{"orpha":404546,"name":"DITRA","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Deficiency of IL-36R antagonist","Deficiency of IL-36Ra"],"definition":"A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404546/","orphanet_url":"https://www.orpha.net/en/disease/detail/404546","names":{"fr":{"name":"DITRA","synonyms":["Déficit en IL-36Ra","Déficit en antagoniste de l'IL-36R"],"definition":"Syndrome auto-inflammatoire rare d'origine génétique avec déficit immunitaire, caractérisé par des poussées sévères et récurrentes de psoriasis pustuleux généralisé associées à une forte fièvre, une asthénie et une inflammation systémique. Un déficit en antagoniste du récepteur de l'IL36R est à l'origine du syndrome. Des modifications unguéales de type psoriasis (par exemple, piqûres et onychomadèse) et une ichtyose peuvent être associées dans certains cas."},"de":{"name":"DITRA","synonyms":["IL-36R-Antagonisten-Mangel","IL-36Ra-Mangel"],"definition":"Ein autoinflammatorisches Syndrom mit Immundefizienz, das durch rezidivierende und schwere Schübe generalisierter pustulöser Psoriasis in Verbindung mit hohem Fieber, Asthenie und systemischer Entzündung gekennzeichnet ist und auf einen Mangel an IL36R-Antagonisten zurückzuführen ist. Gelegentlich können psoriatische Nagelveränderungen (z. B. Grübchenbildung und Onychomadesis) und Ichthyose auftreten."},"es":{"name":"DITRA","synonyms":["Deficiencia del IL-36Ra","Deficiencia del antagonista del IL-36R"],"definition":"Es un trastorno de inmunodeficiencia adquirida poco frecuente caracterizado por la aparición de susceptibilidad a infecciones oportunistas diseminadas (en particular, infección micobacteriana no tuberculosa diseminada, salmonelosis, peniciliosis e infección por el virus de la varicela zoster) en adultos previamente sanos (VIH negativos), asociada a la presencia de autoanticuerpos anti-interferón gamma adquiridos. Los hallazgos clínicos característicos incluyen linfadenopatía (cervical o generalizada), fiebre, pérdida de peso y/o lesiones cutáneas reactivas."},"it":{"name":"DITRA","synonyms":["Deficit dell'antagonista di IL-36R","Deficit di IL-36Ra"],"definition":"È una malattia autoinfiammatoria genetica rara associata ad immunodeficienza, caratterizzata da episodi ricorrenti e gravi di psoriasi pustolosa generalizzata associata a febbre, astenia e infiammazione sistemica, secondarie al defciit dell'antagonista di IL36R. Raramente i pazienti presentano alterazioni ungueali psoriasiche (formazione di fossette e onicomadesi) ed ittiosi."},"nl":{"name":"DITRA","synonyms":["Deficiëntie van IL-36R-antagonist","Deficiëntie van IL-36Ra"],"definition":"Een zeldzaam, genetisch, auto-inflammatoir syndroom met immuundeficiëntie dat gekarakteriseerd wordt door recurrente en ernstige opflakkeringen van gegeneraliseerde pustuleuze psoriasis geassocieerd met hoge koorts, asthenie, en systemische inflammatie, als gevolg van deficiëntie van IL36R-antagonist. Psoriatische veranderingen aan nagels (e.g. vorming van putjes en onychomadese) en ichthyosis kunnen occasioneel geassocieerd zijn."},"pt":{"name":"DITRA","synonyms":["Deficiência de IL-36Ra","Deficiência de antagonista IL-36R"]},"pl":{"name":"DITRA","synonyms":["Niedobór antagonisty IL-36R","Niedobór IL-36Ra"]},"cs":{"name":"DITRA","synonyms":["Deficit IL-36R antagonisty","Deficit IL-36Ra","Deficit IL-36 receptor antagonisty"]},"uk":{"name":"DITRA","synonyms":["Дефіцит антагоніста IL-36R","Дефіцит IL-36Ra"],"definition":"A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated."},"zh":{"name":"白介素36受体拮抗剂缺陷","synonyms":["IL-36R拮抗剂缺乏"],"definition":"一种罕见的遗传性自身免疫性综合症合并免疫缺陷性疾病，其特征为由于白介素36受体拮抗剂缺乏导致的反复发作的严重脓疱型牛皮癣合并高烧，虚弱和全身性炎症。可合并银屑病性指甲改变（例如凹陷性病斑和甲癣）和鱼鳞病。"},"tr":{"name":"DITRA","synonyms":["IL-36Ra eksikliği","IL-36R antagonistinin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614204","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L40.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4759670","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"IL36RN","name":"interleukin 36 receptor antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24131530[PMID]","hgnc":"15561","ensembl":"ENSG00000136695","omim":"605507","loci":["2q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"25848350[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25848350[PMID]"}],"phenotypes":null}