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Volumn 109, Issue 2, 2003, Pages 109-118

Update on primary immunodeficiency: Defects of lymphocytes

Author keywords

Antibody deficiency; Primary immune deficiency; Severe combined immunodeficiency; T cell activation defects

Indexed keywords

ADENOSINE DEAMINASE; ALPHA FETOPROTEIN; ANTIBIOTIC AGENT; ANTIBODY; ANTIFUNGAL AGENT; ANTIINFECTIVE AGENT; BRUTONS TYROSINE KINASE; CASPASE 10; CD4 ANTIGEN; CYCLOSPORIN; CYTIDINE DEAMINASE; CYTOKINE; DNA TOPOISOMERASE INHIBITOR; DOUBLE STRANDED DNA; FAS LIGAND; GENE PRODUCT; HYPERIMMUNE GLOBULIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN M; IMMUNOSUPPRESSIVE AGENT; INTERLEUKIN 2 RECEPTOR; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; PROTEIN TYROSINE KINASE; RECOMBINASE; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; T LYMPHOCYTE RECEPTOR; TACROLIMUS; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

EID: 0242270832     PISSN: 15216616     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1521-6616(03)00183-9     Document Type: Short Survey
Times cited : (28)

References (131)
  • 1
    • 0034532283 scopus 로고    scopus 로고
    • Antibody Deficiency Syndromes
    • T.A. Fleisher, & M. Ballow. Philadelphia: Saunders
    • Sorensen R.U., Moore C. Antibody Deficiency Syndromes. Fleisher T.A., Ballow M. Pediatric Clinics of North America. 2000;1225-1252 Saunders, Philadelphia.
    • (2000) Pediatric Clinics of North America , pp. 1225-1252
    • Sorensen, R.U.1    Moore, C.2
  • 2
    • 0000419304 scopus 로고
    • Agammaglobulinemia
    • Bruton O.C. Agammaglobulinemia. Pediatrics. 9:1952;722-727.
    • (1952) Pediatrics , vol.9 , pp. 722-727
    • Bruton, O.C.1
  • 3
    • 0027441332 scopus 로고
    • The gene involved in X-linked agammaglobulinemia is a member of the Src family of protein-tyrosine kinases
    • Vetrie D., Vorechovsky I., Sideras P., Holland J., Davies A., Flinter F., et al. The gene involved in X-linked agammaglobulinemia is a member of the Src family of protein-tyrosine kinases. Nature. 361:1993;226-233.
    • (1993) Nature , vol.361 , pp. 226-233
    • Vetrie, D.1    Vorechovsky, I.2    Sideras, P.3    Holland, J.4    Davies, A.5    Flinter, F.6
  • 4
    • 0027399081 scopus 로고
    • Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
    • Tsukada S., Saffran D.C., Rawlings D.J., Parolini O., Allen R.C., Klisak I., et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 72:1993;279-290.
    • (1993) Cell , vol.72 , pp. 279-290
    • Tsukada, S.1    Saffran, D.C.2    Rawlings, D.J.3    Parolini, O.4    Allen, R.C.5    Klisak, I.6
  • 6
    • 0006724470 scopus 로고    scopus 로고
    • Atypical Btk deficiency presenting with selective polysaccharide deficiency in the presence of normal serum immunoglobulins (abstract)
    • Wood P., Smith E., Hazelwood M., Joyce H., Granoff D., Kumararatne D. Atypical Btk deficiency presenting with selective polysaccharide deficiency in the presence of normal serum immunoglobulins (abstract). J. Allergy Clin. Immunol. 105:2000;S219.
    • (2000) J. Allergy Clin. Immunol. , vol.105 , pp. 219
    • Wood, P.1    Smith, E.2    Hazelwood, M.3    Joyce, H.4    Granoff, D.5    Kumararatne, D.6
  • 7
    • 0036750697 scopus 로고    scopus 로고
    • Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: An Italian multicenter study
    • Plebani A., Soresina A., Rondelli R., Amato G.M., Azzari C., Cardinale F., et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia an Italian multicenter study . Clin. Immunol. 104:2002;221-230.
    • (2002) Clin. Immunol. , vol.104 , pp. 221-230
    • Plebani, A.1    Soresina, A.2    Rondelli, R.3    Amato, G.M.4    Azzari, C.5    Cardinale, F.6
  • 8
    • 0036796668 scopus 로고    scopus 로고
    • Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
    • Conley M.E., Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J. Pediatr. 141:2002;566-571.
    • (2002) J. Pediatr. , vol.141 , pp. 566-571
    • Conley, M.E.1    Howard, V.2
  • 9
    • 0032806334 scopus 로고    scopus 로고
    • Diagnostic criteria for primary immunodeficiencies
    • Conley M.E., Notarangelo L.D., Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clin. Immunol. 93:1999;190-197.
    • (1999) Clin. Immunol. , vol.93 , pp. 190-197
    • Conley, M.E.1    Notarangelo, L.D.2    Etzioni, A.3
  • 12
  • 13
    • 0036525675 scopus 로고    scopus 로고
    • Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell deficient agammaglobulinemia
    • Wang Y., Kanegane H., Sanal O., Tezcan I., Ersoy F., Futatani T., et al. Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell deficient agammaglobulinemia. Am. J. Med. Genet. 108:2002;333-336.
    • (2002) Am. J. Med. Genet. , vol.108 , pp. 333-336
    • Wang, Y.1    Kanegane, H.2    Sanal, O.3    Tezcan, I.4    Ersoy, F.5    Futatani, T.6
  • 16
    • 0034264851 scopus 로고    scopus 로고
    • Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
    • Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell. 102:2000;565-575.
