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Volumn 5, Issue 11, 2005, Pages 880-892

Molecular defects in T- and B-cell primary immunodeficiency diseases

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; CORTICOSTEROID; CYCLOSPORIN A; IMMUNOGLOBULIN; MACROGOL; RETROVIRUS VECTOR; SULFAMETHOXAZOLE; TACROLIMUS; TRIMETHOPRIM;

EID: 27744447066     PISSN: 14741733     EISSN: None     Source Type: Journal    
DOI: 10.1038/nri1713     Document Type: Review
Times cited : (119)

References (117)
  • 1
    • 4444379717 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update
    • Notarangelo, L. et al. Primary immunodeficiency diseases: an update. J. Allergy Clin. Immunol. 114, 677-687 (2004). This is an updated summary and classification scheme of primary immunodeficiency diseases that is based on the most recent consensus of the Primary Immunodeficiency Disease Classification Committee of the International Union of Immunological Societies.
    • (2004) J. Allergy Clin. Immunol. , vol.114 , pp. 677-687
    • Notarangelo, L.1
  • 3
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD36 deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency
    • Dadi, H. K., Simon, A. J. & Roifman, C. M. Effect of CD36 deficiency on maturation of α/β and γ/δ 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
  • 4
    • 14544288042 scopus 로고    scopus 로고
    • Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3
    • de Saint Basile, G. et al. Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3. J. Clin. Invest. 114, 1512-1517 (2004).
    • (2004) J. Clin. Invest. , vol.114 , pp. 1512-1517
    • De Saint Basile, G.1
  • 5
    • 0027403374 scopus 로고
    • Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi, M. et al. Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73, 147-157 (1993).
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1
  • 6
    • 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. Nature Med. 6, 343-345 (2000).
    • (2000) Nature Med. , vol.6 , pp. 343-345
    • Kung, C.1
  • 7
    • 0028857954 scopus 로고
    • Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development
    • Russell, S. M. et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270, 797-800 (1995).
    • (1995) Science , vol.270 , pp. 797-800
    • Russell, S.M.1
  • 8
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
    • Moshous, D. et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105, 177-186 (2001).
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1
  • 9
    • 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
  • 10
    • 0015515283 scopus 로고
    • Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity
    • Giblett, E., Anderson, J., Cohen, F., Pollara, B. & Meuwissen, H. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 2, 1067-1069 (1972).
    • (1972) Lancet , vol.2 , pp. 1067-1069
    • Giblett, E.1    Anderson, J.2    Cohen, F.3    Pollara, B.4    Meuwissen, H.5
  • 11
    • 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). This paper reviews SCID and the outcomes of bone-marrow transplantation of 132 patients over two decades.
    • (2004) Annu. Rev. Immunol. , vol.22 , pp. 625-655
    • Buckley, R.H.1
  • 12
    • 0034604048 scopus 로고    scopus 로고
    • Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
    • Patel, D. D. et al. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 342, 1325-1332 (2000).
    • (2000) N. Engl. J. Med. , vol.342 , pp. 1325-1332
    • Patel, D.D.1
  • 13
    • 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
  • 14
    • 1242264767 scopus 로고    scopus 로고
    • Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders
    • Lindegren, M. L. et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm. Rep. 53, 1-29 (2004).
    • (2004) MMWR Recomm. Rep. , vol.53 , pp. 1-29
    • Lindegren, M.L.1
  • 15
    • 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). This paper describes the novel approach of measuring the number of TRECs in DNA isolated from dried blood spots to screen infants for SCID.
    • (2005) J. Allergy Clin. Immunol. , vol.115 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 16
    • 10744223651 scopus 로고    scopus 로고
    • Role of TBX1 in human del22q11.2 syndrome
    • Yagi, H. et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 362, 1366-1373 (2003).
    • (2003) Lancet , vol.362 , pp. 1366-1373
    • Yagi, H.1
  • 17
    • 17344369067 scopus 로고    scopus 로고
    • Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
    • Stoller, J. Z. & Epstein, J. A. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum. Mol. Genet. 14, 885-892 (2005).
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 885-892
    • Stoller, J.Z.1    Epstein, J.A.2
  • 18
    • 0026729150 scopus 로고
    • Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor
    • Arnaiz-Villena, A. et al. Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor. N. Engl. J. Med. 327, 529-533 (1992).
