI: 10.1038/nrdp.2015.61     Document Type: Review
Times cited : (171)

References (162)
  • 1
    • 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. 22, 625-655 (2004).
    • (2004) Annu. Rev. Immunol. , vol.22 , pp. 625-655
    • Buckley, R.H.1
  • 4
    • 78651198851 scopus 로고
    • Essential lymphocytophthisis; New clinical aspect of infant pathology
    • Glanzmann, E. & Riniker, P. [Essential lymphocytophthisis; new clinical aspect of infant pathology]. Ann. Paediatr. 175, 1-32 (1950).
    • (1950) Ann. Paediatr. , vol.175 , pp. 1-32
    • Glanzmann, E.1    Riniker, P.2
  • 5
    • 84906543118 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
    • Kwan, A. et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312, 729-738 (2014).
    • (2014) JAMA , vol.312 , pp. 729-738
    • Kwan, A.1
  • 6
    • 0014433553 scopus 로고
    • Immunological reconstitution of sex-linked lymphopenic immunological deficiency
    • Gatti, R. A., Meuwissen, H. J., Allen, H. D., Hong, R. & Good, R. A. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet 2, 1366-1369 (1968).
    • (1968) Lancet , vol.2 , pp. 1366-1369
    • Gatti, R.A.1    Meuwissen, H.J.2    Allen, H.D.3    Hong, R.4    Good, R.A.5
  • 7
    • 0034724857 scopus 로고    scopus 로고
    • Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
    • Cavazzana-Calvo, M. et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288, 669-672 (2000).
    • (2000) Science , vol.288 , pp. 669-672
    • Cavazzana-Calvo, M.1
  • 8
    • 0030862399 scopus 로고    scopus 로고
    • Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
    • Buckley, R. H. et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 130, 378-387 (1997).
    • (1997) J. Pediatr. , vol.130 , pp. 378-387
    • Buckley, R.H.1
  • 9
    • 0027525387 scopus 로고
    • Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
    • Stephan, J. L. et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 123, 564-572 (1993).
    • (1993) J. Pediatr. , vol.123 , pp. 564-572
    • Stephan, J.L.1
  • 10
    • 84897136937 scopus 로고    scopus 로고
    • BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies
    • Marciano, B. E. et al. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J. Allergy Clin. Immunol. 133, 1134-1141 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.133 , pp. 1134-1141
    • Marciano, B.E.1
  • 11
    • 84897458695 scopus 로고    scopus 로고
    • Recommendations for live viral and bacterial vaccines in immunodeficiency patients and their close contacts
    • Shearer, W. T. Recommendations for live viral and bacterial vaccines in immunodeficiency patients and their close contacts. J. Allergy Clin. Immunol. 133, 961-966 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.133 , pp. 961-966
    • Shearer, W.T.1
  • 12
    • 0033580206 scopus 로고    scopus 로고
    • Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
    • Buckley, R. H. et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 340, 508-516 (1999).
    • (1999) N. Engl. J. Med. , vol.340 , pp. 508-516
    • Buckley, R.H.1
  • 13
    • 79953082197 scopus 로고    scopus 로고
    • Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening
    • Brown, L. et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood 117, 3243-3246 (2011).
    • (2011) Blood , vol.117 , pp. 3243-3246
    • Brown, L.1
  • 14
    • 78651362824 scopus 로고    scopus 로고
    • Early versus delayed diagnosis of severe combined immunodeficiency: A family perspective survey
    • Chan, A., Scalchunes, C., Boyle, M. & Puck, J. M. Early versus delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin. Immunol. 138, 3-8 (2011).
    • (2011) Clin. Immunol. , vol.138 , pp. 3-8
    • Chan, A.1    Scalchunes, C.2    Boyle, M.3    Puck, J.M.4
  • 15
    • 84929707133 scopus 로고    scopus 로고
    • History and current status of newborn screening for severe combined immunodeficiency
    • Kwan, A. & Puck, J. M. History and current status of newborn screening for severe combined immunodeficiency. Semin. Perinatol. 39, 194-205 (2015).
    • (2015) Semin. Perinatol. , vol.39 , pp. 194-205
    • Kwan, A.1    Puck, J.M.2
  • 16
    • 84925424134 scopus 로고    scopus 로고
    • Successful newborn screening for SCID in the Navajo nation
    • Kwan, A. et al. Successful newborn screening for SCID in the Navajo nation. Clin. Immunol. 158, 29-34 (2015).
    • (2015) Clin. Immunol. , vol.158 , pp. 29-34
    • Kwan, A.1
  • 17
    • 0037442176 scopus 로고    scopus 로고
    • Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: Report of the European experience 1968-1999
    • Antoine, C. et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-1999. Lancet 361, 553-560 (2003).
    • (2003) Lancet , vol.361 , pp. 553-560
    • Antoine, C.1
  • 18
    • 0035885937 scopus 로고    scopus 로고
    • Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: A study of 121 patients
    • Muller, S. M. et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 98, 1847-1851 (2001).
    • (2001) Blood , vol.98 , pp. 1847-1851
    • Muller, S.M.1
  • 19
    • 49749205320 scopus 로고
    • Reticular dysgenesis
    • De Vall, O. & Seyneheve, V. Reticular dysgenesis. Lancet 2, 1123-1125 (1959).
    • (1959) Lancet , vol.2 , pp. 1123-1125
    • De Vall, O.1    Seyneheve, V.2
  • 20
    • 58149142930 scopus 로고    scopus 로고
    • Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
    • Pannicke, U. et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat. Genet. 41, 101-105 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 101-105
    • Pannicke, U.1
  • 21
    • 58149144707 scopus 로고    scopus 로고
    • Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
    • Lagresle-Peyrou, C. et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat. Genet. 41, 106-111 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 106-111
    • Lagresle-Peyrou, C.1
  • 22
    • 26444551223 scopus 로고    scopus 로고
    • Disorders of purine and pyrimidine metabolism
    • Nyhan, W. L. Disorders of purine and pyrimidine metabolism. Mol. Genet. Metab. 86, 25-33 (2005).
    • (2005) Mol. Genet. Metab. , vol.86 , pp. 25-33
    • Nyhan, W.L.1
  • 23
    • 70350779711 scopus 로고    scopus 로고
    • How I treat ADA deficiency
    • Gaspar, H. B. et al. How I treat ADA deficiency. Blood 114, 3524-3532 (2009).
