{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-183494/","orphanet_url":"https://www.orpha.net/en/disease/detail/183494","names":{"fr":{"name":"Déficit immunitaire génétique avec atteinte cutanée","synonyms":["Immunodéficience génétique avec atteinte cutanée"]},"de":{"name":"Immundefekt mit Hautbeteiligung, genetisch bedingt"},"es":{"name":"Inmunodeficiencia genética con afectación cutánea"},"it":{"name":"Immunodeficienza genetica con coinvolgimento cutaneo"},"nl":{"name":"Genetische immuundeficiëntie met betrokkenheid van huid"},"pt":{"name":"Deficiência imune genética com envolvimento da pele"},"pl":{"name":"Niedobór odporności uwarunkowany genetycznie z udziałem skóry"},"cs":{"name":"Geneticky podmíněné imunodeficity s postižením kůže"},"uk":{"name":"Генетично обумовлений імунодефіцит з ураженням шкіри"},"zh":{"name":"遗传性免疫缺陷伴皮肤受损"},"tr":{"name":"Deri tutulumu ile seyreden genetik immün yetmezlik"}},"xrefs":[{"source":"UMLS","code":"C5680569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":68346,"name":"Rare genetic skin disease","classifications":[156]}],"children":[{"orpha":83617,"name":"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","type":"Malformation syndrome"},{"orpha":656912,"name":"Autosomal dominant combined immunodeficiency due to ERBIN deficiency","type":"Disease"},{"orpha":2314,"name":"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency","type":"Disease"},{"orpha":656326,"name":"Autosomal recessive combined immunodeficiency due to IL6R deficiency","type":"Disease"},{"orpha":656300,"name":"Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency","type":"Disease"},{"orpha":641368,"name":"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency","type":"Disease"},{"orpha":379,"name":"Chronic granulomatous disease","type":"Disease"},{"orpha":1334,"name":"Chronic mucocutaneous candidiasis","type":"Disease"},{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease"},{"orpha":157949,"name":"Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect","type":"Disease"},{"orpha":714493,"name":"Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency","type":"Disease"},{"orpha":658946,"name":"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency","type":"Disease"},{"orpha":314,"name":"Erythroderma desquamativum","type":"Disease"},{"orpha":79477,"name":"Griscelli syndrome type 2","type":"Clinical subtype"},{"orpha":1839,"name":"Hereditary mucoepithelial dysplasia","type":"Malformation syndrome"},{"orpha":302,"name":"Inherited epidermodysplasia verruciformis","type":"Disease"},{"orpha":596759,"name":"RELA haploinsufficiency-associated inflammatory disease","type":"Disease"},{"orpha":51636,"name":"WHIM syndrome","type":"Disease"},{"orpha":568056,"name":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","type":"Disease"},{"orpha":906,"name":"Wiskott-Aldrich syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}