    • (1992) N. Engl. J. Med. , vol.327 , pp. 529-533
    • Arnaiz-Villena, A.1
  • 19
    • 0027509235 scopus 로고
    • Independent mutations of the human CD3-ε 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-ε gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nature Genet. 3, 77-81 (1993).
    • (1993) Nature 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
  • 20
    • 0033104718 scopus 로고    scopus 로고
    • HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1
    • de la Salle, H. et al. HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. J. Clin. Invest. 103, R9-R13 (1999).
    • (1999) J. Clin. Invest. , vol.103
    • De La Salle, H.1
  • 21
    • 0029591999 scopus 로고
    • Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis
    • Donato, L. et al. Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis. J. Pediatr. 127, 895-900 (1995).
    • (1995) J. Pediatr. , vol.127 , pp. 895-900
    • Donato, L.1
  • 23
    • 0032527136 scopus 로고    scopus 로고
    • lck in an infant with severe combined immunodeficiency
    • lck in an infant with severe combined immunodeficiency. J. Clin. Invest. 102, 421-429 (1998).
    • (1998) J. Clin. Invest. , vol.102 , pp. 421-429
    • Goldman, F.D.1
  • 25
    • 0034932953 scopus 로고    scopus 로고
    • Familial CD8 deficiency due to a mutation in the CD8α gene
    • de la Galle-Martin, O. et al. Familial CD8 deficiency due to a mutation in the CD8α gene. J. Clin. Invest. 108, 117-123 (2001).
    • (2001) J. Clin. Invest. , vol.108 , pp. 117-123
    • De La Galle-Martin, O.1
  • 26
    • 0142166699 scopus 로고    scopus 로고
    • The SAP and SLAM families in immune responses and X-linked lymphoproliterative disease
    • Engel, P., Eck, M. J. & Terhorst, C. The SAP and SLAM families in immune responses and X-linked lymphoproliterative disease. Nature Rev. Immunol. 3, 813-821 (2003).
    • (2003) Nature Rev. Immunol. , vol.3 , pp. 813-821
    • Engel, P.1    Eck, M.J.2    Terhorst, C.3
  • 27
    • 13144261691 scopus 로고    scopus 로고
    • FOXP3 acts as a rheostat of the immune response
    • Ochs, H. D., Ziegler, S. F. & Torgerson, T. R. FOXP3 acts as a rheostat of the immune response. Immunol. Rev. 203, 156-164 (2005).
    • (2005) Immunol. Rev. , vol.203 , pp. 156-164
    • Ochs, H.D.1    Ziegler, S.F.2    Torgerson, T.R.3
  • 28
    • 0038434099 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy enteropathy and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
    • Gambineri, E., Torgerson, T. R. & Ochs, H. D. Immune dysregulation, polyendocrinopathy enteropathy and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr. Opin. Rheumatol. 15, 430-435 (2003).
    • (2003) Curr. Opin. Rheumatol. , vol.15 , pp. 430-435
    • Gambineri, E.1    Torgerson, T.R.2    Ochs, H.D.3
  • 29
    • 0035167967 scopus 로고    scopus 로고
    • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    • Bennett, C. L. et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genet. 27, 20-21 (2001).
    • (2001) Nature Genet. , vol.27 , pp. 20-21
    • Bennett, C.L.1
  • 31
    • 0029055709 scopus 로고
    • Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy
    • Kobayashi, I., Nakanishi, M., Okano, M., Sakiyama, Y. & Matsumoto, S. Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy. Eur. J. Pediatr. 154, 594-595 (1995).
    • (1995) Eur. J. Pediatr. , vol.154 , pp. 594-595
    • Kobayashi, I.1    Nakanishi, M.2    Okano, M.3    Sakiyama, Y.4    Matsumoto, S.5
  • 32
    • 0035821985 scopus 로고    scopus 로고
    • Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
    • Baud, O. et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N. Engl. J. Med. 344, 1758-1762 (2001).
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1758-1762
    • Baud, O.1
  • 33
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome
    • Wildin, R. S., Smyk-Pearson, S. & Filipovich, A. H. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. J. Med. Genet. 39, 537-545 (2002).
