{"orpha":457088,"name":"Predisposition to invasive fungal disease due to CARD9 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Invasive candidiasis-deep dermatophytosis syndrome"],"definition":"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457088/","orphanet_url":"https://www.orpha.net/en/disease/detail/457088","names":{"fr":{"name":"Prédisposition aux infections fongiques invasives par déficit en CARD9","synonyms":["Syndrome de candidose invasive-dermatophytie profonde"],"definition":"Déficit immunitaire primaire rare d'origine génétique, caractérisé par une sensibilité accrue aux infections fongiques, se manifestant habituellement par une candidose cutanéomuqueuse chronique récurrente, une candidose systémique avec méningoencéphalite et une dermatophytose profonde avec dermatophytes affectant la peau, les cheveux, les ongles, les ganglions lymphatiques et le cerveau, à l'origine de lésions érythématosquameuses, d'infiltrations hémorragiques ou sous-cutanées nodulaires, d'une onychomycose sévère et d'une lymphadénopathie."},"de":{"name":"Prädisposition für invasive Pilzinfektionen durch CARD9-Mangel","synonyms":["Invasive Candidose-tiefe Dermatophytose-Syndrom"],"definition":"Ein seltener, genetisch bedingter primärer Immundefekt, der durch eine erhöhte Anfälligkeit für Pilzinfektionen gekennzeichnet ist. Typischerweise zeigen die Patienten eine rezidivierende, chronische mukokutane Candidose, systemische Candidose mit Meningoenzephalitis und tiefe Dermatophystose mit Dermatophyten, die in Haut, Haare, Nägel, Lymphknoten und Gehirn eindringen, was zu erythematosquamösen Läsionen, knotigen subkutanen oder ulzerativen Infiltrationen, schwerer Onychomykose und Lymphadenopathie führt."},"es":{"name":"Predisposición a una enfermedad fúngica invasora por deficiencia de CARD9","synonyms":["Síndrome de candidiasis invasiva-dermatofitosis profunda"],"definition":"Es una inmunodeficiencia primaria genética y poco frecuente caracterizada por un aumento de la susceptibilidad a infecciones fúngicas que, por lo general, se manifiesta como candidiasis mucocutánea crónica y recurrente, candidiasis sistémica con meningoencefalitis y dermatofitosis profunda con dermatofitos que invaden la piel, cabello, uñas, ganglios linfáticos y cerebro, provocando lesiones eritematoescamosas, infiltraciones nodulares subcutáneas o ulcerativas, grave onicomicosis y linfadenopatía."},"it":{"name":"Suscettibilità alle micosi invasive da deficit di CARD9","definition":"È un'immunodeficienza primitiva genetica rara, caratterizzata da suscettibilità alle infezioni fungine, che di solito esordisce con candidiasi muco-cutanee ricorrenti croniche, candidiasi sistemica associata a meningoencefalite e dermatofitosi profonda con invasione della cute, dei capelli, delle unghie, dei linfonodi e del cervello da parte dei dermatofiti, che causano lesioni eritematose e squamose, infiltrazioni nodulari sottocutanee o ulcerose, onicomicosi grave e linfoadenopatia."},"nl":{"name":"Predispositie voor invasieve schimmelinfectie door CARD9-deficiëntie","synonyms":["Invasieve candidiasis - diepe dermatofytose-syndroom","Invasieve candidose - diepe dermatofytose-syndroom"],"definition":"Een zeldzame, genetische, primaire immuundeficiëntie, gekarakteriseerd door verhoogde vatbaarheid voor schimmelinfecties die zich doorgaans manifesteert als terugkerende, chronische mucocutane candidiasis, systemische candidiasis met meningo-encefalitis, en diepe dermatofytose (ringworm) met invasie van huid, haar, nagels, lymfeklieren en hersenen door dermatofyten, met als gevolg erythematosquameuze laesies, nodulaire subcutane of ulceratieve infiltraties, ernstige onychomycose, en lymfadenopathie."},"pt":{"name":"Predisposição a doença fúngica invasiva por défice de CARD9"},"pl":{"name":"Predyspozycja do inwazyjnej grzybicy z powodu niedoboru CARD9","synonyms":["Zespół inwazyjnej kandydozy i głębokiej dermatofitozy"]},"cs":{"name":"Predispozice k invazivním mykotickým onemocněním způsobená deficitem CARD9","synonyms":["Syndrom zahrnující invazivní kandidózu a hlubokou dermatofytózu"]},"uk":{"name":"Схильність до інвазивних грибкових захворювань, зумовлена дефіцитом CARD9","synonyms":["Синдром інвазивного кандидозу - глибокого дерматофітії"],"definition":"A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy."},"zh":{"name":"CARD9缺陷导致侵袭性真菌感染易感","synonyms":["侵袭性念珠菌病-深部皮肤癣菌综合症"],"definition":"一种罕见的遗传原发性免疫缺陷，其特点是对真菌感染的易感性增加，典型表现为反复发作的慢性粘膜皮肤念珠菌病、全身性念珠菌病伴脑膜炎和深部皮炎，皮肤真菌侵入皮肤、毛发、指甲、淋巴结和脑部，导致红斑鳞屑病变、皮下结节性或溃疡性浸润、严重的甲癣和淋巴结病。"},"tr":{"name":"CARD9 eksikliğine bağlı invazif mantar hastalığına yatkınlık","synonyms":["İnvazif kandidiyaz-derin dermatofitoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"212050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083959","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CARD9","name":"caspase recruitment domain family member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19864672[PMID]_24131138[PMID]","hgnc":"16391","ensembl":"ENSG00000187796","omim":"607212","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}