Autosomal-dominant primary immunodeficiencies
| Autor: | Janine Reichenbach, Jean-Laurent Casanova, Cheng-Lung Ku, Ouachée M, Tatiana Lawrence, Ellen D. Renner, Anne Puel, Minard-Colin, Ariane Chapgier |
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| Rok vydání: | 2004 |
| Předmět: |
Genetics
Myelokathexis Isolated congenital asplenia Immunologic Deficiency Syndromes Autosomal dominant trait Hematology Biology medicine.disease Hypogammaglobulinemia Phenotype Immunology Mutation medicine Humans Chronic mucocutaneous candidiasis Congenital Neutropenia Immunodeficiency WHIM syndrome Genes Dominant |
| Zdroj: | Current opinion in hematology. 12(1) |
| ISSN: | 1065-6251 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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