    • (2002) J. Med. Genet. , vol.39 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.2    Filipovich, A.H.3
  • 34
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Aaltonen, J. et al. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genet. 17, 399-403 (1997).
    • (1997) Nature Genet. , vol.17 , pp. 399-403
    • Aaltonen, J.1
  • 36
    • 0942288397 scopus 로고    scopus 로고
    • Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes colocalized in chromosomal clusters
    • Gotter, J., Brors, B., Hergenhahn, M. & Kyewski, B. Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes colocalized in chromosomal clusters. J. Exp. Med. 199, 155-166 (2004). This study investigates the expression of self-proteins at the surface of human thymic epithelial cells, and the authors postulate a role for AIRE in regulating the expression of these self-proteins.
    • (2004) J. Exp. Med. , vol.199 , pp. 155-166
    • Gotter, J.1    Brors, B.2    Hergenhahn, M.3    Kyewski, B.4
  • 37
    • 2442582732 scopus 로고    scopus 로고
    • + T cell homeostatic expansion
    • + T cell homeostatic expansion. Nature Immunol. 5, 426-434 (2004).
    • (2004) Nature Immunol. , vol.5 , pp. 426-434
    • Watanabe, N.1
  • 38
    • 1642500086 scopus 로고    scopus 로고
    • AIRE functions as an E3 ubiquitin ligase
    • Uchida, D. et al. AIRE functions as an E3 ubiquitin ligase. J. Exp. Med. 199, 167-172 (2004).
    • (2004) J. Exp. Med. , vol.199 , pp. 167-172
    • Uchida, D.1
  • 39
    • 0030583369 scopus 로고    scopus 로고
    • Clinical, immunological, and pathological consequences of Fas-deficient conditions
    • Le Deist, F. et al. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348, 719-723 (1996).
    • (1996) Lancet , vol.348 , pp. 719-723
    • Le Deist, F.1
  • 41
    • 0029006893 scopus 로고
    • Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
    • Rieux-Laucat, F. et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347-1349 (1995).
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1
  • 42
    • 0032931219 scopus 로고    scopus 로고
    • The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations
    • Vaishnaw, A. K. et al. The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J. Clin. Invest. 103, 355-363 (1999).
    • (1999) J. Clin. Invest. , vol.103 , pp. 355-363
    • Vaishnaw, A.K.1
  • 43
    • 18544383460 scopus 로고    scopus 로고
    • Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
    • Chun, H. J. et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419, 395-399 (2002).
    • (2002) Nature , vol.419 , pp. 395-399
    • Chun, H.J.1
  • 45
    • 0029737324 scopus 로고    scopus 로고
    • Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
    • Wu, J. et al. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J. Clin. Invest. 98, 1107-1113 (1996).
    • (1996) J. Clin. Invest. , vol.98 , pp. 1107-1113
    • Wu, J.1
  • 46
    • 0034657370 scopus 로고    scopus 로고
    • Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer
    • Ramenghi, U. et al. Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer. Blood 95, 3176-3182 (2000).
    • (2000) Blood , vol.95 , pp. 3176-3182
    • Ramenghi, U.1
  • 47
    • 4644240701 scopus 로고    scopus 로고
    • Autoimmune lymphoproliterative syndrome with somatic Fas mutations
    • Holzelova, E. et al. Autoimmune lymphoproliterative syndrome with somatic Fas mutations. N. Engl. J. Med. 351, 1409-1418 (2004).
    • (2004) N. Engl. J. Med. , vol.351 , pp. 1409-1418
    • Holzelova, E.1
  • 48
    • 0037375721 scopus 로고    scopus 로고
    • Class-switch recombination: After the dawn of AID
    • Kenter, A. L. Class-switch recombination: after the dawn of AID. Curr. Opin. Immunol. 15, 190-198 (2003).
    • (2003) Curr. Opin. Immunol. , vol.15 , pp. 190-198
    • Kenter, A.L.1
  • 49
    • 0036234455 scopus 로고    scopus 로고
    • Somatic hypermutation of immunoglobulin genes: Merging mechanisms for genetic diversity
    • Papavasiliou, F. N. & Schatz, D. G. Somatic hypermutation of immunoglobulin genes: merging mechanisms for genetic diversity. Cell 109, S35-S44 (2002).