    • (2009) Blood , vol.114 , pp. 3524-3532
    • Gaspar, H.B.1
  • 24
    • 80053576718 scopus 로고    scopus 로고
    • Effects of purine nucleoside phosphorylase deficiency on thymocyte development
    • e1
    • Papinazath, T. et al. Effects of purine nucleoside phosphorylase deficiency on thymocyte development. J. Allergy Clin. Immunol. 128, 854-863.e1 (2011).
    • (2011) J. Allergy Clin. Immunol. , vol.128 , pp. 854-863
    • Papinazath, T.1
  • 25
    • 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. 202, 67-83 (2004).
    • (2004) Immunol. Rev. , vol.202 , pp. 67-83
    • Kovanen, P.E.1    Leonard, W.J.2
  • 26
    • 0029164841 scopus 로고
    • Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
    • Macchi, P. et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377, 65-68 (1995).
    • (1995) Nature , vol.377 , pp. 65-68
    • Macchi, P.1
  • 27
    • 0031740732 scopus 로고    scopus 로고
    • Defective IL7R expression in T-B+NK+ severe combined immunodeficiency
    • Puel, A., Ziegler, S. F., Buckley, R. H. & Leonard, W. J. Defective IL7R expression in T-B+NK+ severe combined immunodeficiency. Nat. Genet. 20, 394-397 (1998).
    • (1998) Nat. Genet. , vol.20 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3    Leonard, W.J.4
  • 28
    • 84925120155 scopus 로고    scopus 로고
    • Advances in IL-21 biology - Enhancing our understanding of human disease
    • Tangye, S. G. Advances in IL-21 biology - enhancing our understanding of human disease. Curr. Opin. Immunol. 34, 107-115 (2015).
    • (2015) Curr. Opin. Immunol. , vol.34 , pp. 107-115
    • Tangye, S.G.1
  • 29
    • 0032833976 scopus 로고    scopus 로고
    • Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: A single-center study of 22 patients
    • Haddad, E. et al. Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: a single-center study of 22 patients. Blood 94, 2923-2930 (1999).
    • (1999) Blood , vol.94 , pp. 2923-2930
    • Haddad, E.1
  • 30
    • 84875740332 scopus 로고    scopus 로고
    • Post-transplantation B cell function in different molecular types of SCID
    • Buckley, R. H. et al. Post-transplantation B cell function in different molecular types of SCID. J. Clin. Immunol. 33, 96-110 (2013).
    • (2013) J. Clin. Immunol. , vol.33 , pp. 96-110
    • Buckley, R.H.1
  • 31
    • 84891356675 scopus 로고    scopus 로고
    • Combined immunodeficiencies with nonfunctional T lymphocytes
    • Notarangelo, L. D. Combined immunodeficiencies with nonfunctional T lymphocytes. Adv. Immunol. 121, 121-190 (2014).
    • (2014) Adv. Immunol. , vol.121 , pp. 121-190
    • Notarangelo, L.D.1
  • 32
    • 84892636089 scopus 로고    scopus 로고
    • SCID patients with ARTEMIS versus RAG deficiencies following HCT: Increased risk of late toxicity in ARTEMIS-deficient SCID
    • Schuetz, C. et al. SCID patients with ARTEMIS versus RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 123, 281-289 (2014).
    • (2014) Blood , vol.123 , pp. 281-289
    • Schuetz, C.1
  • 33
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD3δ deficiency on maturation of α/β and γ/γ 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/γ T-cell lineages in severe combined immunodeficiency. N. Engl. J. Med. 349, 1821-1828 (2003).
    • (2003) N. Engl. J. Med. , vol.349 , pp. 1821-1828
    • Dadi, H.K.1    Simon, A.J.2    Roifman, C.M.3
  • 34
    • 0027509235 scopus 로고
    • Independent mutations of the human CD3-e gene resulting in a T cell receptor/ CD3 complex immunodeficiency
    • Soudais, C., de Villartay, J. P., Le Deist, F., Fischer, A. & Lisowska-Grospierre, B. Independent mutations of the human CD3-e gene resulting in a T cell receptor/ CD3 complex immunodeficiency. Nat. Genet. 3, 77-81 (1993).
    • (1993) Nat. Genet. , vol.3 , pp. 77-81
    • Soudais, C.1    De Villartay, J.P.2    Le Deist, F.3    Fischer, A.4    Lisowska-Grospierre, B.5
  • 35
    • 33646378182 scopus 로고    scopus 로고
    • Inherited and somatic CD3§ mutations in a patient with T-cell deficiency
    • Rieux-Laucat, F. et al. Inherited and somatic CD3§ mutations in a patient with T-cell deficiency. N. Engl. J. Med. 354, 1913-1921 (2006).
    • (2006) N. Engl. J. Med. , vol.354 , pp. 1913-1921
    • Rieux-Laucat, F.1
  • 36
    • 0034064779 scopus 로고    scopus 로고
    • Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease
    • Kung, C. et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat. Med. 6, 343-345 (2000).
    • (2000) Nat. Med. , vol.6 , pp. 343-345
    • Kung, C.1
  • 37
    • 0032577548 scopus 로고    scopus 로고
    • Partial V(D)J recombination activity leads to Omenn syndrome
    • Villa, A. et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93, 885-896 (1998).
    • (1998) Cell , vol.93 , pp. 885-896
    • Villa, A.1
  • 39
    • 43249105936 scopus 로고    scopus 로고
    • An immunodeficiency disease with RAG mutations and granulomas
    • Schuetz, C. et al. An immunodeficiency disease with RAG mutations and granulomas. N. Engl. J. Med. 358, 2030-2038 (2008).
    • (2008) N. Engl. J. Med. , vol.358 , pp. 2030-2038
    • Schuetz, C.1
  • 40
    • 84924372393 scopus 로고    scopus 로고
    • Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders
    • Buchbinder, D. et al. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J. Clin. Immunol. 35, 119-124 (2015).