    • (2000) Cell , vol.102 , pp. 565-575
    • Revy, P.1    Muto, T.2    Levy, Y.3    Geissmann, F.4    Plebani, A.5    Sanal, O.6
  • 19
    • 0036224043 scopus 로고    scopus 로고
    • Primary immunodeficiency disorders: Antibody deficiency
    • Ballow M. Primary immunodeficiency disorders antibody deficiency . J. Allergy Clin. Immunol. 109:2002;581-591.
    • (2002) J. Allergy Clin. Immunol. , vol.109 , pp. 581-591
    • Ballow, M.1
  • 20
    • 0020400363 scopus 로고
    • Primary immunodeficiency disorders in Sweden: Cases among children, 1974-1979
    • Fasth A. Primary immunodeficiency disorders in Sweden cases among children, 1974-1979 . J. Clin. Immunol. 2:1982;86-92.
    • (1982) J. Clin. Immunol. , vol.2 , pp. 86-92
    • Fasth, A.1
  • 21
    • 0032879799 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases
    • Primary immunodeficiency diseases. Clin. Exp. Immunol. 118:1999;1-34.
    • (1999) Clin. Exp. Immunol. , vol.118 , pp. 1-34
  • 22
    • 0030804030 scopus 로고    scopus 로고
    • Clin. Exp. Immunol. 109:(Suppl. 1):1997;1-28.
    • (1997) Clin. Exp. Immunol , vol.109 , Issue.SUPPL. 1 , pp. 1-28
  • 23
    • 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. 92:1999;34-48.
    • (1999) Clin. Immunol. , vol.92 , pp. 34-48
    • Cunningham-Rundles, C.1    Bodian, C.2
  • 24
    • 0035726070 scopus 로고    scopus 로고
    • Current perspectives on common variable immunodeficiency (CVID)
    • Spickett G.P. Current perspectives on common variable immunodeficiency (CVID). Clin. Exp. Allergy. 31:2001;536-542.
    • (2001) Clin. Exp. Allergy , vol.31 , pp. 536-542
    • Spickett, G.P.1
  • 27
    • 0028358766 scopus 로고
    • Failure in antigen responses by T cells from patients with common variable immunodeficiency (CVID)
    • Stagg A.J., Funauchi M., Knight S.C., Webster A.D.B., Farrant J. Failure in antigen responses by T cells from patients with common variable immunodeficiency (CVID). Clin. Exp. Immunol. 96:1994;48-53.
    • (1994) Clin. Exp. Immunol. , vol.96 , pp. 48-53
    • Stagg, A.J.1    Funauchi, M.2    Knight, S.C.3    Webster, A.D.B.4    Farrant, J.5
  • 28
    • 0030971165 scopus 로고    scopus 로고
    • Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells
    • Kondratenko I., Amlot P.L., Webster A.D., Farrant J. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells. Clin. Exp. Immunol. 108:1997;9-13.
    • (1997) Clin. Exp. Immunol. , vol.108 , pp. 9-13
    • Kondratenko, I.1    Amlot, P.L.2    Webster, A.D.3    Farrant, J.4
  • 29
    • 0024391052 scopus 로고
    • Peripheral blood lymphocytes of patients with common variable immunodeficiency produce reduced levels of interleukin-4, interleukin-2 and interferon-gamma, but proliferate normally upon activation with mitogens
    • J.L.
    • G. Pastorelli, M.G. Roncarolo, J.L., J.L. Touraine, G. Peronne, P.A. Tovo, J.E. DeVries, Peripheral blood lymphocytes of patients with common variable immunodeficiency produce reduced levels of interleukin-4, interleukin-2 and interferon-gamma, but proliferate normally upon activation with mitogens, Clin. Exp. Immunol. 78 (1989) 334-340.
    • (1989) Clin. Exp. Immunol. , vol.78 , pp. 334-340
    • Pastorelli, G.1    Roncarolo, M.G.2    Touraine, J.L.3    Peronne, G.4    Tovo, P.A.5    DeVries, J.E.6
  • 30
    • 0025335801 scopus 로고
    • Abnormalities of lymphokine gene expression in patients with common variable immunodeficiency
    • Sneller M.C., Strober W. Abnormalities of lymphokine gene expression in patients with common variable immunodeficiency. J. Immunol. 144:1990;3762-3769.
    • (1990) J. Immunol. , vol.144 , pp. 3762-3769
    • Sneller, M.C.1    Strober, W.2
  • 31
    • 0037340349 scopus 로고    scopus 로고
    • Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
    • Grimbacher B., Hutloff A., Schlesier M., Glocker E., Warnatz K., Dräger R., et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4:2003;261-268.
    • (2003) Nat. Immunol. , vol.4 , pp. 261-268
    • Grimbacher, B.1    Hutloff, A.2    Schlesier, M.3    Glocker, E.4    Warnatz, K.5    Dräger, R.6
  • 32
    • 0034757950 scopus 로고    scopus 로고
    • Physiology of IgA and IgA deficiency
    • Cunningbam-Rundles C. Physiology of IgA and IgA deficiency. J. Clin. Immunol. 21:2001;303-309.
    • (2001) J. Clin. Immunol. , vol.21 , pp. 303-309
    • Cunningbam-Rundles, C.1
  • 33
    • 0021971492 scopus 로고
    • Impaired lung function in patients with IgA deficiency and low levels of IgG2 or IgG3
    • Bjorkander J., Bake B., Ozelius V., Hanson L. Impaired lung function in patients with IgA deficiency and low levels of IgG2 or IgG3. N. Engl. J. Med. 313:1985;720-724.
    • (1985) N. Engl. J. Med. , vol.313 , pp. 720-724
    • Bjorkander, J.1    Bake, B.2    Ozelius, V.3    Hanson, L.4
  • 34
    • 0029966380 scopus 로고    scopus 로고
    • Coexistent IgG2 and IgA deficiencies in blood donors
    • Sandler S.G., Trimble J., Mallory D.M. Coexistent IgG2 and IgA deficiencies in blood donors. Transfusion. 36:1996;256-258.
