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Volumn 13, Issue 7, 2013, Pages 519-533

Primary antibody deficiencies

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; B LYMPHOCYTE RECEPTOR; BRUTON TYROSINE KINASE; CD19 ANTIGEN; CD20 ANTIGEN; CD40 LIGAND; CHEMOKINE RECEPTOR CXCR5; COMPLEMENT COMPONENT C3D RECEPTOR; I KAPPA B KINASE ALPHA; I KAPPA B KINASE BETA; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN D; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERCELLULAR ADHESION MOLECULE 1; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; STROMAL CELL DERIVED FACTOR 1; TRANSCRIPTION FACTOR FOXO; WISKOTT ALDRICH SYNDROME PROTEIN;

EID: 84879692472     PISSN: 14741733     EISSN: 14741741     Source Type: Journal    
DOI: 10.1038/nri3466     Document Type: Review
Times cited : (188)

References (120)
  • 1
    • 67650744339 scopus 로고    scopus 로고
    • Primary B cell immunodeficiencies: Comparisons and contrasts
    • Conley, M. E. et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu. Rev. Immunol. 27, 199-227 (2009).
    • (2009) Annu. Rev. Immunol. , vol.27 , pp. 199-227
    • Conley, M.E.1
  • 4
    • 1142310694 scopus 로고    scopus 로고
    • Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes)
    • Durandy, A., Revy, P. & Fischer, A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv. Immunol. 82, 295-330 (2004).
    • (2004) Adv. Immunol. , vol.82 , pp. 295-330
    • Durandy, A.1    Revy, P.2    Fischer, A.3
  • 5
    • 84855332531 scopus 로고    scopus 로고
    • The establishment of early B cell tolerance in humans: Lessons from primary immunodeficiency diseases
    • Meffre, E. The establishment of early B cell tolerance in humans: lessons from primary immunodeficiency diseases. Ann. NY Acad. Sci. 1246, 1-10 (2011).
    • (2011) Ann. NY Acad. Sci. , vol.1246 , pp. 1-10
    • Meffre, E.1
  • 6
    • 61849167388 scopus 로고    scopus 로고
    • Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
    • Salzer, U. et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood 113, 1967-1976 (2009).
    • (2009) Blood , vol.113 , pp. 1967-1976
    • Salzer, U.1
  • 7
    • 84860359332 scopus 로고    scopus 로고
    • Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K
    • Conley, M. E. et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. J. Exp. Med. 209, 463-470 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 463-470
    • Conley, M.E.1
  • 8
    • 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
  • 9
    • 2342667375 scopus 로고    scopus 로고
    • Phosphoinositide 3-kinase and its targets in B-cell and T-cell signaling
    • Fruman, D. A. Phosphoinositide 3-kinase and its targets in B-cell and T-cell signaling. Curr. Opin. Immunol. 16, 314-320 (2004).
    • (2004) Curr. Opin. Immunol. , vol.16 , pp. 314-320
    • Fruman, D.A.1
  • 11
    • 19144365482 scopus 로고    scopus 로고
    • Discordant phenotype in siblings with X-linked agammaglobulinemia
    • Bykowsky, M. J. et al. Discordant phenotype in siblings with X-linked agammaglobulinemia. Am. J. Hum. Genet. 58, 477-483 (1996).
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 477-483
    • Bykowsky, M.J.1
  • 12
    • 0034969091 scopus 로고    scopus 로고
    • A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency
    • Wood, P. M. et al. A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. J. Pediatr. 139, 148-151 (2001).
    • (2001) J. Pediatr. , vol.139 , pp. 148-151
    • Wood, P.M.1
  • 13
    • 0037656291 scopus 로고    scopus 로고
    • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
    • Hernandez, P. A. et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genet. 34, 70-74 (2003).
    • (2003) Nature Genet. , vol.34 , pp. 70-74
    • Hernandez, P.A.1
  • 14
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Derry, J. M., Ochs, H. D. & Francke, U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78, 635-644 (1994).
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 15
    • 12844254921 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response
    • Westerberg, L. et al. Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood 105, 1144-1152 (2005).