    • (2015) J. Clin. Immunol. , vol.35 , pp. 119-124
    • Buchbinder, D.1
  • 41
    • 84897389616 scopus 로고    scopus 로고
    • A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
    • Lee, Y. N. et al. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. J. Allergy Clin. Immunol. 133, 1099-1108 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.133 , pp. 1099-1108
    • Lee, Y.N.1
  • 42
    • 84897444766 scopus 로고    scopus 로고
    • Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
    • Ijspeert, H. et al. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. J. Allergy Clin. Immunol. 133, 1124-1133 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.133 , pp. 1124-1133
    • Ijspeert, H.1
  • 43
    • 20044376279 scopus 로고    scopus 로고
    • AIRE deficiency in thymus of 2 patients with Omenn syndrome
    • Cavadini, P. et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J. Clin. Invest. 115, 728-732 (2005).
    • (2005) J. Clin. Invest. , vol.115 , pp. 728-732
    • Cavadini, P.1
  • 44
    • 77956501606 scopus 로고    scopus 로고
    • Hypomorphic Rag mutations can cause destructive midline granulomatous disease
    • De Ravin, S. S. et al. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood 116, 1263-1271 (2010).
    • (2010) Blood , vol.116 , pp. 1263-1271
    • De Ravin, S.S.1
  • 45
    • 0037112047 scopus 로고    scopus 로고
    • Projection of an immunological self shadow within the thymus by the AIRE protein
    • Anderson, M. S. et al. Projection of an immunological self shadow within the thymus by the AIRE protein. Science 298, 1395-1401 (2002).
    • (2002) Science , vol.298 , pp. 1395-1401
    • Anderson, M.S.1
  • 46
    • 27644559049 scopus 로고    scopus 로고
    • A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    • de Villartay, J. P. et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J. Clin. Invest. 115, 3291-3299 (2005).
    • (2005) J. Clin. Invest. , vol.115 , pp. 3291-3299
    • De Villartay, J.P.1
  • 47
    • 27644538025 scopus 로고    scopus 로고
    • A variant of SCID with specific immune responses and predominance of γδ T cells
    • Ehl, S. et al. A variant of SCID with specific immune responses and predominance of γδ T cells. J. Clin. Invest. 115, 3140-3148 (2005).
    • (2005) J. Clin. Invest. , vol.115 , pp. 3140-3148
    • Ehl, S.1
  • 48
    • 56749105459 scopus 로고    scopus 로고
    • Cartilage-hair hypoplasia: Molecular basis and heterogeneity of the immunological phenotype
    • Notarangelo, L. D., Roifman, C. M. & Giliani, S. Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. Curr. Opin. Allergy Clin. Immunol. 8, 534-539 (2008).
    • (2008) Curr. Opin. Allergy Clin. Immunol. , vol.8 , pp. 534-539
    • Notarangelo, L.D.1    Roifman, C.M.2    Giliani, S.3
  • 49
    • 0029902033 scopus 로고    scopus 로고
    • Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
    • Hirschhorn, R. et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13, 290-295 (1996).
    • (1996) Nat. Genet. , vol.13 , pp. 290-295
    • Hirschhorn, R.1
  • 50
    • 10544244162 scopus 로고    scopus 로고
    • Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
    • Stephan, V. et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 335, 1563-1567 (1996).
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1563-1567
    • Stephan, V.1
  • 51
    • 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. et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J. Clin. Invest. 119, 91-98 (2009).
    • (2009) J. Clin. Invest. , vol.119 , pp. 91-98
    • Van Der Burg, M.1
  • 52
    • 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. et al. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J. Clin. Invest. 116, 137-145 (2006).
    • (2006) J. Clin. Invest. , vol.116 , pp. 137-145
    • Van Der Burg, M.1
  • 53
    • 12944284582 scopus 로고    scopus 로고
    • Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor
    • Bousso, P. et al. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc. Natl Acad. Sci. USA 97, 274-278 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 274-278
    • Bousso, P.1
  • 54
    • 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. 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 106, 2099-2101 (2005).
    • (2005) Blood , vol.106 , pp. 2099-2101
    • Wada, T.1
  • 55
    • 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. 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. 9, 1307-1315 (2008).
    • (2008) Nat. Immunol. , vol.9 , pp. 1307-1315
    • Shiow, L.R.1
  • 56
    • 84878550216 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation
    • Moshous, D. et al. Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J. Allergy Clin. Immunol. 131, 1594-1603 (2013).
    • (2013) J. Allergy Clin. Immunol. , vol.131 , pp. 1594-1603
    • Moshous, D.1
  • 57
    • 84899866481 scopus 로고    scopus 로고
    • Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A
    • Mace, E. M. & Orange, J. S. Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A. Proc. Natl Acad. Sci. USA 111, 6708-6713 (2014).
    • (2014) Proc. Natl Acad. Sci. USA , vol.111 , pp. 6708-6713
    • Mace, E.M.1    Orange, J.S.2
  • 58
    • 84939874248 scopus 로고    scopus 로고
    • Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
    • Stray-Pedersen, A. et al. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J. Clin. Immunol. 34, 871-890 (2014).
    • (2014) J. Clin. Immunol. , vol.34 , pp. 871-890
    • Stray-Pedersen, A.1
  • 59
    • 0026729150 scopus 로고
    • Brief report: Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor
    • Arnaiz-Villena, A. et al. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor. N. Engl. J. Med. 327, 529-533 (1992).
    • (1992) N. Engl. J. Med. , vol.327 , pp. 529-533
    • Arnaiz-Villena, A.1
  • 60
    • 84876440663 scopus 로고    scopus 로고
    • Variable presentation of primary immune deficiency: Two cases with CD3γ deficiency presenting with only autoimmunity
    • Tokgoz, H. et al. Variable presentation of primary immune deficiency: two cases with CD3γ deficiency presenting with only autoimmunity. Pediatr. Allergy Immunol. 24, 257-262 (2013).
    • (2013) Pediatr. Allergy Immunol. , vol.24 , pp. 257-262
    • Tokgoz, H.1
  • 61
    • 84869144892 scopus 로고    scopus 로고
    • Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
    • e11
    • Hauck, F. et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J. Allergy Clin. Immunol. 130, 1144-1152.e11 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.130 , pp. 1144-1152
    • Hauck, F.1
  • 62
    • 0028269436 scopus 로고
    • Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase
    • Arpaia, E., Shahar, M., Dadi, H., Cohen, A. & Roifman, C. M. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase. Cell 76, 947-958 (1994).
