title: Genetic immunodeficiencies: cutaneous manifestations and recent progress.
abstract: In recent years, remarkable progress has been made in elucidating the pathophysiology of genetic immunodeficiency disorders. Dermatologic manifestations are prominent in these conditions; because of advances in diagnosis and therapy, patients are living longer, increasing the likelihood that dermatologists will encounter patients with these diseases. The genes of many of these disorders have been cloned, including chronic granulomatous disease, X-linked immunodeficiencies, and myeloperoxidase deficiency. Understanding the regulation and function of these genes will not only affect patients with these rare disorders, but may provide an insight into common dermatologic conditions, such as eczema and cutaneous infection. Diagnosis, dermatologic manifestations, and therapy are discussed.
authors.affiliation: Department of Dermatology, Massachusetts General Hospital, Boston, MA 02114, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Arbiser
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D001260:Ataxia Telangiectasia / Q000235:genetics; D001816:Bloom Syndrome / Q000235:genetics; D002609:Chediak-Higashi Syndrome; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic; D006801:Humans; D007075:Immunoglobulin M; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009195:Peroxidase / Q000172:deficiency; D012871:Skin Diseases / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics; D014960:X Chromosome
chemical_list: D007075:Immunoglobulin M; D009195:Peroxidase