    • (2005) Blood , vol.105 , pp. 1144-1152
    • Westerberg, L.1
  • 16
    • 84860333144 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function
    • Westerberg, L. S. et al. Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. Blood 119, 3966-3974 (2012).
    • (2012) Blood , vol.119 , pp. 3966-3974
    • Westerberg, L.S.1
  • 17
    • 80053132181 scopus 로고    scopus 로고
    • WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity
    • Becker-Herman, S. et al. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J. Exp. Med. 208, 2033-2042 (2011).
    • (2011) J. Exp. Med. , vol.208 , pp. 2033-2042
    • Becker-Herman, S.1
  • 18
    • 84856946231 scopus 로고    scopus 로고
    • A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
    • Lanzi, G. et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J. Exp. Med. 209, 29-34 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 29-34
    • Lanzi, G.1
  • 19
    • 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
  • 20
    • 70449718702 scopus 로고    scopus 로고
    • Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production
    • Randall, K. L. et al. Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nature Immunol. 10, 1283-1291 (2009).
    • (2009) Nature Immunol. , vol.10 , pp. 1283-1291
    • Randall, K.L.1
  • 21
    • 84861236002 scopus 로고    scopus 로고
    • DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
    • Jabara, H. H. et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nature Immunol. 13, 612-620 (2012).
    • (2012) Nature Immunol. , vol.13 , pp. 612-620
    • Jabara, H.H.1
  • 22
    • 77957883342 scopus 로고    scopus 로고
    • The hippo signaling pathway in development and cancer
    • Pan, D. The hippo signaling pathway in development and cancer. Dev. Cell 19, 491-505 (2010).
    • (2010) Dev. Cell , vol.19 , pp. 491-505
    • Pan, D.1
  • 23
    • 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
  • 24
    • 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
  • 25
    • 69549128384 scopus 로고    scopus 로고
    • B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans
    • Warnatz, K. et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc. Natl Acad. Sci. USA 106, 13945-13950 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 13945-13950
    • Warnatz, K.1
  • 26
    • 84875502132 scopus 로고    scopus 로고
    • Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK
    • Wang, H. Y. et al. Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK. Proc. Natl Acad. Sci. USA 110, 5127-5132 (2013).
    • (2013) Proc. Natl Acad. Sci. USA , vol.110 , pp. 5127-5132
    • Wang, H.Y.1
  • 27
    • 33646347921 scopus 로고    scopus 로고
    • An antibody-deficiency syndrome due to mutations in the CD19 gene
    • van Zelm, M. C. et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 354, 1901-1912 (2006).
    • (2006) N. Engl. J. Med. , vol.354 , pp. 1901-1912
    • Van Zelm, M.C.1
  • 28
    • 77951146803 scopus 로고    scopus 로고
    • CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
    • van Zelm, M. C. et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J. Clin. Invest. 120, 1265-1274 (2010).
    • (2010) J. Clin. Invest. , vol.120 , pp. 1265-1274
    • Van Zelm, M.C.1
  • 29
    • 84857802310 scopus 로고    scopus 로고
    • Genetic CD21 deficiency is associated with hypogammaglobulinemia
    • Thiel, J. et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J. Allergy Clin. Immunol. 129, 801-810.e6 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129
    • Thiel, J.1
  • 30
    • 74949085764 scopus 로고    scopus 로고
    • CD20 deficiency in humans results in impaired T cell-independent antibody responses
    • Kuijpers, T. W. et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J. Clin. Invest. 120, 214-222 (2010).
    • (2010) J. Clin. Invest. , vol.120 , pp. 214-222
    • Kuijpers, T.W.1
  • 31
    • 0033547330 scopus 로고    scopus 로고
    • Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
    • Xu, G. L. et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187-191 (1999).
    • (1999) Nature , vol.402 , pp. 187-191
    • Xu, G.L.1
  • 32
    • 79958846467 scopus 로고    scopus 로고
    • Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
    • de Greef, J. C. et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am. J. Hum. Genet. 88, 796-804 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 796-804
    • De Greef, J.C.1
  • 33
    • 1642401844 scopus 로고    scopus 로고
    • Defective B-cell-negative selection and terminal differentiation in the ICF syndrome
    • Blanco-Betancourt, C. E. et al. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood 103, 2683-2690 (2004).