    • (1996) Transfusion , vol.36 , pp. 256-258
    • Sandler, S.G.1    Trimble, J.2    Mallory, D.M.3
  • 35
    • 0037328764 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases
    • Bonilla F.A., Geha R.S. Primary immunodeficiency diseases. J. Allergy Clin. Immunol. 111:(Suppl.):2003;S571-581.
    • (2003) J. Allergy Clin. Immunol. , vol.111 , Issue.SUPPL. , pp. 571-581
    • Bonilla, F.A.1    Geha, R.S.2
  • 36
    • 0018178316 scopus 로고
    • Transient hypogammaglobulinemia of infancy: Review of the literature, clinical and immunologic features of 11 new cases, and long-term follow-up
    • Tiller T., Buckley R. Transient hypogammaglobulinemia of infancy review of the literature, clinical and immunologic features of 11 new cases, and long-term follow-up . J. Pediatr. 92:1978;347-353.
    • (1978) J. Pediatr. , vol.92 , pp. 347-353
    • Tiller, T.1    Buckley, R.2
  • 38
    • 0030862399 scopus 로고    scopus 로고
    • Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
    • Buckley R.H., Schiff R.I., Schiff S.E., Markert M.L., Williams L.W., Harville T.O., et al. Human severe combined immunodeficiency genetic, phenotypic, and functional diversity in one hundred eight infants . J. Pediatr. 130:1997;378-387.
    • (1997) J. Pediatr. , vol.130 , pp. 378-387
    • Buckley, R.H.1    Schiff, R.I.2    Schiff, S.E.3    Markert, M.L.4    Williams, L.W.5    Harville, T.O.6
  • 39
    • 0033751632 scopus 로고    scopus 로고
    • Severe combined immunodeficiency (SCID)
    • Fischer A. Severe combined immunodeficiency (SCID). Clin. Exp. Immunol. 122:2000;143-149.
    • (2000) Clin. Exp. Immunol. , vol.122 , pp. 143-149
    • Fischer, A.1
  • 40
    • 0035832510 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An experimental model for molecular medicine
    • Fischer A. Primary immunodeficiency diseases an experimental model for molecular medicine . Lancet. 357:2001;1863-1869.
    • (2001) Lancet , vol.357 , pp. 1863-1869
    • Fischer, A.1
  • 41
    • 0036246445 scopus 로고    scopus 로고
    • Primary cellular immunodeficiencies
    • Buckley R.H. Primary cellular immunodeficiencies. J. All. Clin. Immunol. 109:2002;747-757.
    • (2002) J. All. Clin. Immunol. , vol.109 , pp. 747-757
    • Buckley, R.H.1
  • 42
    • 0034446692 scopus 로고    scopus 로고
    • Advances in the understanding and treatment of human severe combined immunodeficiency
    • Buckley R.H. Advances in the understanding and treatment of human severe combined immunodeficiency. Immunol. Res. 22:2001;237-251.
    • (2001) Immunol. Res. , vol.22 , pp. 237-251
    • Buckley, R.H.1
  • 44
    • 0027320217 scopus 로고
    • The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
    • Puck J.M., Deschenes S.M., Porter J.C., Dutra A.S., Brown C.J., Willard H.F., et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum. Mol. Genet. 2:1993;1099-1104.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1099-1104
    • Puck, J.M.1    Deschenes, S.M.2    Porter, J.C.3    Dutra, A.S.4    Brown, C.J.5    Willard, H.F.6
  • 45
    • 0027403374 scopus 로고
    • Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
    • Noguchi M., Yi H., Rosenblatt H.M., Filipovich A.H., Adelstein S., Modi W.S., et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 73:1993;147-157.
    • (1993) Cell , vol.73 , pp. 147-157
    • Noguchi, M.1    Yi, H.2    Rosenblatt, H.M.3    Filipovich, A.H.4    Adelstein, S.5    Modi, W.S.6
  • 46
    • 0030296468 scopus 로고    scopus 로고
    • IL2RGbase: A database of gamma c-chain defects causing human X-SCID
    • Puck J.M. IL2RGbase a database of gamma c-chain defects causing human X-SCID . Immunol. Today. 17:1996;506-511.
    • (1996) Immunol. Today , vol.17 , pp. 506-511
    • Puck, J.M.1
  • 47
    • 0037448352 scopus 로고    scopus 로고
    • A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency (correspondence)
    • Hacein-Bey-Abina S., von Kalle C., Schmidt M., Le Deist F., Wulffraat N., Mclntyre E., et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency (correspondence). N. Engl. J. Med. 348:2003;255-256.
    • (2003) N. Engl. J. Med. , vol.348 , pp. 255-256
    • Hacein-Bey-Abina, S.1    Von Kalle, C.2    Schmidt, M.3    Le Deist, F.4    Wulffraat, N.5    Mclntyre, E.6
  • 48
    • 0034501027 scopus 로고    scopus 로고
    • Of genes and phenotypes: The immunological and molecular spectrum of combined immune deficiency: Defects of the gamma(c)-JAK3 signaling pathway as a model
    • Notarangelo L.D., Giliani S., Mazza C., Mella P., Savoldi G., Rodriguez-Perez C., et al. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency defects of the gamma(c)-JAK3 signaling pathway as a model . Immunol. Rev. 178:2000;39-48.
    • (2000) Immunol. Rev. , vol.178 , pp. 39-48
    • Notarangelo, L.D.1    Giliani, S.2    Mazza, C.3    Mella, P.4    Savoldi, G.5    Rodriguez-Perez, C.6
  • 49
    • 0031740732 scopus 로고    scopus 로고
    • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency
    • Puel A., Ziegler S.F., Buckley R.H., Leonard W.J. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat. Genet. 20:1998;394-397.
