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Volumn 5, Issue , 2012, Pages 67-80

The genetic basis of severe combined immunodeficiency and its variants

Author keywords

Lymphocytes; Molecular defects; Severe combined immune deficiency

Indexed keywords

ADENOSINE DEAMINASE; CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; CD3 ANTIGEN; CD3 GAMMA ANTIGEN; CD40 ANTIGEN; CD40 LIGAND; CD45 ANTIGEN; CD8 ANTIGEN; CELL PROTEIN; CERNUNNOS; DEDICATOR OF CYTOKINESIS 8; DNA LIGASE IV; GENOMIC DNA; INTERLEUKIN 2 RECEPTOR ALPHA; INTERLEUKIN 2 TYROSINE KINASE; INTERLEUKIN 7 RECEPTOR ALPHA; JANUS KINASE 3; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN KINASE LCK; PROTEIN KINASE ZAP 70; PROTEIN TYROSINE KINASE; PURINE NUCLEOSIDE PHOSPHORYLASE; RAG1 PROTEIN; RAG2 PROTEIN; STAT5B PROTEIN; STROMAL INTERACTION MOLECULE 1; UNCLASSIFIED DRUG; WINGED HELIX TRANSCRIPTION FACTOR;

EID: 84865804949     PISSN: 1178704X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (46)

References (80)
  • 2
    • 71449120471 scopus 로고    scopus 로고
    • Primary immunodeficiencies: 2009 update
    • nternational Union of Immunological Societies Expert Committee on Primary Immunodeficiencies
    • International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies; Notarangelo LD, Fischer A, Geha RS, etal. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124(6):1161-1178.
    • (2009) J Allergy Clin Immunol. , vol.124 , Issue.6 , pp. 1161-1178
    • Notarangelo, L.D.1    Fischer, A.2    Geha, R.S.3
  • 3
    • 79959694621 scopus 로고    scopus 로고
    • Molecular diagnosis of severe combined immunodeficiency: Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2mutations in a cohort of Chinese and southeast Asian children
    • Lee PP, Chan KW, Chen TX, etal. Molecular diagnosis of severe combined immunodeficiency: Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2mutations in a cohort of Chinese and southeast Asian children. J Clin Immunol. 2011;31(2):281-296.
    • (2011) J Clin Immunol. , vol.31 , Issue.2 , pp. 281-296
    • Lee, P.P.1    Chan, K.W.2    Chen, T.X.3
  • 4
    • 33645987896 scopus 로고    scopus 로고
    • High incidence of severe combined immune deficiency in the Eastern Province of Saudi Arabia
    • Suliaman F, Al-Ghonaium A, Harfi H. High incidence of severe combined immune deficiency in the Eastern Province of Saudi Arabia. Pediatr Asthma Allergy Immunol. 2006;19(1):14-18.
    • (2006) Pediatr Asthma Allergy Immunol. , vol.19 , Issue.1 , pp. 14-18
    • Suliaman, F.1    Al-Ghonaium, A.2    Harfi, H.3
  • 5
    • 0036843771 scopus 로고    scopus 로고
    • The incidence of primary immunodeficiency syndromes in Israel
    • Golan H, Dalal I, Garty BZ, etal. The incidence of primary immunodeficiency syndromes in Israel. Isr Med Assoc J. 2002;4(11):868-871.
    • (2002) Isr Med Assoc J. , vol.4 , Issue.11 , pp. 868-871
    • Golan, H.1    Dalal, I.2    Garty, B.Z.3
  • 6
    • 4544366117 scopus 로고    scopus 로고
    • Combined immunodeficiencies
    • In: Stiehm ER, Ochs HD, Winkelstein JA, editors, 5th ed. Philadelphia, PA: Elsevier Saunders
    • Fischer A, Notarangelo LD. Combined immunodeficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA, editors. Immunologic Disorders in Infants and Children, 5th ed. Philadelphia, PA: Elsevier Saunders; 2004:3-16.