    • (2004) Blood , vol.103 , pp. 2683-2690
    • Blanco-Betancourt, C.E.1
  • 34
    • 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
  • 35
    • 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
  • 36
    • 84873348862 scopus 로고    scopus 로고
    • Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
    • 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
    • Stepensky, P.1
  • 37
    • 84870784256 scopus 로고    scopus 로고
    • Congenital B cell lymphocytosis explained by novel germline CARD11 mutations
    • Snow, A. L. et al. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J. Exp. Med. 209, 2247-2261 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 2247-2261
    • Snow, A.L.1
  • 38
    • 0033658369 scopus 로고    scopus 로고
    • A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-γ (NEMO)
    • Zonana, J. et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-γ (NEMO). Am. J. Hum. Genet. 67, 6 (2000).
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 6
    • Zonana, J.1
  • 39
    • 57149141634 scopus 로고    scopus 로고
    • Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
    • Hanson, E. P. et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J. Allergy Clin. Immunol. 122, 1169-1177.e16 (2008).
    • (2008) J. Allergy Clin. Immunol. , vol.122
    • Hanson, E.P.1
  • 40
    • 84871898628 scopus 로고    scopus 로고
    • Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome')
    • Pachlopnik Schmid, J. et al. Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome'). J. Exp. Med. 209, 2323-2330 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 2323-2330
    • Pachlopnik Schmid, J.1
  • 41
    • 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
  • 42
    • 84856432907 scopus 로고    scopus 로고
    • A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
    • Ohnishi, H. et al. A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome. J. Allergy Clin. Immunol. 129, 578-580 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129 , pp. 578-580
    • Ohnishi, H.1
  • 43
    • 30444457243 scopus 로고    scopus 로고
    • FDC-specific functions of p55TNFR and IKK2 in the development of FDC networks and of antibody responses
    • Victoratos, P. et al. FDC-specific functions of p55TNFR and IKK2 in the development of FDC networks and of antibody responses. Immunity 24, 65-77 (2006).
    • (2006) Immunity , vol.24 , pp. 65-77
    • Victoratos, P.1
  • 44
    • 84869429707 scopus 로고    scopus 로고
    • Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
    • Boisson, B. et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nature Immunol. 13, 1178-1186 (2012).
    • (2012) Nature Immunol. , vol.13 , pp. 1178-1186
    • Boisson, B.1
  • 45
    • 84864461405 scopus 로고    scopus 로고
    • LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
    • Alangari, A. et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J. Allergy Clin. Immunol. 130, 481-488.e2 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.130
    • Alangari, A.1
  • 46
    • 84862132898 scopus 로고    scopus 로고
    • Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
    • Lopez-Herrera, G. et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am. J. Hum. Genet. 90, 986-1001 (2012).
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 986-1001
    • Lopez-Herrera, G.1
  • 47
    • 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
  • 48
    • 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
  • 49
    • 19044396637 scopus 로고    scopus 로고
    • Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2
    • Imai, K. et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin. Immunol. 115, 277-285 (2005).
    • (2005) Clin. Immunol. , vol.115 , pp. 277-285
    • Imai, K.1
  • 50
    • 0041381361 scopus 로고    scopus 로고
    • AID mutant analyses indicate requirement for class-switch-specific cofactors
    • Ta, V. T. et al. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nature Immunol. 4, 843-848 (2003).
    • (2003) Nature Immunol. , vol.4 , pp. 843-848
    • Ta, V.T.1
  • 51
    • 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
  • 52
    • 84863115243 scopus 로고    scopus 로고
    • Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis
    • Du, L. et al. Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis. J. Exp. Med. 209, 291-305 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 291-305
    • Du, L.1
  • 53
    • 59049103900 scopus 로고    scopus 로고
    • The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage
    • Stewart, G. S. et al. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell 136, 420-434 (2009).
    • (2009) Cell , vol.136 , pp. 420-434
    • Stewart, G.S.1
  • 54
    • 58149165112 scopus 로고    scopus 로고
    • Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
    • Peron, S. et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J. Exp. Med. 205, 2465-2472 (2008).