    • (1998) Nat. Genet. , vol.20 , pp. 394-397
    • Puel, A.1    Ziegler, S.F.2    Buckley, R.H.3    Leonard, W.J.4
  • 50
    • 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 C.M., 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. 96:2000;2803-2807.
    • (2000) Blood , vol.96 , pp. 2803-2807
    • Roifman, C.M.1    Zhang, J.2    Chitayat, D.3    Sharfe, N.4
  • 51
    • 0000930996 scopus 로고    scopus 로고
    • Immunodeficiency disease due to deficiency of adenosine deaminase
    • H.D. Ochs, C.I.E. Smith, & J.M. Puck. New York: Oxford Univ. Press
    • Hirschorn R. Immunodeficiency disease due to deficiency of adenosine deaminase. Ochs H.D., Smith C.I.E., Puck J.M. Primary Immunodeficiency Diseases. 1999;121-139 Oxford Univ. Press, New York.
    • (1999) Primary Immunodeficiency Diseases , pp. 121-139
    • Hirschorn, R.1
  • 52
    • 0025785602 scopus 로고
    • Purine nucleoside phosphorylase deficiency
    • Markert M.L. Purine nucleoside phosphorylase deficiency. Immunodef. Rev. 3:1991;45-81.
    • (1991) Immunodef. Rev. , vol.3 , pp. 45-81
    • Markert, M.L.1
  • 55
    • 0035161258 scopus 로고    scopus 로고
    • V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical manifestations
    • Villa A., Sobacchi C., Notarangelo L.D., Bozzi F., Abinun M., Abrahamsen T.G., et al. V(D)J recombination defects in lymphocytes due to RAG mutations severe immunodeficiency with a spectrum of clinical manifestations . Blood. 97:2001;81-88.
    • (2001) Blood , vol.97 , pp. 81-88
    • Villa, A.1    Sobacchi, C.2    Notarangelo, L.D.3    Bozzi, F.4    Abinun, M.5    Abrahamsen, T.G.6
  • 56
    • 0032910344 scopus 로고    scopus 로고
    • T-cell receptor analysis in Omenn's syndrome: Evidence for defects in gene rearrangement and assembly
    • Brooks E.G., Filipovich A.H., Padgett J.W., Mamlock R., Goldblum R.M. T-cell receptor analysis in Omenn's syndrome evidence for defects in gene rearrangement and assembly . Blood. 93:1999;242-250.
    • (1999) Blood , vol.93 , pp. 242-250
    • Brooks, E.G.1    Filipovich, A.H.2    Padgett, J.W.3    Mamlock, R.4    Goldblum, R.M.5
  • 57
    • 0035917489 scopus 로고    scopus 로고
    • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immunodeficiency
    • Moshous D., Callebut I., de Chasseval R., Corneo B., Cavazzana-Calvo M., Le Deist F., et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immunodeficiency. Cell. 105:2001;177-186.
    • (2001) Cell , vol.105 , pp. 177-186
    • Moshous, D.1    Callebut, I.2    De Chasseval, R.3    Corneo, B.4    Cavazzana-Calvo, M.5    Le Deist, F.6
  • 58
    • 0032541313 scopus 로고    scopus 로고
    • A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiation and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency
    • Nicolas N., Moshous D., Cavazzana-Calvo M., Papadopoulo D., de Chasseval R., Le Deist F., et al. A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiation and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. J. Exp. Med. 188:1998;627-634.
    • (1998) J. Exp. Med. , vol.188 , pp. 627-634
    • Nicolas, N.1    Moshous, D.2    Cavazzana-Calvo, M.3    Papadopoulo, D.4    De Chasseval, R.5    Le Deist, F.6
  • 59
    • 0032782695 scopus 로고    scopus 로고
    • Oral and genital ulceration: A unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency
    • Kwong P.C., O'Marcaigh A.S., Howard R., Cowan M.J., Frieden I.J. Oral and genital ulceration a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency . Arch. Dermatol. 135:1999;927-931.
    • (1999) Arch. Dermatol. , vol.135 , pp. 927-931
    • Kwong, P.C.1    O'Marcaigh, A.S.2    Howard, R.3    Cowan, M.J.4    Frieden, I.J.5
  • 62
    • 0026729150 scopus 로고
    • Brief report: Primary immunodeficiency caused by mutations in the gene encoding the CD3-g subunit of the T lymphocyte receptor
    • Amaiz-Villena A., Timon M., Correll A., Perez-Aciego P., Martin-Villa J.M., Regueiro J.R. Brief report primary immunodeficiency caused by mutations in the gene encoding the CD3-g subunit of the T lymphocyte receptor . N. Engl. J. Med. 327:1992;529-533.
    • (1992) N. Engl. J. Med. , vol.327 , pp. 529-533
    • Amaiz-Villena, A.1    Timon, M.2    Correll, A.3    Perez-Aciego, P.4    Martin-Villa, J.M.5    Regueiro, J.R.6
  • 63
    • 0029875067 scopus 로고    scopus 로고
    • Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70
    • Elder M.E. Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70. Pediatr. Res. 39:1996;743-748.
    • (1996) Pediatr. Res. , vol.39 , pp. 743-748
    • Elder, M.E.1
  • 67
    • 0029075521 scopus 로고
    • Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency
    • Zhou H., Glimcher L.H. Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency. Immunity. 2:1995;545-553.
    • (1995) Immunity , vol.2 , pp. 545-553
    • Zhou, H.1    Glimcher, L.H.2
  • 68
    • 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., Conrad B., Corthals G., Aebersold R., et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat. Genet. 20:1998;273-277.
    • (1998) Nat. Genet. , vol.20 , pp. 273-277
    • Masternak, K.1    Barras, E.2    Zufferey, M.3    Conrad, B.4    Corthals, G.5    Aebersold, R.6
  • 69
    • 11944266638 scopus 로고
    • A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
    • Steimle V., Durand B., Barras E., Zufferey M., Hadam M.R., Mach B., et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 9:1995;1021-1032.
