X-linked immunodeficiencies.
Recent advances in molecular genetics have allowed identification of at least seven genes involved in X-linked immunodeficiencies. This has resulted not only in improved diagnostic possibilities but also in a better understanding of the pathophysiology of these disorders. In some cases, mutations in the same gene have been shown to cause distinct clinical and immunologic phenotypes, demonstrating a strong genotype-phenotype correlation. Identification of the molecular basis of these diseases has permitted creation of disease-specific registries, with a better characterization of the clinical and immunologic features associated with the various forms of X-linked immunodeficiencies. Additionally, gene therapy has been attempted in X-linked severe combined immune deficiency (XSCID), with clear evidence of successful correction of the pathology, and the appearance of severe adverse effects.
Department of Pediatrics, University of Washington, Children's Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA. allgau@u.washington.edu
Hans D
HD
Ochs
Luigi D
LD
Notarangelo
D000361:Agammaglobulinemia / Q000235:genetics; D023201:CD40 Ligand; D004476:Ectodermal Dysplasia / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000276:immunology*; D005838:Genotype; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008232:Lymphoproliferative Disorders / Q000235:genetics; D009154:Mutation; D016328:NF-kappa B / Q000235:genetics; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics; D011504:Protein-Losing Enteropathies / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics
D016328:NF-kappa B; D023201:CD40 Ligand