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.
Ochs
Hans D
HD
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
Notarangelo
Luigi D
LD
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