메뉴 건너뛰기




Volumn 96, Issue 5, 2006, Pages 744-748

De novo mutation in the BTK of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BRUTON TYROSINE KINASE; CD3 ANTIGEN; CD4 ANTIGEN; CD57 ANTIGEN; CD8 ANTIGEN; COMPLEMENTARY DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

EID: 33646742843     PISSN: 10811206     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1081-1206(10)61075-7     Document Type: Article
Times cited : (15)

References (21)
  • 1
    • 33646739880 scopus 로고    scopus 로고
    • Antibody deficiencies
    • Ochs HD, Winkelstein JA, Stiehm ER, eds. Philadelphia, PA: Elsevier Saunders
    • Ochs HD, Winkelstein JA. Antibody deficiencies. In: Ochs HD, Winkelstein JA, Stiehm ER, eds. Immunologic Disorders in Infants & Children. 5th ed. Philadelphia, PA: Elsevier Saunders; 2004;357-369.
    • (2004) Immunologic Disorders in Infants & Children. 5th Ed. , pp. 357-369
    • Ochs, H.D.1    Winkelstein, J.A.2
  • 2
    • 0027441332 scopus 로고
    • The gene involved in X-linked agammaglobulinaerma is a member of the src family of protein-tyrosine kinase
    • Vetrie D, Vorechovsky I, Sideras P, et al. The gene involved in X-linked agammaglobulinaerma is a member of the src family of protein-tyrosine kinase. Nature. 1993;361:226-233.
    • (1993) Nature , vol.361 , pp. 226-233
    • Vetrie, D.1    Vorechovsky, I.2    Sideras, P.3
  • 3
    • 0021812632 scopus 로고
    • X-linked agammaglobulinemia: An analysis of 96 patients
    • Lederman HM, Winkelstein JA. X-linked agammaglobulinemia: an analysis of 96 patients. Medicine. 1985;64:145-156.
    • (1985) Medicine , vol.64 , pp. 145-156
    • Lederman, H.M.1    Winkelstein, J.A.2
  • 4
    • 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 1999;92:34-48.
    • (1999) Clin Immunol , vol.92 , pp. 34-48
    • Cunningham-Rundles, C.1    Bodian, C.2
  • 6
    • 0030475849 scopus 로고    scopus 로고
    • X-linked agammaglobulinemia: A clinical and molecular analysis
    • Ochs HD, Smith CI. X-linked agammaglobulinemia: a clinical and molecular analysis. Medicine. 1996;75:287-299.
    • (1996) Medicine , vol.75 , pp. 287-299
    • Ochs, H.D.1    Smith, C.I.2
  • 8
    • 18044399680 scopus 로고    scopus 로고
    • Recurrent bacteremia and multifocal lower limb cellulitis due to Helicobacter-Yike organisms in a patient with X-linked hypogammaglobulinemia
    • Gerrard J, Alfredson D, Smith I. Recurrent bacteremia and multifocal lower limb cellulitis due to Helicobacter-Yike organisms in a patient with X-linked hypogammaglobulinemia. Clin Infect Dis. 2001;33:116-118.
    • (2001) Clin Infect Dis , vol.33 , pp. 116-118
    • Gerrard, J.1    Alfredson, D.2    Smith, I.3
  • 9
    • 0033778350 scopus 로고    scopus 로고
    • Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/ Helicobacter species
    • Cuccherini B, Chua K, Gill V, et al. Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to Flexispira/Helicobacter species. Clin Immunol. 2000;97:121-129.
    • (2000) Clin Immunol , vol.97 , pp. 121-129
    • Cuccherini, B.1    Chua, K.2    Gill, V.3
  • 10
    • 3042543895 scopus 로고    scopus 로고
    • Relapsing cellulitis associated with Campylobacter coli bacteremia in an agammaglobulinemic patient
    • Tokuda K, Nishi J, Miyanohara H, et al. Relapsing cellulitis associated with Campylobacter coli bacteremia in an agammaglobulinemic patient. Pediatr Infect Dis J. 2004;23:577-579.
    • (2004) Pediatr Infect Dis J , vol.23 , pp. 577-579
    • Tokuda, K.1    Nishi, J.2    Miyanohara, H.3
  • 11
    • 0026478724 scopus 로고
    • Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia
    • Kerstens PJ, Endtz HP, Meis JF, et al. Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia. Eur J Clin Microbiol Infect Dis. 1992;11:842-847.