    • (1994) Cell , vol.76 , pp. 947-958
    • Arpaia, E.1    Shahar, M.2    Dadi, H.3    Cohen, A.4    Roifman, C.M.5
  • 63
    • 0028292001 scopus 로고
    • Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase
    • Elder, M. E. et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264, 1596-1599 (1994).
    • (1994) Science , vol.264 , pp. 1596-1599
    • Elder, M.E.1
  • 64
    • 57049172523 scopus 로고    scopus 로고
    • Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
    • Turul, T. et al. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur. J. Pediatr. 168, 87-93 (2009).
    • (2009) Eur. J. Pediatr. , vol.168 , pp. 87-93
    • Turul, T.1
  • 65
    • 37049019860 scopus 로고    scopus 로고
    • Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions
    • Siggs, O. M. et al. Opposing functions of the T cell receptor kinase ZAP-70 in immunity and tolerance differentially titrate in response to nucleotide substitutions. Immunity 27, 912-926 (2007).
    • (2007) Immunity , vol.27 , pp. 912-926
    • Siggs, O.M.1
  • 66
    • 84869446316 scopus 로고    scopus 로고
    • Mst1 regulates integrin-dependent thymocyte trafficking and antigen recognition in the thymus
    • Ueda, Y. et al. Mst1 regulates integrin-dependent thymocyte trafficking and antigen recognition in the thymus. Nat. Commun. 3, 1098 (2012).
    • (2012) Nat. Commun. , vol.3 , pp. 1098
    • Ueda, Y.1
  • 67
    • 84861746032 scopus 로고    scopus 로고
    • The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes
    • Mou, F. et al. The Mst1 and Mst2 kinases control activation of rho family GTPases and thymic egress of mature thymocytes. J. Exp. Med. 209, 741-759 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 741-759
    • Mou, F.1
  • 68
    • 84859837132 scopus 로고    scopus 로고
    • The phenotype of human STK4 deficiency
    • Abdollahpour, H. et al. The phenotype of human STK4 deficiency. Blood 119, 3450-3457 (2012).
    • (2012) Blood , vol.119 , pp. 3450-3457
    • Abdollahpour, H.1
  • 69
    • 84859875061 scopus 로고    scopus 로고
    • MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
    • Nehme, N. T. et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood 119, 3458-3468 (2012).
    • (2012) Blood , vol.119 , pp. 3458-3468
    • Nehme, N.T.1
  • 70
    • 78649735549 scopus 로고    scopus 로고
    • RhoH regulates subcellular localization of ZAP-70 and Lck in T cell receptor signaling
    • Chae, H. D., Siefring, J. E., Hildeman, D. A., Gu, Y. & Williams, D. A. RhoH regulates subcellular localization of ZAP-70 and Lck in T cell receptor signaling. PLoS ONE 5, e13970 (2010).
    • (2010) PLoS ONE , vol.5 , pp. e13970
    • Chae, H.D.1    Siefring, J.E.2    Hildeman, D.A.3    Gu, Y.4    Williams, D.A.5
  • 71
    • 84865426636 scopus 로고    scopus 로고
    • Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
    • Crequer, A. et al. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J. Clin. Invest. 122, 3239-3247 (2012).
    • (2012) J. Clin. Invest. , vol.122 , pp. 3239-3247
    • Crequer, A.1
  • 72
    • 66449085077 scopus 로고    scopus 로고
    • Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation
    • Huck, K. et al. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J. Clin. Invest. 119, 1350-1358 (2009).
    • (2009) J. Clin. Invest. , vol.119 , pp. 1350-1358
    • Huck, K.1
  • 73
    • 84912042007 scopus 로고    scopus 로고
    • Interleukin-2-inducible T-cell kinase (ITK) deficiency - Clinical and molecular aspects
    • Ghosh, S., Bienemann, K., Boztug, K. & Borkhardt, A. Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects. J. Clin. Immunol. 34, 892-899 (2014).
    • (2014) J. Clin. Immunol. , vol.34 , pp. 892-899
    • Ghosh, S.1    Bienemann, K.2    Boztug, K.3    Borkhardt, A.4
  • 74
    • 70949098060 scopus 로고    scopus 로고
    • Combined immunodeficiency associated with DOCK8 mutations
    • Zhang, Q. et al. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361, 2046-2055 (2009).
    • (2009) N. Engl. J. Med. , vol.361 , pp. 2046-2055
    • Zhang, Q.1
  • 75
    • 84938738886 scopus 로고    scopus 로고
    • The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
    • Engelhardt, K. R. et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J. Allergy Clin. Immunol. 136, 402-412 (2015).
    • (2015) J. Allergy Clin. Immunol. , vol.136 , pp. 402-412
    • Engelhardt, K.R.1
  • 76
    • 84931403287 scopus 로고    scopus 로고
    • Inherited DOCK2 deficiency in patients with early-onset invasive infections
    • Dobbs, K. et al. Inherited DOCK2 deficiency in patients with early-onset invasive infections. N. Engl. J. Med. 372, 2409-2422 (2015).
    • (2015) N. Engl. J. Med. , vol.372 , pp. 2409-2422
    • Dobbs, K.1
  • 77
    • 33646576875 scopus 로고    scopus 로고
    • A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
    • Feske, S. et al. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 441, 179-185 (2006).
    • (2006) Nature , vol.441 , pp. 179-185
    • Feske, S.1
  • 78
    • 65649088588 scopus 로고    scopus 로고
    • STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
    • Picard, C. et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N. Engl. J. Med. 360, 1971-1980 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1971-1980
    • Picard, C.1
  • 79
    • 79960915373 scopus 로고    scopus 로고
    • Second messenger role for Mg2+ revealed by human T-cell immunodeficiency
    • Li, F. Y. et al. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature 475, 471-476 (2011).
    • (2011) Nature , vol.475 , pp. 471-476
    • Li, F.Y.1
  • 80
    • 84873348862 scopus 로고    scopus 로고
    • Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
    • e1
    • Stepensky, P. et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J. Allergy Clin. Immunol. 131, 477-485.e1 (2013).