    • (2008) J. Exp. Med. , vol.205 , pp. 2465-2472
    • Peron, S.1
  • 55
    • 84856895159 scopus 로고    scopus 로고
    • Human MSH6 deficiency is associated with impaired antibody maturation
    • Gardes, P. et al. Human MSH6 deficiency is associated with impaired antibody maturation. J. Immunol. 188, 2023-2029 (2012).
    • (2012) J. Immunol. , vol.188 , pp. 2023-2029
    • Gardes, P.1
  • 56
    • 76149139419 scopus 로고    scopus 로고
    • B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans
    • Avery, D. T. et al. B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J. Exp. Med. 207, 155-171 (2010).
    • (2010) J. Exp. Med. , vol.207 , pp. 155-171
    • Avery, D.T.1
  • 57
    • 84877614089 scopus 로고    scopus 로고
    • Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
    • Kotlarz, D. et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J. Exp. Med. 210, 433-443 (2013).
    • (2013) J. Exp. Med. , vol.210 , pp. 433-443
    • Kotlarz, D.1
  • 58
    • 34548317417 scopus 로고    scopus 로고
    • Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
    • Minegishi, Y. et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448, 1058-1062 (2007).
    • (2007) Nature , vol.448 , pp. 1058-1062
    • Minegishi, Y.1
  • 59
    • 0037159687 scopus 로고    scopus 로고
    • A critical role for IL-21 in regulating immunoglobulin production
    • Ozaki, K. et al. A critical role for IL-21 in regulating immunoglobulin production. Science 298, 1630-1634 (2002).
    • (2002) Science , vol.298 , pp. 1630-1634
    • Ozaki, K.1
  • 60
    • 84255197284 scopus 로고    scopus 로고
    • IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo
    • Recher, M. et al. IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo. Blood 118, 6824-6835 (2011).
    • (2011) Blood , vol.118 , pp. 6824-6835
    • Recher, M.1
  • 61
    • 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
  • 62
    • 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. Nature Genet. 20, 394-397 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3    Leonard, W.J.4
  • 63
    • 0242285603 scopus 로고    scopus 로고
    • Effect of CD3λ deficiency on maturation of α/β and γ/λ T-cell lineages in severe combined immunodeficiency
    • Dadi, H. K., Simon, A. J. & Roifman, C. M. Effect of CD3λ deficiency on maturation of α/β and γ/λ 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
  • 64
    • 14544288042 scopus 로고    scopus 로고
    • Severe combined immunodeficiency caused by deficiency in either the λ or the ? subunit of CD3
    • de Saint Basile, G. et al. Severe combined immunodeficiency caused by deficiency in either the λ or the ? subunit of CD3. J. Clin. Invest. 114, 1512-1517 (2004).
    • (2004) J. Clin. Invest. , vol.114 , pp. 1512-1517
    • De Saint Basile, G.1
  • 65
    • 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
  • 66
    • 0021347280 scopus 로고
    • Familial DiGeorge syndrome and associated partial monosomy of chromosome 22
    • Greenberg, F. et al. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum. Genet. 65, 317-319 (1984).
    • (1984) Hum. Genet. , vol.65 , pp. 317-319
    • Greenberg, F.1
  • 67
    • 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
  • 68
    • 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
  • 69
    • 84869144892 scopus 로고    scopus 로고
    • Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency
    • Hauck, F. et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J. Allergy Clin. Immunol. 130, 1144-1152 e1111 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.130
    • Hauck, F.1
  • 70
    • 0021998764 scopus 로고
    • A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome
    • Lisowska-Grospierre, B. et al. A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome. J. Clin. Invest. 76, 381-385 (1985).
    • (1985) J. Clin. Invest. , vol.76 , pp. 381-385
    • Lisowska-Grospierre, B.1
  • 71
    • 84864303294 scopus 로고    scopus 로고
    • The origins, function, and regulation of T follicular helper cells
    • Ma, C. S., Deenick, E. K., Batten, M. & Tangye, S. G. The origins, function, and regulation of T follicular helper cells. J. Exp. Med. 209, 1241-1253 (2012).
    • (2012) J. Exp. Med. , vol.209 , pp. 1241-1253
    • Ma, C.S.1    Deenick, E.K.2    Batten, M.3    Tangye, S.G.4
  • 72
    • 33645735643 scopus 로고    scopus 로고
    • Human ICOS-deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency
    • Warnatz, K. et al. Human ICOS-deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood 107, 3045-3052 (2005).