    • (2002) Cell , vol.109
    • Papavasiliou, F.N.1    Schatz, D.G.2
  • 50
    • 0027394391 scopus 로고
    • The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
    • Aruffo, A. et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 72, 291-300 (1993).
    • (1993) Cell , vol.72 , pp. 291-300
    • Aruffo, A.1
  • 51
    • 0034264851 scopus 로고    scopus 로고
    • Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
    • Revy, P. et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 102, 565-575 (2000).
    • (2000) Cell , vol.102 , pp. 565-575
    • Revy, P.1
  • 52
    • 0142092610 scopus 로고    scopus 로고
    • Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
    • Imai, K. et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nature Immunol. 4, 1023-1028 (2003).
    • (2003) Nature Immunol. , vol.4 , pp. 1023-1028
    • Imai, K.1
  • 53
    • 0035940417 scopus 로고    scopus 로고
    • Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
    • Ferrari, S. et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl Acad. Sci. USA 98, 12614-12619 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 12614-12619
    • Ferrari, S.1
  • 54
    • 0037329301 scopus 로고    scopus 로고
    • Disseminated Cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency
    • Kutukculer, N. et al. Disseminated Cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J. Pediatr. 142, 194-196 (2003).
    • (2003) J. Pediatr. , vol.142 , pp. 194-196
    • Kutukculer, N.1
  • 55
    • 85047693702 scopus 로고    scopus 로고
    • Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination
    • Imai, K. et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J. Clin. Invest. 112, 136-142 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 136-142
    • Imai, K.1
  • 56
    • 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. Nature Genet. 27, 277-285 (2001).
    • (2001) Nature Genet. , vol.27 , pp. 277-285
    • Doffinger, R.1
  • 57
    • 0035286726 scopus 로고    scopus 로고
    • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
    • Jain, A. et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nature Immunol. 2, 223-228 (2001).
    • (2001) Nature Immunol. , vol.2 , pp. 223-228
    • Jain, A.1
  • 58
    • 1942500166 scopus 로고    scopus 로고
    • The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutation
    • Orange, J. S. et al. The presentation and natural history of immunodeficiency caused by nuclear factor κB essential modulator mutation. J. Allergy Clin. Immunol. 113, 725-733 (2004).
    • (2004) J. Allergy Clin. Immunol. , vol.113 , pp. 725-733
    • Orange, J.S.1
  • 59
    • 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
  • 60
    • 0033669973 scopus 로고    scopus 로고
    • Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome
    • Minegishi, Y. et al. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. Clin. Immunol. 97, 203-210 (2000).
    • (2000) Clin. Immunol. , vol.97 , pp. 203-210
    • Minegishi, Y.1
  • 61
    • 0042931069 scopus 로고    scopus 로고
    • The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch μ region
    • Catalan, N. et al. The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch μ region. J. Immunol. 171, 2504-2509 (2003).
    • (2003) J. Immunol. , vol.171 , pp. 2504-2509
    • Catalan, N.1
  • 62
    • 4344700569 scopus 로고    scopus 로고
    • Replication protein a interacts with AID to promote deamination of somatic hypermutation targets
    • Chaudhuri, J., Khuong, C. & Alt, F. W. Replication protein A interacts with AID to promote deamination of somatic hypermutation targets. Nature 430, 992-998 (2004).
    • (2004) Nature , vol.430 , pp. 992-998
    • Chaudhuri, J.1    Khuong, C.2    Alt, F.W.3
  • 63
    • 4644292965 scopus 로고    scopus 로고
    • The hyper IgM syndrome - An evolving story
    • Etzioni, A. & Ochs, H. D. The hyper IgM syndrome - an evolving story. Pediatr. Res. 56, 1-7 (2004).
    • (2004) Pediatr. Res. , vol.56 , pp. 1-7
    • Etzioni, A.1    Ochs, H.D.2
  • 66
    • 3142724031 scopus 로고    scopus 로고
    • Toll-like receptor signalling
    • Akira, S. & Takeda, K. Toll-like receptor signalling. Nature Rev. Immunol. 4, 499-511 (2004).
    • (2004) Nature Rev. Immunol. , vol.4 , pp. 499-511
    • Akira, S.1    Takeda, K.2
  • 67
    • 0043281537 scopus 로고    scopus 로고
    • Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections
    • Medvedev, A. E. et al. Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections. J. Exp. Med. 198, 521-531 (2003).