    • (2013) J. Allergy Clin. Immunol. , vol.131 , pp. 477-485
    • Stepensky, P.1
  • 81
    • 84882912219 scopus 로고    scopus 로고
    • A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency
    • Jabara, H. H. et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J. Allergy Clin. Immunol. 132, 151-158 (2013).
    • (2013) J. Allergy Clin. Immunol. , vol.132 , pp. 151-158
    • Jabara, H.H.1
  • 82
    • 84915745173 scopus 로고    scopus 로고
    • Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
    • Torres, J. M. et al. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J. Clin. Invest. 124, 5239-5248 (2014).
    • (2014) J. Clin. Invest. , vol.124 , pp. 5239-5248
    • Torres, J.M.1
  • 83
    • 84890918243 scopus 로고    scopus 로고
    • Deficiency of innate and acquired immunity caused by an IKBKB mutation
    • Pannicke, U. et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N. Engl. J. Med. 369, 2504-2514 (2013).
    • (2013) N. Engl. J. Med. , vol.369 , pp. 2504-2514
    • Pannicke, U.1
  • 84
    • 84907259501 scopus 로고    scopus 로고
    • A nonsense mutation in IKBKB causes combined immunodeficiency
    • Mousallem, T. et al. A nonsense mutation in IKBKB causes combined immunodeficiency. Blood 124, 2046-2050 (2014).
    • (2014) Blood , vol.124 , pp. 2046-2050
    • Mousallem, T.1
  • 85
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
    • Doffinger, R. et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat. Genet. 27, 277-285 (2001).
    • (2001) Nat. Genet. , vol.27 , pp. 277-285
    • Doffinger, R.1
  • 86
    • 0036599324 scopus 로고    scopus 로고
    • Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    • Dupuis-Girod, S. et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109, e97 (2002).
    • (2002) Pediatrics , vol.109 , pp. e97
    • Dupuis-Girod, S.1
  • 87
    • 85047693559 scopus 로고    scopus 로고
    • A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    • Courtois, G. et al. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112, 1108-1115 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 1108-1115
    • Courtois, G.1
  • 88
    • 84902342846 scopus 로고    scopus 로고
    • CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
    • Martin, E. et al. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature 510, 288-292 (2014).
    • (2014) Nature , vol.510 , pp. 288-292
    • Martin, E.1
  • 89
    • 84857800335 scopus 로고    scopus 로고
    • CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
    • e6
    • van Montfrans, J. M. et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J. Allergy Clin. Immunol. 129, 787-793.e6 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129 , pp. 787-793
    • Van Montfrans, J.M.1
  • 90
    • 3242892589 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks
    • Digweed, M. & Sperling, K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst.) 3, 1207-1217 (2004).
    • (2004) DNA Repair (Amst.) , vol.3 , pp. 1207-1217
    • Digweed, M.1    Sperling, K.2
  • 92
    • 84900443034 scopus 로고    scopus 로고
    • Cell biology of disease: Telomeropathies: An emerging spectrum disorder
    • Holohan, B., Wright, W. E. & Shay, J. W. Cell biology of disease: telomeropathies: an emerging spectrum disorder. J. Cell Biol. 205, 289-299 (2014).
    • (2014) J. Cell Biol. , vol.205 , pp. 289-299
    • Holohan, B.1    Wright, W.E.2    Shay, J.W.3
  • 93
    • 84856420736 scopus 로고    scopus 로고
    • Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita
    • e3
    • Touzot, F. et al. Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. J. Allergy Clin. Immunol. 129, 473-482.e3 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129 , pp. 473-482
    • Touzot, F.1
  • 94
    • 84881146125 scopus 로고    scopus 로고
    • Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability
    • Le Guen, T. et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum. Mol. Genet. 22, 3239-3249 (2013).
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 3239-3249
    • Le Guen, T.1
  • 95
    • 84908587479 scopus 로고    scopus 로고
    • Bone marrow failure and the telomeropathies
    • Townsley, D. M., Dumitriu, B. & Young, N. S. Bone marrow failure and the telomeropathies. Blood 124, 2775-2783 (2014).
    • (2014) Blood , vol.124 , pp. 2775-2783
    • Townsley, D.M.1    Dumitriu, B.2    Young, N.S.3
  • 96
    • 0005375436 scopus 로고
    • Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")
    • (in German)
    • Hitzig, W. H. & Willi, H. [Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")]. Schweiz. Med. Wochenschr. 91, 1625-1633 (in German) (1961).
    • (1961) Schweiz. Med. Wochenschr. , vol.91 , pp. 1625-1633
    • Hitzig, W.H.1    Willi, H.2
  • 97
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • Bruton, O. C. Agammaglobulinemia. Pediatrics 9, 722-728 (1952).
    • (1952) Pediatrics , vol.9 , pp. 722-728
    • Bruton, O.C.1
  • 98
    • 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. et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front. Immunol. 5, 162 (2014).
    • (2014) Front. Immunol. , vol.5 , pp. 162
    • Al-Herz, W.1
  • 99
    • 84885189606 scopus 로고    scopus 로고
    • The natural history of children with severe combined immunodeficiency: Baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901
    • Dvorak, C. C. et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J. Clin. Immunol. 33, 1156-1164 (2013).
    • (2013) J. Clin. Immunol. , vol.33 , pp. 1156-1164
    • Dvorak, C.C.1
  • 100
    • 0242550686 scopus 로고    scopus 로고
    • Lymphocyte subsets in healthy children from birth through 18 years of age: The Pediatric AIDS Clinical Trials Group P1009 study
    • Shearer, W. T. et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J. Allergy Clin. Immunol. 112, 973-980 (2003).
    • (2003) J. Allergy Clin. Immunol. , vol.112 , pp. 973-980
    • Shearer, W.T.1
  • 101
    • 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. 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. 133, 1092-1098 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.133 , pp. 1092-1098
    • Shearer, W.T.1
  • 102
    • 84933180778 scopus 로고    scopus 로고
    • Severe combined immunodeficiency: Recent developments and guidance on clinical management
    • Rivers, L. & Gaspar, H. B. Severe combined immunodeficiency: recent developments and guidance on clinical management. Arch. Dis. Child 100, 667-672 (2015).