    • (1995) Genes Dev. , vol.9 , pp. 1021-1032
    • Steimle, V.1    Durand, B.2    Barras, E.3    Zufferey, M.4    Hadam, M.R.5    Mach, B.6
  • 70
    • 0035064073 scopus 로고    scopus 로고
    • The bare lymphocyte syndrome and the regulation of MHC expression
    • Reith W., Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu. Rev. Immunol. 19:2001;331-373.
    • (2001) Annu. Rev. Immunol. , vol.19 , pp. 331-373
    • Reith, W.1    Mach, B.2
  • 73
    • 0036158322 scopus 로고    scopus 로고
    • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds
    • Picard C., Fieschi C., Altare F., Al-Jumaah S., Al-Hajjar S., Feinberg J., et al. Inherited interleukin-12 deficiency IL12B genotype and clinical phenotype of 13 patients from six kindreds . Am. J. Hum. Genet. 70:2002;336-348.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 336-348
    • Picard, C.1    Fieschi, C.2    Altare, F.3    Al-Jumaah, S.4    Al-Hajjar, S.5    Feinberg, J.6
  • 74
    • 0032103249 scopus 로고    scopus 로고
    • Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
    • Dorman S.E., Holland S.M. Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. J. Clin. Invest. 101:1998;2364-2369.
    • (1998) J. Clin. Invest. , vol.101 , pp. 2364-2369
    • Dorman, S.E.1    Holland, S.M.2
  • 75
    • 0035469239 scopus 로고    scopus 로고
    • DiGeorge syndrome/chromosome 22q11 deletion syndrome
    • Sullivan K.E. DiGeorge syndrome/chromosome 22q11 deletion syndrome. Curr. Allergy Asthma Rep. 1:2001;438-444.
    • (2001) Curr. Allergy Asthma Rep. , vol.1 , pp. 438-444
    • Sullivan, K.E.1
  • 76
    • 0034033859 scopus 로고    scopus 로고
    • DiGeorge anomaly: A comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization
    • Kornfeld S.J., Zeffren B., Christodoulou C.S., Day N.K., Cawkwell G.G., Good R.A. DiGeorge anomaly a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization . J. Allergy Clin. Immunol. 105:2000;983-987.
    • (2000) J. Allergy Clin. Immunol. , vol.105 , pp. 983-987
    • Kornfeld, S.J.1    Zeffren, B.2    Christodoulou, C.S.3    Day, N.K.4    Cawkwell, G.G.5    Good, R.A.6
  • 77
    • 0035196580 scopus 로고    scopus 로고
    • Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    • Jawad A.F., McDonald-Mcginn D.M., Zackai E., Sullivan K.E. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome). J. Pediatr. 139:2001;715-723.
    • (2001) J. Pediatr. , vol.139 , pp. 715-723
    • Jawad, A.F.1    McDonald-Mcginn, D.M.2    Zackai, E.3    Sullivan, K.E.4
  • 78
    • 0000845691 scopus 로고    scopus 로고
    • DiGeorge syndrome: A chromosome 22q11.2 deletion syndrome
    • H.D. Ochs, C.I.E. Smith, & J.M. Puck. New York: Oxford Univ. Press
    • Driscoll D.A., Sullivan K.E. DiGeorge syndrome a chromosome 22q11.2 deletion syndrome . Ochs H.D., Smith C.I.E., Puck J.M. Primary Immunodeficiency Diseases. 1999;198-208 Oxford Univ. Press, New York.
    • (1999) Primary Immunodeficiency Diseases , pp. 198-208
    • Driscoll, D.A.1    Sullivan, K.E.2
  • 81
    • 0035480006 scopus 로고    scopus 로고
    • Human genetic defects in class-switch recombination (hyper-IgM syndromes)
    • Durandy A., Honjo T. Human genetic defects in class-switch recombination (hyper-IgM syndromes). Curr. Opin. Immunol. 12:2001;543-548.
    • (2001) Curr. Opin. Immunol. , vol.12 , pp. 543-548
    • Durandy, A.1    Honjo, T.2
  • 82
    • 0031567974 scopus 로고    scopus 로고
    • Holangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM
    • Hayward A.R., Levy L., Facchetti F., Notarangelo L., Ochs H.D.H.D., Etzioni A., et al. holangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J. Immunol. 158:1997;977-983.
    • (1997) J. Immunol. , vol.158 , pp. 977-983
    • Hayward, A.R.1    Levy, L.2    Facchetti, F.3    Notarangelo, L.4    Ochs, H.D.H.D.5    Etzioni, A.6
  • 84
    • 0035286726 scopus 로고    scopus 로고
    • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
    • Jain A., Ma C.A., Liu S., Brown M., Cohen J., Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat. Immunol. 2:2001;223-228.
    • (2001) Nat. Immunol. , vol.2 , pp. 223-228
    • Jain, A.1    Ma, C.A.2    Liu, S.3    Brown, M.4    Cohen, J.5    Strober, W.6
  • 86
    • 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-gamma (NEMO)
    • Zonana J., Elder M.E., Schneider L.C., Orlow S.J., Moss C., Golabi M., 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-gamma (NEMO). Am. J. Hum. Genet. 67:2000;1555-1562.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1555-1562
    • Zonana, J.1    Elder, M.E.2    Schneider, L.C.3    Orlow, S.J.4    Moss, C.5    Golabi, M.6
  • 87
    • 0034771886 scopus 로고    scopus 로고
    • A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
    • Aradhya S., Woffendin H., Jakins T., Bardaro T., Esposito T., Smahi A., et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum. Mol. Genet. 10:2001;2171-2179.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2171-2179
    • Aradhya, S.1    Woffendin, H.2    Jakins, T.3    Bardaro, T.4    Esposito, T.5    Smahi, A.6
  • 88
    • 0001413864 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • H.D. Ochs, C.I.E. Smith, & J.M. Puck. New York: Oxford Univ. Press
    • Ochs H.D., Rosen F.S. The Wiskott-Aldrich syndrome. Ochs H.D., Smith C.I.E., Puck J.M. Primary Immunodeficiency Diseases. 1999;292-305 Oxford Univ. Press, New York.