    • (2003) J. Exp. Med. , vol.198 , pp. 521-531
    • Medvedev, A.E.1
  • 68
    • 0037471003 scopus 로고    scopus 로고
    • Pyogenic bacterial infections in humans with IRAK-4 deficiency
    • Picard, C. et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299, 2076-2079 (2003). This report describes three children with a defect in TLR signalling and their susceptibility to infection.
    • (2003) Science , vol.299 , pp. 2076-2079
    • Picard, C.1
  • 69
    • 2342457148 scopus 로고    scopus 로고
    • Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms
    • Saleh, M. et al. Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms. Nature 429, 75-79 (2004). References 67-69 show the emerging role of defects in the innate immune system as an aetiology for primary immunodeficiency diseases.
    • (2004) Nature , vol.429 , pp. 75-79
    • Saleh, M.1
  • 70
    • 0034597508 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases due to defects in lymphocytes
    • Buckley, R. H. Primary immunodeficiency diseases due to defects in lymphocytes. N. Engl. J. Med. 343, 1313-1324 (2000).
    • (2000) N. Engl. J. Med. , vol.343 , pp. 1313-1324
    • Buckley, R.H.1
  • 71
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • Bruton, O. Agammaglobulinemia. Pediatrics 9, 722-728 (1952).
    • (1952) Pediatrics , vol.9 , pp. 722-728
    • Bruton, O.1
  • 72
    • 0027441332 scopus 로고
    • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
    • Vetrie, D. et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361, 226-233 (1993).
    • (1993) Nature , vol.361 , pp. 226-233
    • Vetrie, D.1
  • 73
    • 1342333895 scopus 로고    scopus 로고
    • Pulmonary complications of primary immunodeficiencies
    • Buckley, R. H. Pulmonary complications of primary immunodeficiencies. Paediatr. Respir. Rev. 5, S225-S233 (2004).
    • (2004) Paediatr. Respir. Rev. , vol.5
    • Buckley, R.H.1
  • 74
    • 0025743513 scopus 로고
    • Branchiectasis in hypogammaglobulinaemia - A computed tomography assessment
    • Curtin, J. J., Webster, A. D., Farrant, J. & Katz, D. Branchiectasis in hypogammaglobulinaemia - a computed tomography assessment. Clin. Radiol. 44, 82-84 (1991).
    • (1991) Clin. Radiol. , vol.44 , pp. 82-84
    • Curtin, J.J.1    Webster, A.D.2    Farrant, J.3    Katz, D.4
  • 75
    • 0023299209 scopus 로고
    • Chronic enteroviral meningoencephalitis in agammaglobulinemic patients
    • McKinney, R. E. Jr, Katz, S. L. & Wilfert, C. M. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev. Infect. Dis. 9, 334-356 (1987).
    • (1987) Rev. Infect. Dis. , vol.9 , pp. 334-356
    • McKinney Jr., R.E.1    Katz, S.L.2    Wilfert, C.M.3
  • 76
    • 0031594211 scopus 로고    scopus 로고
    • Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia
    • Minegishi, Y. et al. Mutations in the human λ5/14.1 gene result in B cell deficiency and agammaglobulinemia. J. Exp. Med. 187, 71-77 (1998).
    • (1998) J. Exp. Med. , vol.187 , pp. 71-77
    • Minegishi, Y.1
  • 77
    • 0032589471 scopus 로고    scopus 로고
    • Mutations in Igα (CD79a) result in a complete block in B-cell development
    • Minegishi, Y. et al. Mutations in Igα (CD79a) result in a complete block in B-cell development. J. Clin. Invest. 104, 1115-1121 (1999).
    • (1999) J. Clin. Invest. , vol.104 , pp. 1115-1121
    • Minegishi, Y.1
  • 78
    • 10344239867 scopus 로고    scopus 로고
    • Mutations in the μ heavy-chain gene in patients with agammaglobulinemia
    • Yel, L. et al. Mutations in the μ heavy-chain gene in patients with agammaglobulinemia. N. Engl. J. Med. 335, 1486-1493 (1996).
