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Autosomal-dominant primary immunodeficiencies.
Lawrence, Tatiana; Puel, Anne; Reichenbach, Janine; Ku, Cheng-Lung; Chapgier, Ariane; Renner, Ellen; Minard-Colin, Véronique; Ouachée, Marie; Casanova, Jean-Laurent.
Afiliación
  • Lawrence T; Laboratory of Human Genetics of Infectious Diseases, University of Paris, René Descartes INSERM U550, Paris, France.
Curr Opin Hematol ; 12(1): 22-30, 2005 Jan.
Article en En | MEDLINE | ID: mdl-15604887
ABSTRACT
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE syndrome. The large deletions on chromosome 22q11.2 associated with Di George syndrome suggest that this disease may be dominant but not Mendelian, possibly involving several genes. The clinical and genetic features of six novel autosomal-dominant primary immunodeficiencies have however been described in recent years. These primary immunodeficiencies are caused by germline mutations in seven genes ELA2, encoding a neutrophil elastase, and GFI1, encoding a regulator of ELA2 (mutations associated with severe congenital neutropenia); CXCR4, encoding a chemokine receptor (warts, hypogammaglobulinemia, infections and myelokathexis syndrome); LCRR8, encoding a key protein for B-cell development (agammaglobulinemia); IFNGR1, encoding the ligand-binding chain of the interferon-gamma receptor; STAT1, encoding the signal transducer and activator of transcription 1 downstream from interferon-gammaR1 (Mendelian susceptibility to mycobacterial diseases); and IKBA, encoding IkappaBalpha, the inhibitor alpha of NF-kappaB (anhidrotic ectodermal dysplasia with immunodeficiency). These recent data suggest that many more autosomal-dominant PIDs are likely to be identified in the near future.
Asunto(s)
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Banco de datos: MEDLINE Asunto principal: Genes Dominantes / Síndromes de Inmunodeficiencia Límite: Humans Idioma: En Año: 2005 Tipo del documento: Article
Buscar en Google
Banco de datos: MEDLINE Asunto principal: Genes Dominantes / Síndromes de Inmunodeficiencia Límite: Humans Idioma: En Año: 2005 Tipo del documento: Article