    • (2004) Immunologic Disorders in Infants and Children , pp. 3-16
    • Fischer, A.1    Notarangelo, L.D.2
  • 7
    • 84865811049 scopus 로고    scopus 로고
    • T lymphocytes, B lymphocytes, and natural killer cells
    • In: Behrman RE, Kliegman RM, Jenson HB, editors, 19th ed. Philadelphia, PA: W.B. Saunders
    • Buckley RH. T lymphocytes, B lymphocytes, and natural killer cells. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics, 19th ed. Philadelphia, PA: W.B. Saunders; 2011:722.
    • (2011) Nelson Textbook of Pediatrics , pp. 722
    • Buckley, R.H.1
  • 8
    • 0141853011 scopus 로고    scopus 로고
    • Genotype is an important determinant of phenotype in adenosine deaminase deficiency
    • Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2003;15(5): 571-577.
    • (2003) Curr Opin Immunol. , vol.15 , Issue.5 , pp. 571-577
    • Hershfield, M.S.1
  • 9
    • 77953018306 scopus 로고    scopus 로고
    • Bone marrow transplantation and alternatives for adenosine deaminase deficiency
    • Gaspar HB. Bone marrow transplantation and alternatives for adenosine deaminase deficiency. Immunol Allergy Clin North Am. 2010;30(2):221-236.
    • (2010) Immunol Allergy Clin North Am. , vol.30 , Issue.2 , pp. 221-236
    • Gaspar, H.B.1
  • 10
    • 58149144707 scopus 로고    scopus 로고
    • Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
    • Lagresle-Peyrou C, Six EM, Picard C, etal. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009;41(1):106-111.
    • (2009) Nat Genet. , vol.41 , Issue.1 , pp. 106-111
    • Lagresle-Peyrou, C.1    Six, E.M.2    Picard, C.3
  • 11
    • 70349574621 scopus 로고    scopus 로고
    • V(D)J recombination deficiencies
    • de Villartay JP. V(D)J recombination deficiencies. Adv Exp Med Biol. 2009;650:46-58.
    • (2009) Adv Exp Med Biol. , vol.650 , pp. 46-58
    • de Villartay, J.P.1
  • 12
    • 0026047309 scopus 로고
    • Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus
    • Schwarz K, Hansen-Hagge TE, Knobloch C, Friedrich W, Kleihauer E, Bartram CR. Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. J Exp Med. 1991;174(5):1039-1048.
    • (1991) J Exp Med. , vol.174 , Issue.5 , pp. 1039-1048
    • Schwarz, K.1    Hansen-Hagge, T.E.2    Knobloch, C.3    Friedrich, W.4    Kleihauer, E.5    Bartram, C.R.6
  • 13
    • 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, etal. 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(4):627-634.
    • (1998) J Exp Med. , vol.188 , Issue.4 , pp. 627-634
    • Nicolas, N.1    Moshous, D.2    Cavazzana-Calvo, M.3
  • 14
    • 0035161258 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations
    • Villa A, Sobacchi C, Notarangelo LD, etal. V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations. Blood. 2001;97(1):81-88.
    • (2001) Blood. , vol.97 , Issue.1 , pp. 81-88
    • Villa, A.1    Sobacchi, C.2    Notarangelo, L.D.3
  • 15
    • 77950629359 scopus 로고    scopus 로고
    • More than just SCID-the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2
    • Niehues T, Perez-Becker R, Schuetz C. More than just SCID-the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010;135(2):183-192.
    • (2010) Clin Immunol. , vol.135 , Issue.2 , pp. 183-192
    • Niehues, T.1    Perez-Becker, R.2    Schuetz, C.3
  • 16
    • 1842529347 scopus 로고    scopus 로고
    • Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B-severe combined immunodeficiency or Omenn's syndrome
    • Tabori U, Mark Z, Amariglio N, etal. Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B-severe combined immunodeficiency or Omenn's syndrome. Clin Genet. 2004;65(4):322-326.
    • (2004) Clin Genet. , vol.65 , Issue.4 , pp. 322-326
    • Tabori, U.1    Mark, Z.2    Amariglio, N.3
  • 17
    • 80051791964 scopus 로고    scopus 로고
    • Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome
    • Dalal I, Tasher D, Somech R, etal. Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. Clin Immunol. 2011;140(3):284-290.