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1486-1493
    • Yel, L.1
  • 79
    • 0034823216 scopus 로고    scopus 로고
    • Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development
    • Meffre, E. et al. Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development. J. Clin. Invest. 108, 879-886 (2001).
    • (2001) J. Clin. Invest. , vol.108 , pp. 879-886
    • Meffre, E.1
  • 80
    • 0028151518 scopus 로고
    • Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells
    • Aoki, Y., Isselbacher, K. & Pillai, S. Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. Proc. Natl Acad. Sci USA 91, 10606-10609 (1994).
    • (1994) Proc. Natl. Acad. Sci USA , vol.91 , pp. 10606-10609
    • Aoki, Y.1    Isselbacher, K.2    Pillai, S.3
  • 81
    • 0030608960 scopus 로고    scopus 로고
    • 2+ mobilization by X-linked agammaglobulinaemia (XLA) B cells in response to ligation of the B cell receptor (BCR)
    • 2+ mobilization by X-linked agammaglobulinaemia (XLA) B cells in response to ligation of the B cell receptor (BCR). Clin. Exp. Immunol. 110, 386-391 (1997).
    • (1997) Clin. Exp. Immunol. , vol.110 , pp. 386-391
    • Genevier, H.C.1    Callard, R.E.2
  • 83
    • 0346969976 scopus 로고    scopus 로고
    • A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
    • Sawada, A. et al. A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. J. Clin. Invest. 112, 1707-1713 (2003).
    • (2003) J. Clin. Invest. , vol.112 , pp. 1707-1713
    • Sawada, A.1
  • 84
    • 0032879799 scopus 로고    scopus 로고
    • Primary Immunodeficiency Diseases. Report of an IUIS Scientific Committee
    • International Union of Immunological Societies
    • Primary Immunodeficiency Diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin. Exp. Immunol. 118, 1-28 (1999).
    • (1999) Clin. Exp. Immunol. , vol.118 , pp. 1-28
  • 85
    • 0036493366 scopus 로고    scopus 로고
    • -) in subgroups of patients with common variable immunodeficiency: A new approach to classify a heterogeneous disease
    • -) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99, 1544-1551 (2002).
    • (2002) Blood , vol.99 , pp. 1544-1551
    • Warnatz, K.1
  • 86
    • 0032976666 scopus 로고    scopus 로고
    • Common variable immunodeficiency: Clinical and immunological features of 248 patients
    • Cunningham-Rundles, C. & Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92, 34-48 (1999). This is the largest case study so far of patients with CVID.
    • (1999) Clin. Immunol. , vol.92 , pp. 34-48
    • Cunningham-Rundles, C.1    Bodian, C.2
  • 87
    • 0035469882 scopus 로고    scopus 로고
    • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome
    • Morra, M. et al. Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. Blood 98, 1321-1325 (2001).
    • (2001) Blood , vol.98 , pp. 1321-1325
    • Morra, M.1
  • 88
    • 0037340349 scopus 로고    scopus 로고
    • Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
    • Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nature Immunol. 4, 261-268 (2003).
    • (2003) Nature Immunol. , vol.4 , pp. 261-268
    • Grimbacher, B.1
  • 89
    • 7044224342 scopus 로고    scopus 로고
    • ICOS deficiency in patients with common variable immunodeficiency
    • Salzer, U. et al. ICOS deficiency in patients with common variable immunodeficiency. Clin. Immunol. 113, 234-240 (2004). References 88 and 89 report that a defect in ICOS is the cause of CVID in nine individuals.
    • (2004) Clin. Immunol. , vol.113 , pp. 234-240
    • Salzer, U.1
  • 90
    • 0031913668 scopus 로고    scopus 로고
    • IL-10 interrupts memory B cell expansion in the germinal center by inducing differentiation into plasma cells
    • Choe, J. & Choi, Y. S. IL-10 interrupts memory B cell expansion in the germinal center by inducing differentiation into plasma cells. Eur. J. Immunol. 28, 508-515 (1998).
    • (1998) Eur. J. Immunol. , vol.28 , pp. 508-515
    • Choe, J.1    Choi, Y.S.2
  • 91
    • 0242719792 scopus 로고    scopus 로고
    • Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis
    • Lee, W.-I. et al. Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis. J. Allergy Clin. Immunol. 112, 958-964 (2003).