    • (1999) Primary Immunodeficiency Diseases , pp. 292-305
    • Ochs, H.D.1    Rosen, F.S.2
  • 89
    • 0036252130 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • Ochs H.D. The Wiskott-Aldrich syndrome. Isr. Med. Assoc. J. 4:2002;379-384.
    • (2002) Isr. Med. Assoc. J. , vol.4 , pp. 379-384
    • Ochs, H.D.1
  • 90
    • 0030006284 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
    • Symons M., Derry J.M., Karlak B., Jiang S., Lemahieu V., Mccormick F., et al. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell. 84:1996;723-734.
    • (1996) Cell , vol.84 , pp. 723-734
    • Symons, M.1    Derry, J.M.2    Karlak, B.3    Jiang, S.4    Lemahieu, V.5    Mccormick, F.6
  • 91
    • 0033012399 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome protein (WASP): Roles in signaling and cytoskeletal organization
    • Snapper S.B., Rosen F.S. The Wiskott-Aldrich syndrome protein (WASP) roles in signaling and cytoskeletal organization . Annu. Rev. Immunol. 17:1999;905-929.
    • (1999) Annu. Rev. Immunol. , vol.17 , pp. 905-929
    • Snapper, S.B.1    Rosen, F.S.2
  • 92
    • 0035174959 scopus 로고    scopus 로고
    • The interaction between Cdc42 and WASP is required for SDF-1-induced T-lymphocyte chemotaxis
    • Haddad E., Zugaza J.L., Louache F., Debili N., Crouin C., Schwarz K., et al. The interaction between Cdc42 and WASP is required for SDF-1-induced T-lymphocyte chemotaxis. Blood. 97:2001;33-38.
    • (2001) Blood , vol.97 , pp. 33-38
    • Haddad, E.1    Zugaza, J.L.2    Louache, F.3    Debili, N.4    Crouin, C.5    Schwarz, K.6
  • 93
    • 0028786330 scopus 로고
    • The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene
    • Zhu Q., Zhang M., Blaese R.M., Derry J.M., Junker A., Francke U., et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood. 86:1995;3797-3804.
    • (1995) Blood , vol.86 , pp. 3797-3804
    • Zhu, Q.1    Zhang, M.2    Blaese, R.M.3    Derry, J.M.4    Junker, A.5    Francke, U.6
  • 94
  • 95
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
    • Zhu Q., Watanabe C., Liu T., Hollenbaugh D., Blaese R.M., Kanner S.B., et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia WASP gene mutations, protein expression, and phenotype . Blood. 90:1997;2680-2689.
    • (1997) Blood , vol.90 , pp. 2680-2689
    • Zhu, Q.1    Watanabe, C.2    Liu, T.3    Hollenbaugh, D.4    Blaese, R.M.5    Kanner, S.B.6
  • 96
    • 0035869537 scopus 로고    scopus 로고
    • Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program
    • C.J.
    • A.H. Filipovich, J.V. Stone, S.C. Tomany, M. Ireland, C. Kollman C., C.J. Pelz C.J., et al., Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program, Blood 97 (2001) 1598-1603.
    • (2001) Blood , vol.97 , pp. 1598-1603
    • Filipovich, A.H.1    Stone, J.V.2    Tomany, S.C.3    Ireland, M.4    Kollman, C.5    Pelz, C.J.6
  • 97
    • 0034536284 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: A human disorder of abnormal lymphocyte survival
    • T.A. Fleisher, & M. Ballow. Philadelphia: Saunders
    • Bleesing J.J.H., Strauss S.E., Fleisher T.A. Autoimmune lymphoproliferative syndrome a human disorder of abnormal lymphocyte survival . Fleisher T.A., Ballow M. Pediatric Clinics of North America. 2000;1291-1310 Saunders, Philadelphia.
    • (2000) Pediatric Clinics of North America , pp. 1291-1310
    • Bleesing, J.J.H.1    Strauss, S.E.2    Fleisher, T.A.3
  • 98
    • 0036317579 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: A genetic disorder of abnormal lymphocyte apoptosis
    • K.E. Sullivan, & J.M. Spergel. Philadelphia: Saunders
    • Bleesing J.J.H. Autoimmune lymphoproliferative syndrome a genetic disorder of abnormal lymphocyte apoptosis . Sullivan K.E., Spergel J.M. Immunology and Allergy Clinics of North America. 2002;339-355 Saunders, Philadelphia.
    • (2002) Immunology and Allergy Clinics of North America , pp. 339-355
    • Bleesing, J.J.H.1
  • 99
    • 0029025441 scopus 로고
    • Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
    • Fisher G.H., Rosenberg F.J., Straus S.E., Dale J.K., Middleton L.A., Lin A.Y., et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 81:1995;935-946.
    • (1995) Cell , vol.81 , pp. 935-946
    • Fisher, G.H.1    Rosenberg, F.J.2    Straus, S.E.3    Dale, J.K.4    Middleton, L.A.5    Lin, A.Y.6
  • 100
    • 0031797465 scopus 로고    scopus 로고
    • The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis
    • Infante A.J., Britton H.A., DeNapoli T., Middelton L.A., Lenardo M.J., Jackson C.E., et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J. Pediatr. 133:1998;629-633.