    • (2005) Blood , vol.107 , pp. 3045-3052
    • Warnatz, K.1
  • 73
    • 33749151018 scopus 로고    scopus 로고
    • ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells
    • Bossaller, L. et al. ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J. Immunol. 177, 4927-4932 (2006).
    • (2006) J. Immunol. , vol.177 , pp. 4927-4932
    • Bossaller, L.1
  • 74
    • 0027533185 scopus 로고
    • Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
    • Korthauer, U. et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361, 539-541 (1993).
    • (1993) Nature , vol.361 , pp. 539-541
    • Korthauer, U.1
  • 75
    • 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
  • 76
    • 84870980098 scopus 로고    scopus 로고
    • IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP-but not UNC-93B-deficient patients
    • Weller, S. et al. IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP-but not UNC-93B-deficient patients. Blood 120, 4992-5001 (2012).
    • (2012) Blood , vol.120 , pp. 4992-5001
    • Weller, S.1
  • 77
    • 0035970105 scopus 로고    scopus 로고
    • CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans
    • Weller, S. et al. CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. Proc. Natl Acad. Sci. USA 98, 1166-1170 (2001).
    • (2001) Proc. Natl Acad. Sci. USA , vol.98 , pp. 1166-1170
    • Weller, S.1
  • 78
    • 53649107278 scopus 로고    scopus 로고
    • SAP-controlled T-B cell interactions underlie germinal centre formation
    • Qi, H., Cannons, J. L., Klauschen, F., Schwartzberg, P. L. & Germain, R. N. SAP-controlled T-B cell interactions underlie germinal centre formation. Nature 455, 764-769 (2008).
    • (2008) Nature , vol.455 , pp. 764-769
    • Qi, H.1    Cannons, J.L.2    Klauschen, F.3    Schwartzberg, P.L.4    Germain, R.N.5
  • 79
    • 0032190081 scopus 로고    scopus 로고
    • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
    • Sayos, J. et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395, 462-469 (1998).
    • (1998) Nature , vol.395 , pp. 462-469
    • Sayos, J.1
  • 80
    • 84857800335 scopus 로고    scopus 로고
    • CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
    • 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
    • Van Montfrans, J.M.1
  • 81
    • 84874537855 scopus 로고    scopus 로고
    • Combined immunodeficiency with life-threatening EBV- associatedlymphoproliferative disorder in patients lacking functional CD27
    • Salzer, E. et al. Combined immunodeficiency with life-threatening EBV-associatedlymphoproliferative disorder in patients lacking functional CD27. Haematologica 98, 473-478 (2012).
    • (2012) Haematologica , vol.98 , pp. 473-478
    • Salzer, E.1
  • 82
    • 84859711557 scopus 로고    scopus 로고
    • Functional STAT3 deficiency compromises the generation of human T follicular helper cells
    • Ma, C. S. et al. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood 119, 3997-4008 (2012).
    • (2012) Blood , vol.119 , pp. 3997-4008
    • Ma, C.S.1
  • 83
    • 84855962862 scopus 로고    scopus 로고
    • B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen
    • Puga, I. et al. B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nature Immunol. 13, 170-180 (2011).
    • (2011) Nature Immunol. , vol.13 , pp. 170-180
    • Puga, I.1
  • 84
    • 84870764516 scopus 로고    scopus 로고
    • Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells
    • Moir, S. et al. Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells. Blood 120, 4850-4858 (2012).
    • (2012) Blood , vol.120 , pp. 4850-4858
    • Moir, S.1
  • 85
    • 84869115700 scopus 로고    scopus 로고
    • Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts
    • Chapel, H. et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J. Allergy Clin. Immunol. 130, 1197-1198.e99 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.130
    • Chapel, H.1
  • 86
    • 84857467014 scopus 로고    scopus 로고
    • Morbidity and mortality in common variable immune deficiency over 4 decades
    • Resnick, E. S., Moshier, E. L., Godbold, J. H. & Cunningham-Rundles, C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119, 1650-1657 (2012).