    • (2011) Clin Immunol. , vol.140 , Issue.3 , pp. 284-290
    • Dalal, I.1    Tasher, D.2    Somech, R.3
  • 18
    • 0037097787 scopus 로고    scopus 로고
    • Founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans
    • Li L, Moshous D, Zhou Y, etal. Founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002;168(12):6323-6329.
    • (2002) J Immunol. , vol.168 , Issue.12 , pp. 6323-6329
    • Li, L.1    Moshous, D.2    Zhou, Y.3
  • 19
    • 0037441592 scopus 로고    scopus 로고
    • Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
    • Noordzij JG, Verkaik NS, van der Burg M, etal. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. Blood. 2003;101(4):1446-1452.
    • (2003) Blood. , vol.101 , Issue.4 , pp. 1446-1452
    • Noordzij, J.G.1    Verkaik, N.S.2    van der Burg, M.3
  • 20
    • 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 NS, etal. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009;119(1):91-98.
    • (2009) J Clin Invest. , vol.119 , Issue.1 , pp. 91-98
    • van der Burg, M.1    Ijspeert, H.2    Verkaik, N.S.3
  • 21
    • 0027403374 scopus 로고
    • Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi M, Yi H, Rosenblatt HM, etal. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73(1):147-157.
    • (1993) Cell. , vol.73 , Issue.1 , pp. 147-157
    • Noguchi, M.1    Yi, H.2    Rosenblatt, H.M.3
  • 22
    • 9644295710 scopus 로고    scopus 로고
    • Cytokines and immunodeficiency diseases: Critical roles of the gamma(c)-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways
    • Kovanen PE, Leonard WJ. Cytokines and immunodeficiency diseases: Critical roles of the gamma(c)-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
  • 23
    • 67649876115 scopus 로고    scopus 로고
    • New insights into the regulation of T cells by gamma(c) family cytokines
    • Rochman Y, Spolski R, Leonard WJ. New insights into the regulation of T cells by gamma(c) family cytokines. Nat Rev Immunol. 2009;9(7): 480-490.
    • (2009) Nat Rev Immunol. , vol.9 , Issue.7 , pp. 480-490
    • Rochman, Y.1    Spolski, R.2    Leonard, W.J.3
  • 24
    • 52649102919 scopus 로고    scopus 로고
    • Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome
    • Wada T, Yasui M, Toma T, etal. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood. 2008;112(5):1872-1875.
    • (2008) Blood. , vol.112 , Issue.5 , pp. 1872-1875
    • Wada, T.1    Yasui, M.2    Toma, T.3
  • 25
    • 79551475421 scopus 로고    scopus 로고
    • Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency
    • Slatter MA, Angus B, Windebank K, etal. Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency. J Allergy Clin Immunol. 2011;127(2):533-535.
    • (2011) J Allergy Clin Immunol. , vol.127 , Issue.2 , pp. 533-535
    • Slatter, M.A.1    Angus, B.2    Windebank, K.3
  • 26
    • 57849092163 scopus 로고    scopus 로고
    • Short stature in partially corrected X-linked severe combined immunodeficiency-suboptimal response to growth hormone
    • De Ravin SS, Shum E, Zarember KA, etal. Short stature in partially corrected X-linked severe combined immunodeficiency-suboptimal response to growth hormone. J Pediatr Endocrinol Metab. 2008;21(11): 1057-1063.
    • (2008) J Pediatr Endocrinol Metab , vol.21 , Issue.11 , pp. 1057-1063
    • de Ravin, S.S.1    Shum, E.2    Zarember, K.A.3
  • 27
    • 0031440585 scopus 로고    scopus 로고
    • Advances in the understanding of cytokine signal transduction: The role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency
    • O'Shea JJ, Notarangelo LD, Johnston JA, Candotti F. Advances in the understanding of cytokine signal transduction: The role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. J Clin Immunol. 1997;17(6):431-447.
    • (1997) J Clin Immunol. , vol.17 , Issue.6 , pp. 431-447
    • O'Shea, J.J.1    Notarangelo, L.D.2    Johnston, J.A.3    Candotti, F.4
  • 28
    • 0031740732 scopus 로고    scopus 로고
    • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
    • Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20(4):394-397.