    • (1998) J. Pediatr. , vol.133 , pp. 629-633
    • Infante, A.J.1    Britton, H.A.2    DeNapoli, T.3    Middelton, L.A.4    Lenardo, M.J.5    Jackson, C.E.6
  • 101
    • 0033361766 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance
    • Jackson C.E., Fischer R.E., Hsu A.P., Anderson S.M., Choi Y., Wang J., et al. Autoimmune lymphoproliferative syndrome with defective Fas genotype influences penetrance . Am. J. Hum. Genet. 64:1999;1002-1014.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1002-1014
    • Jackson, C.E.1    Fischer, R.E.2    Hsu, A.P.3    Anderson, S.M.4    Choi, Y.5    Wang, J.6
  • 102
    • 0345059209 scopus 로고    scopus 로고
    • An inherited disorder of lymphocyte apoptosis: The autoimmune lymphoproliferative syndrome
    • Straus S.E., Sneller M., Lenardo M.J., Puck J.M., Strober W. An inherited disorder of lymphocyte apoptosis the autoimmune lymphoproliferative syndrome . Ann. Intern. Med. 130:1999;591-601.
    • (1999) Ann. Intern. Med. , vol.130 , pp. 591-601
    • Straus, S.E.1    Sneller, M.2    Lenardo, M.J.3    Puck, J.M.4    Strober, W.5
  • 104
    • 0016772968 scopus 로고
    • X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
    • Purtilo D.T., Cassel C.K., Yang J.P., Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1:1975;935-940.
    • (1975) Lancet , vol.1 , pp. 935-940
    • Purtilo, D.T.1    Cassel, C.K.2    Yang, J.P.3    Harper, R.4
  • 106
    • 0035063939 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease: A progressive immunodeficiency
    • Morra M., Howie D., Grande M.S., Sayos J., Wang N., Wu C., et al. X-linked lymphoproliferative disease a progressive immunodeficiency . Annu. Rev. Immunol. 19:2001;657-682.
    • (2001) Annu. Rev. Immunol. , vol.19 , pp. 657-682
    • Morra, M.1    Howie, D.2    Grande, M.S.3    Sayos, J.4    Wang, N.5    Wu, C.6
  • 107
    • 0036317446 scopus 로고    scopus 로고
    • X-linked lymphoproliferative disease
    • K.E. Sullivan, & J.M. Spergel. Philadelphia: Saunders
    • Nichols K.E., Gross T.G. X-linked lymphoproliferative disease. Sullivan K.E., Spergel J.M. Immunology and Allergy Clinics of North America. 2002;319-337 Saunders, Philadelphia.
    • (2002) Immunology and Allergy Clinics of North America , pp. 319-337
    • Nichols, K.E.1    Gross, T.G.2
  • 108
    • 0032190081 scopus 로고    scopus 로고
    • The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
    • Sayos J., Wu C., Morra M., Wang N., Zhang X., Allen D., et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 395:1998;462-469.
    • (1998) Nature , vol.395 , pp. 462-469
    • Sayos, J.1    Wu, C.2    Morra, M.3    Wang, N.4    Zhang, X.5    Allen, D.6
  • 109
    • 0033814931 scopus 로고    scopus 로고
    • SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines
    • Nagy N., Cerboni C., Mattsson K., Maeda A., Gogolak P., Sumegi J., et al. SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines. Int. J. Cancer. 88:2000;439-447.
    • (2000) Int. J. Cancer , vol.88 , pp. 439-447
    • Nagy, N.1    Cerboni, C.2    Mattsson, K.3    Maeda, A.4    Gogolak, P.5    Sumegi, J.6
  • 110
    • 0034664724 scopus 로고    scopus 로고
    • Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome
    • Tangye S.G., Phillips J.H., Lanier L.L., Nichols K.E. Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. J. Immunol. 165:2000;2932-2936.
    • (2000) J. Immunol. , vol.165 , pp. 2932-2936
    • Tangye, S.G.1    Phillips, J.H.2    Lanier, L.L.3    Nichols, K.E.4
  • 111
    • 0029947122 scopus 로고    scopus 로고
    • Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): Report from the XLP registry
    • Gross T.G., Filipovich A.H., Conley M.E., Pracher E., Schmiegelow K., Verdirame J.D., et al. Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT) report from the XLP registry . Bone Marrow Transplant. 17:1996;741-744.
    • (1996) Bone Marrow Transplant , vol.17 , pp. 741-744
    • Gross, T.G.1    Filipovich, A.H.2    Conley, M.E.3    Pracher, E.4    Schmiegelow, K.5    Verdirame, J.D.6
  • 112
    • 0028064998 scopus 로고
    • An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type 1 assigned to chromosome 21
    • Aaltonen J., Bjorses P., Sandkuijl L., Perheentupa J., Peltonen L. An autosomal locus causing autoimmune disease autoimmune polyglandular disease type 1 assigned to chromosome 21 . Nat. Genet. 8:1994;83-87.
    • (1994) Nat. Genet. , vol.8 , pp. 83-87
    • Aaltonen, J.1    Bjorses, P.2    Sandkuijl, L.3    Perheentupa, J.4    Peltonen, L.5
  • 113
    • 0032920890 scopus 로고    scopus 로고
    • Cloning of the APECED gene provides new insight into human autoimmunity
    • Aaltonen J., Bjorses P. Cloning of the APECED gene provides new insight into human autoimmunity. Ann. Med. 31:1999;111-116.
    • (1999) Ann. Med. , vol.31 , pp. 111-116
    • Aaltonen, J.1    Bjorses, P.2
  • 114
    • 0242536432 scopus 로고    scopus 로고
    • Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy protein
    • Bjorses P., Halonen M., Palvimo J.J., Kolmer M., Aaltonen J., Ellonen P., Perheentupa J., Ulmanen I., Peltonen L. Mutations in the AIRE gene effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein . Am. J. Hum. Genet. 66:2000;378-392.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 378-392
    • Bjorses, P.1    Halonen, M.2    Palvimo, J.J.3    Kolmer, M.4    Aaltonen, J.5    Ellonen, P.6    Perheentupa, J.7    Ulmanen, I.8    Peltonen, L.9
  • 115
    • 0035124908 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis
    • Kirkpatrick C.H. Chronic mucocutaneous candidiasis. Pediatr. Infect. Dis. J. 20:2001;197-206.