    • (2012) Blood , vol.119 , pp. 1650-1657
    • Resnick, E.S.1    Moshier, E.L.2    Godbold, J.H.3    Cunningham-Rundles, C.4
  • 87
    • 79957874121 scopus 로고    scopus 로고
    • Genome-wide association identifies diverse causes of common variable immunodeficiency
    • Orange, J. S. et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J. Allergy Clin. Immunol. 127, 1360-1367 e1366 (2011).
    • (2011) J. Allergy Clin. Immunol. , vol.127
    • Orange, J.S.1
  • 88
    • 23344453236 scopus 로고    scopus 로고
    • Mucosal B cells: Phenotypic characteristics, transcriptional regulation, and homing properties
    • Brandtzaeg, P. & Johansen, F. E. Mucosal B cells: phenotypic characteristics, transcriptional regulation, and homing properties. Immunol. Rev. 206, 32-63 (2005).
    • (2005) Immunol. Rev. , vol.206 , pp. 32-63
    • Brandtzaeg, P.1    Johansen, F.E.2
  • 89
    • 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
  • 90
    • 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
  • 91
    • 73249122274 scopus 로고    scopus 로고
    • Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases
    • Rioux, J. D. et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc. Natl Acad. Sci. USA 106, 18680-18685 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 18680-18685
    • Rioux, J.D.1
  • 92
    • 0020454947 scopus 로고
    • Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals
    • Lefranc, M. P., Lefranc, G. & Rabbitts, T. H. Inherited deletion of immunoglobulin heavy chain constant region genes in normal human individuals. Nature 300, 760-762 (1982).
    • (1982) Nature , vol.300 , pp. 760-762
    • Lefranc, M.P.1    Lefranc, G.2    Rabbitts, T.H.3
  • 93
    • 0345269199 scopus 로고    scopus 로고
    • Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen
    • Kruetzmann, S. et al. Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen. J. Exp. Med. 197, 939-945 (2003).
    • (2003) J. Exp. Med. , vol.197 , pp. 939-945
    • Kruetzmann, S.1
  • 94
    • 84857799430 scopus 로고    scopus 로고
    • Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia
    • Micol, R. et al. Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. J. Allergy Clin. Immunol. 129, 770-777 (2012).
    • (2012) J. Allergy Clin. Immunol. , vol.129 , pp. 770-777
    • Micol, R.1
  • 95
    • 0041689676 scopus 로고    scopus 로고
    • Predominant autoantibody production by early human B cell precursors
    • Wardemann, H. et al. Predominant autoantibody production by early human B cell precursors. Science 301, 1374-1377 (2003).
    • (2003) Science , vol.301 , pp. 1374-1377
    • Wardemann, H.1
  • 96
    • 84868619716 scopus 로고    scopus 로고
    • Regulatory B cells control T-cell autoimmunity through IL-21-dependent cognate interactions
    • Yoshizaki, A. et al. Regulatory B cells control T-cell autoimmunity through IL-21-dependent cognate interactions. Nature 491, 264-268 (2012).
    • (2012) Nature , vol.491 , pp. 264-268
    • Yoshizaki, A.1
  • 98
    • 84873629665 scopus 로고    scopus 로고
    • Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans
    • Durandy, A., Cantaert, T., Kracker, S. & Meffre, E. Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans. Autoimmunity 46, 148-156 (2012).
    • (2012) Autoimmunity , vol.46 , pp. 148-156
    • Durandy, A.1    Cantaert, T.2    Kracker, S.3    Meffre, E.4
  • 99
    • 51849125587 scopus 로고    scopus 로고
    • Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease
    • Hase, K. et al. Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease. PLoS ONE 3, e3033 (2008).
    • (2008) PLoS ONE , vol.3
    • Hase, K.1
  • 100
    • 69449083224 scopus 로고    scopus 로고
    • Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells
    • Rakhmanov, M. et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc. Natl Acad. Sci. USA 106, 13451-13456 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 13451-13456
    • Rakhmanov, M.1
  • 101
    • 77954684486 scopus 로고    scopus 로고
    • Complement receptor 2/CD21-human naive B cells contain mostly autoreactive unresponsive clones
    • Isnardi, I. et al. Complement receptor 2/CD21-human naive B cells contain mostly autoreactive unresponsive clones. Blood 115, 5026-5036 (2010).