    • (1998) Nat Genet. , vol.20 , Issue.4 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3    Leonard, W.J.4
  • 29
    • 0034667634 scopus 로고    scopus 로고
    • A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency
    • Roifman CM, Zhang J, Chitayat D, Sharfe N. A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood. 2000;96(8): 2803-2807.
    • (2000) Blood. , vol.96 , Issue.8 , pp. 2803-2807
    • Roifman, C.M.1    Zhang, J.2    Chitayat, D.3    Sharfe, N.4
  • 30
    • 57149136599 scopus 로고    scopus 로고
    • Omenn syndrome: Inflammation in leaky severe combined immunodeficiency
    • Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: Inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008;122(6):1082-1086.
    • (2008) J Allergy Clin Immunol. , vol.122 , Issue.6 , pp. 1082-1086
    • Villa, A.1    Notarangelo, L.D.2    Roifman, C.M.3
  • 31
    • 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 LR, Roadcap DW, Paris K, etal. 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(11): 1307-1315.
    • (2008) Nat Immunol. , vol.9 , Issue.11 , pp. 1307-1315
    • Shiow, L.R.1    Roadcap, D.W.2    Paris, K.3
  • 32
    • 0034064779 scopus 로고    scopus 로고
    • Mutations in the tyrosine phosphatase CD45gene in a child with severe combined immunodeficiency disease
    • Kung C, Pingel JT, Heikinheimo M, etal. Mutations in the tyrosine phosphatase CD45gene in a child with severe combined immunodeficiency disease. Nat Med. 2000;6(3):343-345.
    • (2000) Nat Med. , vol.6 , Issue.3 , pp. 343-345
    • Kung, C.1    Pingel, J.T.2    Heikinheimo, M.3
  • 33
    • 33846897659 scopus 로고    scopus 로고
    • Differential biological role of CD3 chains revealed by human immunodeficiencies
    • Recio MJ, Moreno-Pelayo MA, Kiliç SS, etal. Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol. 2007;178(4):2556-2564.
    • (2007) J Immunol. , vol.178 , Issue.4 , pp. 2556-2564
    • Recio, M.J.1    Moreno-Pelayo, M.A.2    Kiliç, S.S.3
  • 34
    • 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 JL, Lauritsen JP, Cooney M, etal. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex. Blood. 2007;109(8): 3198-3206.
    • (2007) Blood. , vol.109 , Issue.8 , pp. 3198-3206
    • Roberts, J.L.1    Lauritsen, J.P.2    Cooney, M.3
  • 35
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD3 delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency
    • Dadi HK, Simon AJ, Roifman CM. Effect of CD3 delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. 2003;349(19):1821-1828.
    • (2003) N Engl J Med. , vol.349 , Issue.19 , pp. 1821-1828
    • Dadi, H.K.1    Simon, A.J.2    Roifman, C.M.3
  • 36
    • 67651071559 scopus 로고    scopus 로고
    • Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: Possible implications for the pathophysiology of Omenn syndrome
    • Poliani PL, Facchetti F, Ravanini M, etal. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: Possible implications for the pathophysiology of Omenn syndrome. Blood. 2009;114(1):105-108.
    • (2009) Blood. , vol.114 , Issue.1 , pp. 105-108
    • Poliani, P.L.1    Facchetti, F.2    Ravanini, M.3
  • 37
    • 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 LR, Verkaik NS, etal. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest. 2006;116(1):137-145.
    • (2006) J Clin Invest. , vol.116 , Issue.1 , pp. 137-145
    • van der Burg, M.1    van Veelen, L.R.2    Verkaik, N.S.3
  • 38
    • 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, etal. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224-235.
    • (2006) Eur J Immunol. , vol.36 , Issue.1 , pp. 224-235
    • Buck, D.1    Moshous, D.2    de Chasseval, R.3
  • 39
    • 57149133526 scopus 로고    scopus 로고
    • Omenn syndrome is associated with mutations in DNA ligase IV
    • Omenn syndrome is associated with mutations in DNA ligase IV. Grunebaum E, Bates A, Roifman CM. J Allergy Clin Immunol. 2008;122(6):1219-1220.