    • (1992) Eur J Clin Microbiol Infect Dis , vol.11 , pp. 842-847
    • Kerstens, P.J.1    Endtz, H.P.2    Meis, J.F.3
  • 12
    • 0022354222 scopus 로고
    • B cells in patients with X-linked agammaglobulinemia
    • Conley ME. B cells in patients with X-linked agammaglobulinemia. J Immunol. 1985;134:3070-3074.
    • (1985) J Immunol , vol.134 , pp. 3070-3074
    • Conley, M.E.1
  • 13
    • 0027538145 scopus 로고    scopus 로고
    • Primary hypogammaglobulinaemia: A survey of clinical manifestations and complications
    • Hermaszewski RA, Webster ADB. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med. 1996;86:31-42.
    • (1996) Q J Med , vol.86 , pp. 31-42
    • Hermaszewski, R.A.1    Webster, A.D.B.2
  • 14
    • 0034041626 scopus 로고    scopus 로고
    • Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
    • Kanegane H, Tsukada S, Iwata T, et al. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol. 2000;120:512-517.
    • (2000) Clin Exp Immunol , vol.120 , pp. 512-517
    • Kanegane, H.1    Tsukada, S.2    Iwata, T.3
  • 15
    • 0028359598 scopus 로고
    • A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia
    • Saffran DC, Parolini O, Fitch-Hilgenberg ME, et al. A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. N Engl J Med. 1994;330:1488-1491.
    • (1994) N Engl J Med , vol.330 , pp. 1488-1491
    • Saffran, D.C.1    Parolini, O.2    Fitch-Hilgenberg, M.E.3
  • 16
    • 0034125410 scopus 로고    scopus 로고
    • Kinase mutant BTK results in atypical X-linked agammaglobulinaemia phenotype
    • Caspar HB, Ferrando M, Caragol I, et al. Kinase mutant BTK results in atypical X-linked agammaglobulinaemia phenotype. Clin Exp Immunol. 2000;120:346-350.
    • (2000) Clin Exp Immunol , vol.120 , pp. 346-350
    • Caspar, H.B.1    Ferrando, M.2    Caragol, I.3
  • 17
    • 0029683324 scopus 로고    scopus 로고
    • X linked agammaglobulinaemia with a "leaky" phenotype
    • Jones A, Bradley L, Alterman L, et al. X linked agammaglobulinaemia with a "leaky" phenotype. Arch Dis Child. 1996;74:548-549.
    • (1996) Arch Dis Child , vol.74 , pp. 548-549
    • Jones, A.1    Bradley, L.2    Alterman, L.3
  • 18
    • 0035043904 scopus 로고    scopus 로고
    • A case of X-linked agammaglobulinemia diagnosed in adulthood
    • Stewart DM, Tian L, Nelson DL. A case of X-linked agammaglobulinemia diagnosed in adulthood. Clin Immunol. 2001;99:94-99.
    • (2001) Clin Immunol , vol.99 , pp. 94-99
    • Stewart, D.M.1    Tian, L.2    Nelson, D.L.3
  • 19
    • 0028925831 scopus 로고
    • X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy
    • Kornfeld SJ, Kratz J, Haire RN, et al. X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. J Allergy Clin Immunol. 1995;95:915-917.
    • (1995) J Allergy Clin Immunol , vol.95 , pp. 915-917
    • Kornfeld, S.J.1    Kratz, J.2    Haire, R.N.3
  • 20
    • 0026769737 scopus 로고
    • High vs. low dose immunoglobulin therapy in the long term treatment of X-linked agammaglobulinemia
    • Liese JG, Wintergerst U, Tympner KD, Belohradsky BH. High vs. low dose immunoglobulin therapy in the long term treatment of X-linked agammaglobulinemia. Am J Dis Child. 1992;146:335-339.
    • (1992) Am J Dis Child , vol.146 , pp. 335-339
    • Liese, J.G.1    Wintergerst, U.2    Tympner, K.D.3    Belohradsky, B.H.4
  • 21
    • 0033629351 scopus 로고    scopus 로고
    • Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients
    • Orlandi P, Ritis K, Moschese V, et al. Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. Hum Mutat. 2000;15:117.
    • (2000) Hum Mutat , vol.15 , pp. 117
    • Orlandi, P.1    Ritis, K.2    Moschese, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.