    • (2015) Arch. Dis. Child , vol.100 , pp. 667-672
    • Rivers, L.1    Gaspar, H.B.2
  • 103
    • 0014345394 scopus 로고
    • Principles and practice of mass screening for disease
    • (in Spanish)
    • Wilson, J. M. & Jungner, Y. G. [Principles and practice of mass screening for disease]. Bol. Oficina Sanit. Panam. 65, 281-393 (in Spanish) (1968).
    • (1968) Bol. Oficina Sanit. Panam. , vol.65 , pp. 281-393
    • Wilson, J.M.1    Jungner, Y.G.2
  • 104
    • 84857800108 scopus 로고    scopus 로고
    • Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles
    • Puck, J. M. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J. Allergy Clin. Immunol. 129, 607-616 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129 , pp. 607-616
    • Puck, J.M.1
  • 105
    • 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. 115, 391-398 (2005).
    • (2005) J. Allergy Clin. Immunol. , vol.115 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 106
    • 71549170927 scopus 로고    scopus 로고
    • Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards
    • Morinishi, Y. et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr. 155, 829-833 (2009).
    • (2009) J. Pediatr. , vol.155 , pp. 829-833
    • Morinishi, Y.1
  • 107
    • 84904876386 scopus 로고    scopus 로고
    • Transplantation outcomes for severe combined immunodeficiency, 2000-2009
    • Pai, S. Y. et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N. Engl. J. Med. 371, 434-446 (2014).
    • (2014) N. Engl. J. Med. , vol.371 , pp. 434-446
    • Pai, S.Y.1
  • 108
    • 77956384499 scopus 로고    scopus 로고
    • High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening
    • Gerstel-Thompson, J. L. et al. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening. Clin. Chem. 56, 1466-1474 (2010).
    • (2010) Clin. Chem. , vol.56 , pp. 1466-1474
    • Gerstel-Thompson, J.L.1
  • 109
    • 84862249006 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency; The Wisconsin experience (2008-2011)
    • Verbsky, J. W. et al. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011). J. Clin. Immunol. 32, 82-88 (2012).
    • (2012) J. Clin. Immunol. , vol.32 , pp. 82-88
    • Verbsky, J.W.1
  • 110
    • 84882791221 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years
    • Kwan, A. et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J. Allergy Clin. Immunol. 132, 140-150 (2013).
    • (2013) J. Allergy Clin. Immunol. , vol.132 , pp. 140-150
    • Kwan, A.1
  • 111
    • 84898057637 scopus 로고    scopus 로고
    • Newborn screening for SCID in New York State: Experience from the first two years
    • Vogel, B. H. et al. Newborn screening for SCID in New York State: experience from the first two years. J. Clin. Immunol. 34, 289-303 (2014).
    • (2014) J. Clin. Immunol. , vol.34 , pp. 289-303
    • Vogel, B.H.1
  • 112
    • 17444372347 scopus 로고    scopus 로고
    • Changes in thymic function with age and during the treatment of HIV infection
    • Douek, D. C. et al. Changes in thymic function with age and during the treatment of HIV infection. Nature 396, 690-695 (1998).
    • (1998) Nature , vol.396 , pp. 690-695
    • Douek, D.C.1
  • 114
    • 77956395504 scopus 로고    scopus 로고
    • Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better?
    • e11
    • Gennery, A. R. et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J. Allergy Clin. Immunol. 126, 602-610.e11 (2010).
    • (2010) J. Allergy Clin. Immunol. , vol.126 , pp. 602-610
    • Gennery, A.R.1
  • 115
    • 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. & Buckley, R. H. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99, 872-878 (2002).
    • (2002) Blood , vol.99 , pp. 872-878
    • Myers, L.A.1    Patel, D.D.2    Puck, J.M.3    Buckley, R.H.4
  • 116
    • 84858851280 scopus 로고    scopus 로고
    • Transplantation in patients with SCID: Mismatched related stem cells or unrelated cord blood?
    • Fernandes, J. F. et al. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? Blood 119, 2949-2955 (2012).
    • (2012) Blood , vol.119 , pp. 2949-2955
    • Fernandes, J.F.1
  • 117
    • 70349321606 scopus 로고    scopus 로고
    • Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras
    • Sarzotti-Kelsoe, M. et al. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood 114, 1445-1453 (2009).
    • (2009) Blood , vol.114 , pp. 1445-1453
    • Sarzotti-Kelsoe, M.1
  • 118
    • 84867745449 scopus 로고    scopus 로고
    • Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency
    • Hassan, A. et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood 120, 3615-3624 (2012).
    • (2012) Blood , vol.120 , pp. 3615-3624
    • Hassan, A.1
  • 119
    • 79952698207 scopus 로고    scopus 로고
    • Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: Longterm outcomes
    • Buckley, R. H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol. Res. 49, 25-43 (2011).
    • (2011) Immunol. Res. , vol.49 , pp. 25-43
    • Buckley, R.H.1
  • 120
    • 84927547046 scopus 로고    scopus 로고
    • γδ T-cell reconstitution after HLA-haploidentical hematopoietic transplantation depleted of TCR-αβ+/CD19+ lymphocytes
    • Airoldi, I. et al. γδ T-cell reconstitution after HLA-haploidentical hematopoietic transplantation depleted of TCR-αβ+/CD19+ lymphocytes. Blood 125, 2349-2358 (2015).
    • (2015) Blood , vol.125 , pp. 2349-2358
    • Airoldi, I.1
  • 121
    • 84936820148 scopus 로고    scopus 로고
    • CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study
    • e3
    • Touzot, F. et al. CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: a preliminary study. J. Allergy Clin. Immunol. 135, 1303-1309.e3 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.135 , pp. 1303-1309
    • Touzot, F.1
  • 122
    • 0020582124 scopus 로고
    • Construction of a retrovirus packaging mutant and its use to produce helper-free defective retrovirus
    • Mann, R., Mulligan, R. C. & Baltimore, D. Construction of a retrovirus packaging mutant and its use to produce helper-free defective retrovirus. Cell 33, 153-159 (1983).
    • (1983) Cell , vol.33 , pp. 153-159
    • Mann, R.1    Mulligan, R.C.2    Baltimore, D.3
  • 123
    • 0029996147 scopus 로고    scopus 로고
    • In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector
    • Naldini, L. et al. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 272, 263-267 (1996).