    • (2003) J. Allergy Clin. Immunol. , vol.112 , pp. 958-964
    • Lee, W.-I.1
  • 92
    • 17344380531 scopus 로고    scopus 로고
    • TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease
    • Gross, J. A. et al. TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease. Nature 404, 995-999 (2000).
    • (2000) Nature , vol.404 , pp. 995-999
    • Gross, J.A.1
  • 93
    • 0035860466 scopus 로고    scopus 로고
    • BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF
    • Thompson, J. S. et al. BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF. Science 293, 2108-2111 (2001).
    • (2001) Science , vol.293 , pp. 2108-2111
    • Thompson, J.S.1
  • 94
    • 0034606225 scopus 로고    scopus 로고
    • A soluble form of B cell maturation antigen, a receptor for the tumor necrosis factor family member APRIL, inhibits tumor cell growth
    • Rennert, P. et al. A soluble form of B cell maturation antigen, a receptor for the tumor necrosis factor family member APRIL, inhibits tumor cell growth. J. Exp. Med. 192, 1677-1684 (2000).
    • (2000) J. Exp. Med. , vol.192 , pp. 1677-1684
    • Rennert, P.1
  • 95
    • 0036732753 scopus 로고    scopus 로고
    • DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL
    • Litinskiy, M. B. et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nature Immunol. 3, 822-829 (2002).
    • (2002) Nature Immunol. , vol.3 , pp. 822-829
    • Litinskiy, M.B.1
  • 96
    • 0034757950 scopus 로고    scopus 로고
    • Physiology of IgA and IgA deficiency
    • Cunningham-Rundles, C. Physiology of IgA and IgA deficiency. J. Clin. Immunol. 21, 303-309 (2001).
    • (2001) J. Clin. Immunol. , vol.21 , pp. 303-309
    • Cunningham-Rundles, C.1
  • 98
    • 0028800193 scopus 로고
    • Family and linkage study of selective IgA deficiency and common variable immunodeficiency
    • Vorechovsky, I. et al. Family and linkage study of selective IgA deficiency and common variable immunodeficiency. Clin. Immunol. Immunopathol. 77, 185-192 (1995).
    • (1995) Clin. Immunol. Immunopathol. , vol.77 , pp. 185-192
    • Vorechovsky, I.1
  • 99
    • 0342939570 scopus 로고    scopus 로고
    • Genetic linkage of IgA deficiency to the major histocompatibility complex: Evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition
    • Vorechovsky, I., Webster, A. D. B., Plebani, A. & Hammarstrom, L. Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. Am. J. Hum. Genet. 64, 1096-1109 (1999).
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1096-1109
    • Vorechovsky, I.1    Webster, A.D.B.2    Plebani, A.3    Hammarstrom, L.4
  • 100
    • 0344211525 scopus 로고    scopus 로고
    • Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency
    • Kralovicova, J., Hammarstrom, L., Plebani, A., Webster, A. D. B. & Vorechovsky, I. Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J. Immunol. 170, 2765-2775 (2003).
    • (2003) J. Immunol. , vol.170 , pp. 2765-2775
    • Kralovicova, J.1    Hammarstrom, L.2    Plebani, A.3    Webster, A.D.B.4    Vorechovsky, I.5
  • 101
    • 0029081965 scopus 로고
    • PEG-ADA replacement therapy for adenosine deaminase deficiency: An update after 8.5 years
    • Hershfield, M. S. PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin. Immunol. Immunopathol. 76, S228-S232 (1995).
    • (1995) Clin. Immunol. Immunopathol. , vol.76
    • Hershfield, M.S.1
  • 102
    • 1942531983 scopus 로고    scopus 로고
    • A historical review of bone marrow transplantation for immunodeficiencies
    • Buckley, R. H. A historical review of bone marrow transplantation for immunodeficiencies. J. Allergy Clin. Immunol. 113, 793-800 (2004).
    • (2004) J. Allergy Clin. Immunol. , vol.113 , pp. 793-800
    • Buckley, R.H.1
  • 103
    • 0037442176 scopus 로고    scopus 로고
    • Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: Report of the European experience 1968-99
    • Antoine, C. et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 361, 553-560 (2003). This paper details the outcomes of 475 patients in Europe who, over three decades, received a haematopoietic stem-cell transplant.