    • (2001) Pediatr. Infect. Dis. J. , vol.20 , pp. 197-206
    • Kirkpatrick, C.H.1
  • 116
    • 0036221260 scopus 로고    scopus 로고
    • New perspectives on the immunology of chronic mucocutaneous candidiasis
    • Lilic D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Curr. Opin. Infect. Dis. 15:2002;143-147.
    • (2002) Curr. Opin. Infect. Dis. , vol.15 , pp. 143-147
    • Lilic, D.1
  • 117
  • 118
    • 0035675798 scopus 로고    scopus 로고
    • IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
    • Bennett C.L., Ochs H.D. IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr. Opin. Pediatr. 13:2001;533-538.
    • (2001) Curr. Opin. Pediatr. , vol.13 , pp. 533-538
    • Bennett, C.L.1    Ochs, H.D.2
  • 119
    • 0036317667 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and the scurfy mutant mouse
    • K.E. Sullivan, & J.M. Spergel. Philadelphia: Saunders
    • Ochs H.D., Khattri R., Bennett C.L., Brunkow M.E. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and the scurfy mutant mouse. Sullivan K.E., Spergel J.M. Immunology and Allergy Clinics of North America. 2002;357-368 Saunders, Philadelphia.
    • (2002) Immunology and Allergy Clinics of North America , pp. 357-368
    • Ochs, H.D.1    Khattri, R.2    Bennett, C.L.3    Brunkow, M.E.4
  • 120
    • 0035821985 scopus 로고    scopus 로고
    • Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
    • Baud O., Goulet O., Canioni D., Le Deist F., Radford I., Rieu D., et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N. Engl. J. Med. 344:2001;1758-1762.
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1758-1762
    • Baud, O.1    Goulet, O.2    Canioni, D.3    Le Deist, F.4    Radford, I.5    Rieu, D.6
  • 122
    • 0033179360 scopus 로고    scopus 로고
    • Chromosomal breakage syndromes
    • Carney J.P. Chromosomal breakage syndromes. Curr. Opin. Immunol. 11:1999;443-447.
    • (1999) Curr. Opin. Immunol. , vol.11 , pp. 443-447
    • Carney, J.P.1
  • 123
    • 0037202152 scopus 로고    scopus 로고
    • Chromosome breakage syndromes and cancer
    • Duker N.J. Chromosome breakage syndromes and cancer. Am. J. Med. Genet. 115:2002;125-129.
    • (2002) Am. J. Med. Genet. , vol.115 , pp. 125-129
    • Duker, N.J.1
  • 124
    • 0002799923 scopus 로고    scopus 로고
    • Ataxia-telangiectasia
    • H.D. Ochs, C.I.E. Smith, & J.M. Puck. New York: Oxford Univ. Press
    • Lavin M.F., Shiloh Y. Ataxia-telangiectasia. Ochs H.D., Smith C.I.E., Puck J.M. Primary Immunodeficiency Diseases. 1999;306-323 Oxford Univ. Press, New York.
    • (1999) Primary Immunodeficiency Diseases , pp. 306-323
    • Lavin, M.F.1    Shiloh, Y.2
  • 125
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 268:1995;1749-1755.
    • (1995) Science , vol.268 , pp. 1749-1755
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3    Rotman, G.4    Ziv, Y.5    Vanagaite, L.6
  • 126
    • 0033021504 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene
    • Meyn M.S. Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Clin. Genet. 55:1999;289-304.
    • (1999) Clin. Genet. , vol.55 , pp. 289-304
    • Meyn, M.S.1
  • 127
    • 0031729512 scopus 로고    scopus 로고
    • Treatment of lymphoid malignancies in patients with ataxia-telangiectasia
    • Sandoval C., Swift M. Treatment of lymphoid malignancies in patients with ataxia-telangiectasia. Med. Pediatr. Oncol. 31:1998;491-497.
    • (1998) Med. Pediatr. Oncol. , vol.31 , pp. 491-497
    • Sandoval, C.1    Swift, M.2
  • 128
    • 0000770165 scopus 로고    scopus 로고
    • Nijmegen breakage syndrome
    • Nijmegen breakage syndrome. Arch. Dis. Child. 82:2000;400-406.
    • (2000) Arch. Dis. Child. , vol.82 , pp. 400-406
  • 129
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    • Varon R., Vissinga C., Platzer M., Cerosaletti K.M., Chrzanowska K.H., Saar K., et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 93:1998;467-476.
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1    Vissinga, C.2    Platzer, M.3    Cerosaletti, K.M.4    Chrzanowska, K.H.5    Saar, K.6
  • 130
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney J.P., Maser R.S., Olivares H., Davis E.M., Le Beau M., Yates J.R. 3rd, et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome linkage of double-strand break repair to the cellular DNA damage response . Cell. 93:1998;477-486.
    • (1998) Cell , vol.93 , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3    Davis, E.M.4    Le Beau, M.5    Yates III, J.R.6
  • 131
    • 0034713466 scopus 로고    scopus 로고
    • ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response
    • Wu X., Ranganathan V., Weisman D.S., Heine W.F., Ciccone D.N., O'Neill T.B., et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature. 405:2000;477-482.
    • (2000) Nature , vol.405 , pp. 477-482
    • Wu, X.1    Ranganathan, V.2    Weisman, D.S.3    Heine, W.F.4    Ciccone, D.N.5    O'Neill, T.B.6


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