    • (1996) Science , vol.272 , pp. 263-267
    • Naldini, L.1
  • 124
    • 59449098985 scopus 로고    scopus 로고
    • Gene therapy for immunodeficiency due to adenosine deaminase deficiency
    • Aiuti, A. et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med. 360, 447-458 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 447-458
    • Aiuti, A.1
  • 125
    • 0142084745 scopus 로고    scopus 로고
    • LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1
    • Hacein-Bey-Abina, S. et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302, 415-419 (2003).
    • (2003) Science , vol.302 , pp. 415-419
    • Hacein-Bey-Abina, S.1
  • 126
    • 80052048463 scopus 로고    scopus 로고
    • Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency
    • Gaspar, H. B. et al. Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. Sci. Transl. Med. 3, 97ra79 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , pp. 97ra79
    • Gaspar, H.B.1
  • 127
    • 77954833516 scopus 로고    scopus 로고
    • Efficacy of gene therapy for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina, S. et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med. 363, 355-364 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 355-364
    • Hacein-Bey-Abina, S.1
  • 128
    • 51349158298 scopus 로고    scopus 로고
    • Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients
    • Howe, S. J. et al. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J. Clin. Invest. 118, 3143-3150 (2008).
    • (2008) J. Clin. Invest. , vol.118 , pp. 3143-3150
    • Howe, S.J.1
  • 129
    • 51349090473 scopus 로고    scopus 로고
    • Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
    • Hacein-Bey-Abina, S. et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest. 118, 3132-3142 (2008).
    • (2008) J. Clin. Invest. , vol.118 , pp. 3132-3142
    • Hacein-Bey-Abina, S.1
  • 130
    • 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. et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 120, 3635-3646 (2012).
    • (2012) Blood , vol.120 , pp. 3635-3646
    • Candotti, F.1
  • 131
    • 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
    • Gaspar, H. B. 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. 3, 97ra80 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , pp. 97ra80
    • Gaspar, H.B.1
  • 132
    • 84907880404 scopus 로고    scopus 로고
    • A modified γ-retrovirus vector for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina, S. et al. A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N. Engl. J. Med. 371, 1407-1417 (2014).
    • (2014) N. Engl. J. Med. , vol.371 , pp. 1407-1417
    • Hacein-Bey-Abina, S.1
  • 133
    • 84984688259 scopus 로고    scopus 로고
    • Immunological and metabolic correction after lentiviral vector mediated haematopoietic stem cell gene therapy for ADA deficiency
    • Gaspar, H. B. et al. Immunological and metabolic correction after lentiviral vector mediated haematopoietic stem cell gene therapy for ADA deficiency. Mol. Ther. 22, S106 (2014).
    • (2014) Mol. Ther. , vol.22 , pp. S106
    • Gaspar, H.B.1
  • 134
    • 84930622918 scopus 로고    scopus 로고
    • Faster T-cell development following gene therapy compared to haplo-identical hematopoietic stem cell transplantation in the treatment of SCID-X1
    • Touzot, F. et al. Faster T-cell development following gene therapy compared to haplo-identical hematopoietic stem cell transplantation in the treatment of SCID-X1. Blood 125, 3563-3569 (2015).
    • (2015) Blood , vol.125 , pp. 3563-3569
    • Touzot, F.1
  • 135
    • 84902315464 scopus 로고    scopus 로고
    • Targeted genome editing in human repopulating haematopoietic stem cells
    • Genovese, P. et al. Targeted genome editing in human repopulating haematopoietic stem cells. Nature 510, 235-240 (2014).
    • (2014) Nature , vol.510 , pp. 235-240
    • Genovese, P.1
  • 136
    • 35148815335 scopus 로고    scopus 로고
    • Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency
    • Mazzolari, E. et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J. Allergy Clin. Immunol. 120, 892-899 (2007).
    • (2007) J. Allergy Clin. Immunol. , vol.120 , pp. 892-899
    • Mazzolari, E.1
  • 137
    • 65449161797 scopus 로고    scopus 로고
    • Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency
    • Neven, B. et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood 113, 4114-4124 (2009).
    • (2009) Blood , vol.113 , pp. 4114-4124
    • Neven, B.1
  • 138
    • 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. 155, 834-840.e1 (2009).
    • (2009) J. Pediatr. , vol.155 , pp. 834-840
    • Railey, M.D.1    Lokhnygina, Y.2    Buckley, R.H.3
  • 139
    • 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. 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 363, 2051-2054 (2004).
    • (2004) Lancet , vol.363 , pp. 2051-2054
    • Laffort, C.1
  • 140
    • 5644227470 scopus 로고    scopus 로고
    • Severe cutaneous papillomavirus disease after haematopoietic stem-cell transplantation in patients with severe combined immunodeficiency
    • Gaspar, H. B., Harwood, C., Leigh, I. & Thrasher, A. J. Severe cutaneous papillomavirus disease after haematopoietic stem-cell transplantation in patients with severe combined immunodeficiency. Br. J. Haematol. 127, 232-233 (2004).
    • (2004) Br. J. Haematol. , vol.127 , pp. 232-233
    • Gaspar, H.B.1    Harwood, C.2    Leigh, I.3    Thrasher, A.J.4
  • 141
    • 79959825049 scopus 로고    scopus 로고
    • Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis
    • e2
    • Lagresle-Peyrou, C. et al. Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. J. Allergy Clin. Immunol. 128, 230-232.e2 (2011).
    • (2011) J. Allergy Clin. Immunol. , vol.128 , pp. 230-232
    • Lagresle-Peyrou, C.1
  • 142
    • 84867744664 scopus 로고    scopus 로고
    • The road to purified hematopoietic stem cell transplants is paved with antibodies
    • Logan, A. C., Weissman, I. L. & Shizuru, J. A. The road to purified hematopoietic stem cell transplants is paved with antibodies. Curr. Opin. Immunol. 24, 640-648 (2012).
    • (2012) Curr. Opin. Immunol. , vol.24 , pp. 640-648
    • Logan, A.C.1    Weissman, I.L.2    Shizuru, J.A.3
  • 143
    • 0034968336 scopus 로고    scopus 로고
    • Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency
    • Rogers, M. H., Lwin, R., Fairbanks, L., Gerritsen, B. & Gaspar, H. B. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J. Pediatr. 139, 44-50 (2001).