    • (2010) Blood , vol.115 , pp. 5026-5036
    • Isnardi, I.1
  • 102
    • 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
  • 103
    • 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
  • 104
    • 84863030888 scopus 로고    scopus 로고
    • Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
    • Ombrello, M. J. et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N. Engl. J. Med. 366, 330-338 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , pp. 330-338
    • Ombrello, M.J.1
  • 105
    • 84867255789 scopus 로고    scopus 로고
    • A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
    • Zhou, Q. et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am. J. Hum. Genet. 91, 713-720 (2012).
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 713-720
    • Zhou, Q.1
  • 106
    • 77950629297 scopus 로고    scopus 로고
    • Immunodeficiency due to mutations in ORAI1 and STIM1
    • Feske, S., Picard, C. & Fischer, A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin. Immunol. 135, 169-182 (2010).
    • (2010) Clin. Immunol. , vol.135 , pp. 169-182
    • Feske, S.1    Picard, C.2    Fischer, A.3
  • 107
    • 80051641437 scopus 로고    scopus 로고
    • Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott- Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: An international collaborative study
    • Moratto, D. et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott- Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood 118, 1675-1684 (2011).
    • (2011) Blood , vol.118 , pp. 1675-1684
    • Moratto, D.1
  • 108
    • 0031567974 scopus 로고    scopus 로고
    • Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM
    • Hayward, A. R. et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J. Immunol. 158, 977-983 (1997).
    • (1997) J. Immunol. , vol.158 , pp. 977-983
    • Hayward, A.R.1
  • 109
    • 80053627848 scopus 로고    scopus 로고
    • Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand
    • Jain, A. et al. Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. Blood 118, 3811-3817 (2011).
    • (2011) Blood , vol.118 , pp. 3811-3817
    • Jain, A.1
  • 110
    • 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
  • 111
    • 78149482538 scopus 로고    scopus 로고
    • Stem-cell gene therapy for the Wiskott-Aldrich syndrome
    • Boztug, K. et al. Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N. Engl. J. Med. 363, 1918-1927 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 1918-1927
    • Boztug, K.1
  • 112
    • 77950397760 scopus 로고    scopus 로고
    • B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia
    • Kerns, H. M. et al. B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia. Blood 115, 2146-2155 (2010).
    • (2010) Blood , vol.115 , pp. 2146-2155
    • Kerns, H.M.1
  • 113
    • 0015513109 scopus 로고
    • Adenosine-deaminase deficiency and combined immunodeficiency syndrome
    • Dissing, J. & Knudsen, B. Adenosine-deaminase deficiency and combined immunodeficiency syndrome. Lancet 2, 1316 (1972).
    • (1972) Lancet , vol.2 , pp. 1316
    • Dissing, J.1    Knudsen, B.2
  • 114
    • 0015515283 scopus 로고
    • Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity
    • Giblett, E. R., Anderson, J. E., Cohen, F., Pollara, B. & Meuwissen, H. J. 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.R.1    Anderson, J.E.2    Cohen, F.3    Pollara, B.4    Meuwissen, H.J.5
  • 115
    • 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. Nature Genet. 41, 106-111 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 106-111
    • Lagresle-Peyrou, C.1
  • 116
    • 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. Nature Genet. 41, 101-105 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 101-105
    • Pannicke, U.1
  • 117
    • 84855486059 scopus 로고    scopus 로고
    • Dyskeratosis congenita as a disorder of telomere maintenance
    • Nelson, N. D. & Bertuch, A. A. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat. Res. 730, 43-51 (2012).
    • (2012) Mutat. Res. , vol.730 , pp. 43-51
    • Nelson, N.D.1    Bertuch, A.A.2
  • 118
    • 80052089944 scopus 로고    scopus 로고
    • Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
    • Dickinson, R. E. et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118, 2656-2658 (2011).
    • (2011) Blood , vol.118 , pp. 2656-2658
    • Dickinson, R.E.1
  • 119
    • 0037312006 scopus 로고    scopus 로고
    • Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis
    • Moshous, D. et al. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 111, 381-387 (2003).
    • (2003) J. Clin. Invest. , vol.111 , pp. 381-387
    • Moshous, D.1
  • 120
    • 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


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