    • (2003) Lancet , vol.361 , pp. 553-560
    • Antoine, C.1
  • 104
    • 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
  • 105
    • 0037370002 scopus 로고    scopus 로고
    • T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation
    • Sarzotti, M. et al. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J. Immunol. 170, 2711-2718 (2003).
    • (2003) J. Immunol. , vol.170 , pp. 2711-2718
    • Sarzotti, M.1
  • 106
    • 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). This report was the first description of successful gene therapy for patients with X-linked SCID.
    • (2000) Science , vol.288 , pp. 669-672
    • Cavazzana-Calvo, M.1
  • 107
    • 0037129435 scopus 로고    scopus 로고
    • Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
    • Hacein-Bey-Abina, S. et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346, 1185-1193 (2002).
    • (2002) N. Engl. J. Med. , vol.346 , pp. 1185-1193
    • Hacein-Bey-Abina, S.1
  • 108
    • 0037189401 scopus 로고    scopus 로고
    • Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
    • Aiuti, A. et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410-2413 (2002).
    • (2002) Science , vol.296 , pp. 2410-2413
    • Aiuti, A.1
  • 109
    • 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
  • 110
    • 1342289322 scopus 로고    scopus 로고
    • Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency
    • McCormack, M. P. & Rabbitts, T. H. Activation of the T-cell oncogene LMO2 after gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med. 350, 913-922 (2004). This study details the role of LMO2 in the development of the insertional mutagenesis that was seen in several patients with X-linked SCID after gene therapy.
    • (2004) N. Engl. J. Med. , vol.350 , pp. 913-922
    • McCormack, M.P.1    Rabbitts, T.H.2
  • 111
    • 17844362968 scopus 로고    scopus 로고
    • + progenitor cells from HLA-mismatched parental donors in children
    • + progenitor cells from HLA-mismatched parental donors in children. Bone Marrow Transplant. 27, 777-783 (2001).
    • (2001) Bone Marrow Transplant. , vol.27 , pp. 777-783
    • Handgretinger, R.1
  • 112
    • 10744233858 scopus 로고    scopus 로고
    • American Society of Gene Therapy (ASGT) ad hoc subcommittee on retroviral-mediated gene transfer to hematopoietic stem cells
    • Kohn, D. B. et al. American Society of Gene Therapy (ASGT) ad hoc subcommittee on retroviral-mediated gene transfer to hematopoietic stem cells. Mol. Ther. 8, 180-187 (2003).
    • (2003) Mol. Ther. , vol.8 , pp. 180-187
    • Kohn, D.B.1
  • 113
    • 0033535507 scopus 로고    scopus 로고
    • Exposing the human nude phenotype
    • Frank, J. et al. Exposing the human nude phenotype. Nature 398, 473-474 (1999).
    • (1999) Nature , vol.398 , pp. 473-474
    • Frank, J.1
  • 114
    • 0032127159 scopus 로고    scopus 로고
    • BLNK: A central linker protein in B cell activation
    • Fu, C., Turck, C. W., Kurosaki, T. & Chan, A. C. BLNK: a central linker protein in B cell activation. Immunity 9, 93-103 (1998).
    • (1998) Immunity , vol.9 , pp. 93-103
    • Fu, C.1    Turck, C.W.2    Kurosaki, T.3    Chan, A.C.4
  • 115
    • 0033521148 scopus 로고    scopus 로고
    • An essential role for BLNK in human B cell development
    • Minegishi, Y. et al. An essential role for BLNK in human B cell development. Science 286, 1954-1957 (1999).
    • (1999) Science , vol.286 , pp. 1954-1957
    • Minegishi, Y.1
  • 116
    • 23044443492 scopus 로고    scopus 로고
    • Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
    • Salzer, U. et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nature Genet. 37, 820-828 (2005).
    • (2005) Nature Genet. , vol.37 , pp. 820-828
    • Salzer, U.1
  • 117
    • 23044463627 scopus 로고    scopus 로고
    • TACI is mutant in common variable immunodeficiency and IgA deficiency
    • Castigli, E. et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nature Genet. 37, 829-834 (2005).
    • (2005) Nature Genet. , vol.37 , pp. 829-834
    • Castigli, E.1


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