    • (2001) J. Pediatr. , vol.139 , pp. 44-50
    • Rogers, M.H.1    Lwin, R.2    Fairbanks, L.3    Gerritsen, B.4    Gaspar, H.B.5
  • 144
    • 84864326863 scopus 로고    scopus 로고
    • Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/ γc-/- mice
    • Reimann, C. et al. Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/ γc-/- mice. Stem Cells 30, 1771-1780 (2012).
    • (2012) Stem Cells , vol.30 , pp. 1771-1780
    • Reimann, C.1
  • 145
    • 84899527626 scopus 로고    scopus 로고
    • Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors
    • Riddell, J. et al. Reprogramming committed murine blood cells to induced hematopoietic stem cells with defined factors. Cell 157, 549-564 (2014).
    • (2014) Cell , vol.157 , pp. 549-564
    • Riddell, J.1
  • 146
    • 84902133026 scopus 로고    scopus 로고
    • Wnt signaling controls the specification of definitive and primitive hematopoiesis from human pluripotent stem cells
    • Sturgeon, C. M., Ditadi, A., Awong, G., Kennedy, M. & Keller, G. Wnt signaling controls the specification of definitive and primitive hematopoiesis from human pluripotent stem cells. Nat. Biotech. 32, 554-561 (2014).
    • (2014) Nat. Biotech. , vol.32 , pp. 554-561
    • Sturgeon, C.M.1    Ditadi, A.2    Awong, G.3    Kennedy, M.4    Keller, G.5
  • 147
    • 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. et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 109, 4539-4547 (2007).
    • (2007) Blood , vol.109 , pp. 4539-4547
    • Markert, M.L.1
  • 148
    • 84879880328 scopus 로고    scopus 로고
    • Newborn screening for SCID identifies patients with ataxia telangiectasia
    • Mallott, J. et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J. Clin. Immunol. 33, 540-549 (2013).
    • (2013) J. Clin. Immunol. , vol.33 , pp. 540-549
    • Mallott, J.1
  • 149
    • 84892928479 scopus 로고    scopus 로고
    • TTC7A mutations disrupt intestinal epithelial apicobasal polarity
    • Bigorgne, A. E. et al. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J. Clin. Invest. 124, 328-337 (2014).
    • (2014) J. Clin. Invest. , vol.124 , pp. 328-337
    • Bigorgne, A.E.1
  • 150
    • 84919918303 scopus 로고    scopus 로고
    • Dual proteolytic pathways govern glycolysis and immune competence
    • Lu, W. et al. Dual proteolytic pathways govern glycolysis and immune competence. Cell 159, 1578-1590 (2014).
    • (2014) Cell , vol.159 , pp. 1578-1590
    • Lu, W.1
  • 151
    • 84904036824 scopus 로고    scopus 로고
    • PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
    • Stray-Pedersen, A. et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am. J. Hum. Genet. 95, 96-107 (2014).
    • (2014) Am. J. Hum. Genet. , vol.95 , pp. 96-107
    • Stray-Pedersen, A.1
  • 152
    • 84919599348 scopus 로고    scopus 로고
    • Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
    • e6
    • Lemoine, R. et al. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. J. Allergy Clin. Immunol. 134, 1354-1364.e6 (2014).
    • (2014) J. Allergy Clin. Immunol. , vol.134 , pp. 1354-1364
    • Lemoine, R.1
  • 153
    • 84864293404 scopus 로고    scopus 로고
    • Induced pluripotent stem cells and severe combined immunodeficiency: Merely disease modeling or potentially a novel cure?
    • Mikkers, H., Pike-Overzet, K. & Staal, F. J. Induced pluripotent stem cells and severe combined immunodeficiency: merely disease modeling or potentially a novel cure? Pediatr. Res. 71, 427-432 (2012).
    • (2012) Pediatr. Res. , vol.71 , pp. 427-432
    • Mikkers, H.1    Pike-Overzet, K.2    Staal, F.J.3
  • 154
    • 10144253125 scopus 로고    scopus 로고
    • RAG mutations in human B cell-negative SCID
    • Schwarz, K. et al. RAG mutations in human B cell-negative SCID. Science 274, 97-99 (1996).
    • (1996) Science , vol.274 , pp. 97-99
    • Schwarz, K.1
  • 155
    • 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 with increased radiosensitivity (RS-SCID)
    • Moshous, D. et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein is mutated in human severe combined immune deficiency with increased radiosensitivity (RS-SCID). Cell 105, 177-186 (2001).
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1
  • 156
    • 31044440630 scopus 로고    scopus 로고
    • Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
    • Buck, D. et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124, 287-299 (2006).
    • (2006) Cell , vol.124 , pp. 287-299
    • Buck, D.1
  • 157
    • 0346244098 scopus 로고    scopus 로고
    • The mechanisms of immune diversification and their disorders
    • de Villartay, J. P., Fischer, A. & Durandy, A. The mechanisms of immune diversification and their disorders. Nat. Rev. Immunol. 3, 962-972 (2003).
    • (2003) Nat. Rev. Immunol. , vol.3 , pp. 962-972
    • De Villartay, J.P.1    Fischer, A.2    Durandy, A.3
  • 159
    • 79959856336 scopus 로고    scopus 로고
    • Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
    • de la Fuente, M. A. et al. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J. Allergy Clin. Immunol. 128, 139-146 (2011).
    • (2011) J. Allergy Clin. Immunol. , vol.128 , pp. 139-146
    • De La Fuente, M.A.1
  • 160
    • 0033993725 scopus 로고    scopus 로고
    • Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
    • Boerkoel, C. F. et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur. J. Pediatr. 159, 1-7 (2000).
    • (2000) Eur. J. Pediatr. , vol.159 , pp. 1-7
    • Boerkoel, C.F.1
  • 161
    • 84896492362 scopus 로고    scopus 로고
    • Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease
    • Avitzur, Y. et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 146, 1028-1039 (2014).
    • (2014) Gastroenterology , vol.146 , pp. 1028-1039
    • Avitzur, Y.1
  • 162
    • 84982091050 scopus 로고    scopus 로고
    • Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
    • Woutsas, S. et al. Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. Blood 125, 1674-1676 (2015).
    • (2015) Blood , vol.125 , pp. 1674-1676
    • Woutsas, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.