    • (2008) J Allergy Clin Immunol. , vol.122 , Issue.6 , pp. 1219-1220
    • Grunebaum, E.1    Bates, A.2    Roifman, C.M.3
  • 40
    • 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, etal. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006;124(2):287-299.
    • (2006) Cell. , vol.124 , Issue.2 , pp. 287-299
    • Buck, D.1    Malivert, L.2    de Chasseval, R.3
  • 41
    • 31044432090 scopus 로고    scopus 로고
    • XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining
    • Ahnesorg P, Smith P, Jackson SP. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell. 2006;124(2):301-313.
    • (2006) Cell. , vol.124 , Issue.2 , pp. 301-313
    • Ahnesorg, P.1    Smith, P.2    Jackson, S.P.3
  • 42
    • 0027770892 scopus 로고
    • T lymphocyte signalling defects and immunodeficiency due to the lack of CD3gamma
    • Arnaiz-Villena A, Timon M, Rodriguez-Gallego C, etal. T lymphocyte signalling defects and immunodeficiency due to the lack of CD3gamma. Immunodeficiency. 1993;4(1-4):121-129.
    • (1993) Immunodeficiency. , vol.4 , Issue.1-4 , pp. 121-129
    • Arnaiz-Villena, A.1    Timon, M.2    Rodriguez-Gallego, C.3
  • 43
    • 0018609884 scopus 로고
    • Failure of lymphocyte-membrane HLA-A and-B expression in two siblings with combined immunodeficiency
    • Schuurman RK, van Rood JJ, Vossen JM, etal. Failure of lymphocyte-membrane HLA-A and-B expression in two siblings with combined immunodeficiency. Clin Immunol Immunopathol. 1979;14(4): 418-434.
    • (1979) Clin Immunol Immunopathol. , vol.14 , Issue.4 , pp. 418-434
    • Schuurman, R.K.1    van Rood, J.J.2    Vossen, J.M.3
  • 44
    • 0033530372 scopus 로고    scopus 로고
    • Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules
    • Moins-Teisserenc HT, Gadola SD, Cella M, etal. Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. Lancet. 1999;354(9190): 1598-1603.
    • (1999) Lancet. , vol.354 , Issue.9190 , pp. 1598-1603
    • Moins-Teisserenc, H.T.1    Gadola, S.D.2    Cella, M.3
  • 45
    • 0033105718 scopus 로고    scopus 로고
    • Splice acceptor site mutation of the transporter associated with antigen processing-1gene in human bare lymphocyte syndrome
    • Furukawa H, Murata S, Yabe T, etal. Splice acceptor site mutation of the transporter associated with antigen processing-1gene in human bare lymphocyte syndrome. J Clin Invest. 1999;103(5):755-758.
    • (1999) J Clin Invest. , vol.103 , Issue.5 , pp. 755-758
    • Furukawa, H.1    Murata, S.2    Yabe, T.3
  • 46
    • 0034932953 scopus 로고    scopus 로고
    • Familial CD8 deficiency due to a mutation in the CD8 alpha gene
    • de la Calle-Martin O, Hernandez M, Ordi J, etal. Familial CD8 deficiency due to a mutation in the CD8 alpha gene. J Clin Invest. 2001;108(1):117-123.
    • (2001) J Clin Invest. , vol.108 , Issue.1 , pp. 117-123
    • de la Calle-Martin, O.1    Hernandez, M.2    Ordi, J.3
  • 47
    • 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, etal. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998;20(3):273-277.
    • (1998) Nat Genet. , vol.20 , Issue.3 , pp. 273-277
    • Masternak, K.1    Barras, E.2    Zufferey, M.3
  • 48
    • 0035424169 scopus 로고    scopus 로고
    • Mutation in the class II trans-activator leading to a mild immunodeficiency
    • Wiszniewski W, Fondaneche MC, Le Deist F, etal. Mutation in the class II trans-activator leading to a mild immunodeficiency. J Immunol. 2001;167(3):1787-1794.
