{"orpha":79391,"name":"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-79391/","orphanet_url":"https://www.orpha.net/en/disease/detail/79391","names":{"fr":{"name":"Déficit immunitaire avec atteinte cutanée","synonyms":["Immunodéficience avec atteinte cutanée"]},"de":{"name":"Hautkrankheit mit assoziiertem Immundefekt"},"es":{"name":"Inmunodeficiencia con afectación cutánea"},"it":{"name":"Immunodeficienza con coinvolgimento cutaneo"},"nl":{"name":"Immuundeficiëntie met betrokkenheid van huid"},"pt":{"name":"Imunodeficiência com envolvimento da pele"},"pl":{"name":"Niedobór odporności z zajęciem skóry"},"cs":{"name":"Imunodeficit s postižením kůže"},"uk":{"name":"Імунодефіцит з ураженням шкіри"},"zh":{"name":"免疫缺陷伴皮肤受累"},"tr":{"name":"Deri tutulum ile seyreden immun yetmezlik"}},"xrefs":[{"source":"MONDO","code":"19305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681476","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":89826,"name":"Rare skin disease","classifications":[187]}],"children":[{"orpha":83617,"name":"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome","type":"Malformation syndrome"},{"orpha":693627,"name":"Agammaglobulinemia-skin involvement-failure to thrive syndrome","type":"Disease"},{"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":619972,"name":"CADINS disease","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":714477,"name":"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome","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":300359,"name":"PLCG2-associated antibody deficiency and immune dysregulation","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}