{"orpha":397964,"name":"Combined immunodeficiency due to MALT1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397964/","orphanet_url":"https://www.orpha.net/en/disease/detail/397964","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en MALT1","synonyms":["Immunodéficience combinée par déficit en MALT1"],"definition":"Forme génétique rare de déficit immunitaire primaire caractérisée par un retard de croissance, des infections pulmonaires récurrentes précoces provoquant une bronchiectasie, une maladie gastro-intestinale inflammatoire et d'autres symptômes tels qu'une éruption cutanée, une dermatite et des infections cutanées."},"de":{"name":"Immundefekt, kombinierter, durch MALT1-Mangel"},"es":{"name":"Inmunodeficiencia combinada por deficiencia de MALT1","definition":"La inmunodeficiencia combinada por deficiencia de MALT1 es una forma de inmunodeficiencia primaria, genética y poco frecuente, caracterizada por retraso del crecimiento, infecciones pulmonares recurrentes tempranas que conducen a bronquiectasias, enfermedad inflamatoria gastrointestinal y otros síntomas, tales como erupciones, dermatitis e infecciones cutáneas."},"it":{"name":"Immunodeficienza combinata da deficit di MALT1","definition":"L'immunodeficienza combinata da deficit di MALT1 è un'immunodeficienza primitiva genetica rara, caratterizzata da ritardo della crescita, infezioni polmonari ricorrenti ad esordio precoce con conseguente bronchiectasia, malattia gastrointestinale infiammatoria ed altri segni clinici, che comprendono le eruzioni, la dermatite e le infezioni cutanee."},"nl":{"name":"Gecombineerde immuundeficiëntie door MALT1-deficiëntie","definition":"Gecombineerde immuundeficiëntie door MALT1-deficiëntie is een zeldzame, genetische vorm van primaire immuundeficiëntie die gekarakteriseerd wordt door groeiretardatie, vroege recurrente pulmonale infecties met bronchiëctasie tot gevolg, inflammatoire gastro-intestinale ziekte, en andere symptomen zoals huiduitslag, dermatitis, en huidinfecties."},"pt":{"name":"Imunodeficiência combinada por défice de MALT1"},"pl":{"name":"Złożony niedobór odporności z powodu deficytu MALT1","definition":"*Złożony niedobór odporności z powodu deficytu MALT1 jest rzadką, genetycznie uwarunkowaną postacią pierwotnego niedoboru odporności. Charakteryzuje się opóźnionym wzrastaniem, wcześnie pojawiającymi się nawracającymi infekcjami płuc prowadzącymi do rozstrzeni oskrzeli, zapalną chorobą przewodu pokarmowego i innymi objawami, takimi jak wysypka, zapalenie skóry, infekcje skóry."},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem MALT1"},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом MALT1","definition":"Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."},"zh":{"name":"黏膜关联淋巴组织淋巴瘤易位基因1缺陷导致的联合免疫缺陷","definition":"由于MALT1缺乏所致联合免疫缺陷是一种罕见的原发性免疫缺陷的遗传形式，其特征为生长迟缓、早期复发性肺部感染导致支气管扩张、炎性胃肠疾病和其他症状(如皮疹、皮炎、皮肤感染)。"},"tr":{"name":"MALT1 eksikliğine bağlı kombine immün yetmezlik"}},"xrefs":[{"source":"OMIM","code":"615468","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750906","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688563,"name":"Combined immunodeficiency with normal Ig and poor specific antibody response","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"MALT1","name":"MALT1 paracaspase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23727036[PMID]_24332264[PMID]","hgnc":"6819","ensembl":"ENSG00000172175","omim":"604860","loci":["18q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23727036[PMID]_24332264[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23727036[PMID]_24332264[PMID]"}],"phenotypes":null}