    • (2001) J Immunol. , vol.167 , Issue.3 , pp. 1787-1794
    • Wiszniewski, W.1    Fondaneche, M.C.2    Le Deist, F.3
  • 49
    • 0030903027 scopus 로고    scopus 로고
    • Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor
    • Sharfe N, Dadi HK, Shahar M, Roifman CM. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc Natl Acad Sci U S A. 1997;94(7):3168-3171.
    • (1997) Proc Natl Acad Sci U S A. , vol.94 , Issue.7 , pp. 3168-3171
    • Sharfe, N.1    Dadi, H.K.2    Shahar, M.3    Roifman, C.M.4
  • 50
    • 0036961493 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: A model of immune dysregulation
    • Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: A model of immune dysregulation. Curr Opin Allergy Clin Immunol. 2002;2(6):481-487.
    • (2002) Curr Opin Allergy Clin Immunol. , vol.2 , Issue.6 , pp. 481-487
    • Torgerson, T.R.1    Ochs, H.D.2
  • 51
    • 0032527136 scopus 로고    scopus 로고
    • Defective expression of p56lck in an infant with severe combined immunodeficiency
    • Goldman FD, Ballas ZK, Schutte BC, etal. Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest. 1998;102(2):421-429.
    • (1998) J Clin Invest. , vol.102 , Issue.2 , pp. 421-429
    • Goldman, F.D.1    Ballas, Z.K.2    Schutte, B.C.3
  • 52
    • 0024317079 scopus 로고
    • Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency
    • Roifman CM, Hummel D, Martinez-Valdez H, etal. Depletion of CD8+ cells in human thymic medulla results in selective immune deficiency. J Exp Med. 1989;170(6):2177-2182.
    • (1989) J Exp Med. , vol.170 , Issue.6 , pp. 2177-2182
    • Roifman, C.M.1    Hummel, D.2    Martinez-Valdez, H.3
  • 53
    • 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 CM. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Cell. 1994;76(5):947-958.
    • (1994) Cell. , vol.76 , Issue.5 , pp. 947-958
    • Arpaia, E.1    Shahar, M.2    Dadi, H.3    Cohen, A.4    Roifman, C.M.5
  • 54
    • 33646576875 scopus 로고    scopus 로고
    • A mutation in OraI1 causes immune deficiency by abrogating CRAC channel function
    • Feske S, Gwack Y, Prakriya M, etal. A mutation in OraI1 causes immune deficiency by abrogating CRAC channel function. Nature. 2006;441(7090):179-185.
    • (2006) Nature. , vol.441 , Issue.7090 , pp. 179-185
    • Feske, S.1    Gwack, Y.2    Prakriya, M.3
  • 55
    • 65649088588 scopus 로고    scopus 로고
    • STIM1mutation associated with a syndrome of immunodeficiency and autoimmunity
    • Picard C, McCarl CA, Papolos A, etal. STIM1mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med. 2009;360(19):1971-1980.
    • (2009) N Engl J Med. , vol.360 , Issue.19 , pp. 1971-1980
    • Picard, C.1    McCarl, C.A.2    Papolos, A.3
  • 56
    • 0141567775 scopus 로고    scopus 로고
    • Growth hormone insensitivity associated with a STAT5b mutation
    • Kofoed EM, Hwa V, Little B, etal. Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med. 2003;349(12): 1139-1147.
    • (2003) N Engl J Med. , vol.349 , Issue.12 , pp. 1139-1147
    • Kofoed, E.M.1    Hwa, V.2    Little, B.3
  • 57
    • 0033535507 scopus 로고    scopus 로고
    • Exposing the human nude phenotype
    • Frank J, Pignata C, Panteleyev AA, etal. Exposing the human nude phenotype. Nature. 1999;398(6727):473-474.
    • (1999) Nature. , vol.398 , Issue.6727 , pp. 473-474
    • Frank, J.1    Pignata, C.2    Panteleyev, A.A.3
  • 58
    • 40749125759 scopus 로고    scopus 로고
    • FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
    • Amorosi S, D'Armiento M, Calcagno G, etal. FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet. 2008;73(4):380-384.
    • (2008) Clin Genet. , vol.73 , Issue.4 , pp. 380-384
    • Amorosi, S.1    D'Armiento, M.2    Calcagno, G.3
  • 59
    • 0025785602 scopus 로고
    • Purine nucleoside phosphorylase deficiency
    • Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3(1):45-81.
