메뉴 건너뛰기




Volumn 130, Issue 6, 2012, Pages 1426-1428

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)

Author keywords

[No Author keywords available]

Indexed keywords

AMPHOTERICIN B; ANTIBIOTIC AGENT; CEFUROXIME; IMMUNOGLOBULIN E; STAT3 PROTEIN;

EID: 84870301013     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.07.030     Document Type: Article
Times cited : (7)

References (11)
  • 2
    • 34548317417 scopus 로고    scopus 로고
    • Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
    • Y. Minegishi, M. Saito, S. Tsuchiya, I. Tsuge, H. Takada, and T. Hara Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome Nature 448 2007 1058 1062
    • (2007) Nature , vol.448 , pp. 1058-1062
    • Minegishi, Y.1    Saito, M.2    Tsuchiya, S.3    Tsuge, I.4    Takada, H.5    Hara, T.6
  • 4
    • 77956368467 scopus 로고    scopus 로고
    • Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
    • e1
    • L.F. Schimke, J. Sawalle-Belohradsky, J. Roesler, A. Wollenberg, A. Rack, and M. Borte Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis J Allergy Clin Immunol 126 2010 611 617 e1
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 611-617
    • Schimke, L.F.1    Sawalle-Belohradsky, J.2    Roesler, J.3    Wollenberg, A.4    Rack, A.5    Borte, M.6
  • 6
    • 41449110468 scopus 로고    scopus 로고
    • Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
    • J.D. Milner, J.M. Brenchley, A. Laurence, A.F. Freeman, B.J. Hill, and K.M. Elias Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome Nature 452 2008 773 776
    • (2008) Nature , vol.452 , pp. 773-776
    • Milner, J.D.1    Brenchley, J.M.2    Laurence, A.3    Freeman, A.F.4    Hill, B.J.5    Elias, K.M.6
  • 7
    • 0031946632 scopus 로고    scopus 로고
    • Germ line mosaicism
    • J. Zlotogora Germ line mosaicism Hum Genet 102 1998 381 386
    • (1998) Hum Genet , vol.102 , pp. 381-386
    • Zlotogora, J.1
  • 9
    • 0028847795 scopus 로고
    • Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency
    • J.M. Puck, A.E. Pepper, P.M. Bedard, and R. Laframboise Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency J Clin Invest 95 1995 895 899
    • (1995) J Clin Invest , vol.95 , pp. 895-899
    • Puck, J.M.1    Pepper, A.E.2    Bedard, P.M.3    Laframboise, R.4
  • 11
    • 77955122507 scopus 로고    scopus 로고
    • Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: Evidence for phenotype determination by modifying genes
    • P.E. Newburger, T.N. Pindyck, Z. Zhu, A.A. Bolyard, A.A. Aprikyan, and D.C. Dale Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes Pediatr Blood Cancer 55 2010 314 317
    • (2010) Pediatr Blood Cancer , vol.55 , pp. 314-317
    • Newburger, P.E.1    Pindyck, T.N.2    Zhu, Z.3    Bolyard, A.A.4    Aprikyan, A.A.5    Dale, D.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.