    • (1991) Immunodefic Rev. , vol.3 , Issue.1 , pp. 45-81
    • Markert, M.L.1
  • 60
    • 0034956862 scopus 로고    scopus 로고
    • Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
    • Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001;59(6):430-437.
    • (2001) Clin Genet. , vol.59 , Issue.6 , pp. 430-437
    • Dalal, I.1    Grunebaum, E.2    Cohen, A.3    Roifman, C.M.4
  • 61
    • 0027414691 scopus 로고
    • CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
    • Allen RC, Armitage RJ, Conley ME, etal. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science. 1993;259(5097):990-993.
    • (1993) Science. , vol.259 , Issue.5097 , pp. 990-993
    • Allen, R.C.1    Armitage, R.J.2    Conley, M.E.3
  • 62
    • 78650664671 scopus 로고    scopus 로고
    • Different molecular behavior of CD40 mutants causing hyper-IgM syndrome
    • Lanzi G, Ferrari S, Vihinen M, etal. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010;116(26): 5867-5874.
    • (2010) Blood. , vol.116 , Issue.26 , pp. 5867-5874
    • Lanzi, G.1    Ferrari, S.2    Vihinen, M.3
  • 63
    • 0035940417 scopus 로고    scopus 로고
    • Mutations of CD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM
    • Ferrari S, Giliani S, Insalaco A, etal. Mutations of CD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98(22):12614-12619.
    • (2001) Proc Natl Acad Sci U S A. , vol.98 , Issue.22 , pp. 12614-12619
    • Ferrari, S.1    Giliani, S.2    Insalaco, A.3
  • 64
    • 49149113472 scopus 로고    scopus 로고
    • The TEC kinases Itk and Rlk regulate NKT cell maturation, cytokine production, and survival
    • Felices M, Berg LJ. The TEC kinases Itk and Rlk regulate NKT cell maturation, cytokine production, and survival. J Immunol. 2008;180(5): 3007-3018.
    • (2008) J Immunol. , vol.180 , Issue.5 , pp. 3007-3018
    • Felices, M.1    Berg, L.J.2
  • 65
    • 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, Feyen O, Niehues T, etal. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest. 2009;119(5): 1350-1358.
    • (2009) J Clin Invest. , vol.119 , Issue.5 , pp. 1350-1358
    • Huck, K.1    Feyen, O.2    Niehues, T.3
  • 66
    • 70949098060 scopus 로고    scopus 로고
    • Combined immunodeficiency associated with DOCK8 mutations
    • Zhang Q, Davis JC, Lamborn IT, etal. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21): 2046-2055.
    • (2009) N Engl J Med. , vol.361 , Issue.21 , pp. 2046-2055
    • Zhang, Q.1    Davis, J.C.2    Lamborn, I.T.3
  • 67
    • 77951621300 scopus 로고    scopus 로고
    • DiGeorge syndrome and chromosome 22q11.2 deletion syndrome
    • 5th ed. Ochs HD, Stiehm ER, Winkelstein JA, editors. Philadelphia, PA: Elsevier
    • Sullivan KE. DiGeorge syndrome and chromosome 22q11.2 deletion syndrome. In: Immunologic Disorders in Infants and Children, 5th ed. Ochs HD, Stiehm ER, Winkelstein JA, editors. Philadelphia, PA: Elsevier; 2004:523.
    • (2004) Immunologic Disorders in Infants and Children , pp. 523
    • Sullivan, K.E.1
  • 68
    • 33646075180 scopus 로고    scopus 로고
    • Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
    • Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol. 2006;117(4):897-903.
    • (2006) J Allergy Clin Immunol. , vol.117 , Issue.4 , pp. 897-903
    • Roifman, C.M.1    Gu, Y.2    Cohen, A.3
  • 69
    • 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 AK, etal. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol. 2009;133(3):287-294.
    • (2009) Clin Immunol. , vol.133 , Issue.3 , pp. 287-294
    • Borzutzky, A.1    Crompton, B.2    Bergmann, A.K.3
  • 70
    • 84856420736 scopus 로고    scopus 로고
    • Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita
    • Touzot F, Gaillard L, Vasquez N, etal. Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. J Allergy Clin Immunol. 2012;129(2):473-482.
    • (2012) J Allergy Clin Immunol. , vol.129 , Issue.2 , pp. 473-482
    • Touzot, F.1    Gaillard, L.2    Vasquez, N.3
  • 71
    • 0028807727 scopus 로고
    • T lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years
    • Blaese RM, Culver KW, Miller AD, etal. T lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years. Science. 1995;270(5235):475-480.
    • (1995) Science. , vol.270 , Issue.5235 , pp. 475-480
    • Blaese, R.M.1    Culver, K.W.2    Miller, A.D.3
  • 72
    • 78449233751 scopus 로고    scopus 로고
    • Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency
    • Ferrua F, Brigida I, Aiuti A. Update on gene therapy for adenosine deaminase-deficient severe combined immunodeficiency. Curr Opin Allergy Clin Immunol. 2010;10(6):551-556.
    • (2010) Curr Opin Allergy Clin Immunol. , vol.10 , Issue.6 , pp. 551-556
    • Ferrua, F.1    Brigida, I.2    Aiuti, A.3
  • 74
    • 77954833516 scopus 로고    scopus 로고
    • Efficacy of gene therapy for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina S, Hauer J, Lim A, etal. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2010;363(4):355-364.
    • (2010) N Engl J Med. , vol.363 , Issue.4 , pp. 355-364
    • Hacein-Bey-Abina, S.1    Hauer, J.2    Lim, A.3
  • 75
    • 77956502744 scopus 로고    scopus 로고
    • A self-inactivating lentiviral vector for SCID-X1gene therapy that does not activate LMO2 expression in human T cells
    • Zhou S, Mody D, Deravin SS, etal. A self-inactivating lentiviral vector for SCID-X1gene therapy that does not activate LMO2 expression in human T cells. Blood. 2010;116(6):900-908.
    • (2010) Blood. , vol.116 , Issue.6 , pp. 900-908
    • Zhou, S.1    Mody, D.2    Deravin, S.S.3
  • 76
    • 65249101260 scopus 로고    scopus 로고
    • The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy
    • Montini E, Cesana D, Schmidt M, etal. The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy. J Clin Invest. 2009;119:964-975.
    • (2009) J Clin Invest. , vol.119 , pp. 964-975
    • Montini, E.1    Cesana, D.2    Schmidt, M.3
  • 77
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • Cartier N, Hacein-Bey-Abina S, Bartholomae CC, etal. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science. 2009;326:818-823.
    • (2009) Science. , vol.326 , pp. 818-823
    • Cartier, N.1    Hacein-Bey-Abina, S.2    Bartholomae, C.C.3
  • 78
    • 46949095221 scopus 로고    scopus 로고
    • Establishment of HIV-1 resistance in CD4+ T cells by genome editing using zinc-finger nucleases
    • Perez EE, Wang J, Miller JC, etal. Establishment of HIV-1 resistance in CD4+ T cells by genome editing using zinc-finger nucleases. Nat Biotechnol. 2008;26:808-816.
    • (2008) Nat Biotechnol. , vol.26 , pp. 808-816
    • Perez, E.E.1    Wang, J.2    Miller, J.C.3
  • 79
    • 79951694132 scopus 로고    scopus 로고
    • Meganucleases and other tools for targeted genome engineering: Perspectives and challenges for gene therapy
    • Silva G, Poirot L, Galetto R, etal. Meganucleases and other tools for targeted genome engineering: Perspectives and challenges for gene therapy. Curr Gene Ther. 2011;11(1):11-27.
    • (2011) Curr Gene Ther. , vol.11 , Issue.1 , pp. 11-27
    • Silva, G.1    Poirot, L.2    Galetto, R.3
  • 80
    • 46249103136 scopus 로고    scopus 로고
    • Unravelling the association of partial T-cell immunodeficiency and immune dysregulation
    • Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol. 2008;8:546.
    • (2008) Nat Rev Immunol. , vol.8 , pp. 546
    • Liston, A.1    Enders, A.2    Siggs, O.M.3


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