{"orpha":357237,"name":"Combined immunodeficiency due to CARD11 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to CARD11 deficiency","Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency"],"definition":"A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357237/","orphanet_url":"https://www.orpha.net/en/disease/detail/357237","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en CARD11","synonyms":["CID par déficit en CARD11","DIC par déficit en CARD11","Déficit immunitaire combiné par déficit en caspase recruitment domain protein family member 11"],"definition":"Déficit immunitaire combiné T et B rare caractérisé par un nombre normal de lymphocytes T et B, un nombre accru de cellules B transitionnelles et une hypo- ou agammaglobulinémie, un nombre réduit de lymphocytes T régulateurs et des défauts dans les fonctions des lymphocytes T. La maladie est associée à une forte prédisposition aux infections, y compris les infections opportunistes."},"de":{"name":"Immundefekt, kombinierter, durch CARD11-Mangel","synonyms":["CARD11-Defekt","CID durch CARD11-Defizienz"],"definition":"Ein seltener kombinierter Immundefekt, der durch eine normale Anzahl von T- und B-Lymphozyten, eine erhöhte Anzahl von Übergangs-B-Zellen und eine Hypo- bis Agammaglobulinämie, eine verringerte Anzahl von regulatorischen T-Zellen und Defekte in den T-Zellfunktionen aufgrund eines CARD11-Mangels gekennzeichnet ist. Es besteht eine hohe Anfälligkeit für Infektionen, einschließlich opportunistischer Infektionen."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de CARD11","synonyms":["IDC por deficiencia de CARD11","Inmunodeficiencia combinada por deficiencia del miembro 11 de la familia del dominio de reclutamiento de caspasas"],"definition":"Es una inmunodeficiencia combinada no-grave poco frecuente caracterizada por valores normales de linfocitos T y B, un incremento del número de células B transicionales, hipo- / agammaglobulinemia, disminución del número de células T reguladoras y defectos de función de las células T debido a una deficiencia de CARD11. Presenta una susceptibilidad grave a infecciones, incluyendo infecciones oportunistas."},"it":{"name":"Immunodeficienza combinata da deficit di CARD11","synonyms":["CID da deficit di CARD11","Immunodeficienza combinata da deficit della proteina 11 membro della famiglia contenente il dominio di reclutamento delle caspasi"],"definition":"L'immunodeficienza combinata grave da deficit di CARD11 è un'immunodeficienza rara combinata delle cellule T e B, caratterizzata da quantità normali di linfociti T e B, aumento delle cellule B transizionali e ipogammaglobulinemia o agammaglobulinemia, riduzione del numero e della funzione delle cellule T regolatorie. La malattia esordisce con una marcata suscettibilità alle infezioni, comprese quelle opportunistiche."},"nl":{"name":"Gecombineerde immuundeficiëntie door CARD11-deficiëntie","synonyms":["CID door CARD11-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van 'caspase recruitment domain family member 11'-proteïne"],"definition":"Een zeldzame niet-ernstige gecombineerde immuundeficiëntie, gekenmerkt door een normaal aantal T- en B-lymfocyten, een verhoogd aantal transitionele B-cellen en hypo- tot agammaglobulinemie, een verminderd aantal regulatorische T-cellen en disfunctie van T-cellen door CARD11-deficiëntie. De aandoening presenteert zich met ernstige vatbaarheid voor infecties, inclusief opportunistische infecties."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de CARD11","synonyms":["CID por deficiência CARD11","Imunodeficiência combinada por deficiência do domínio de recrutamento de caspases na proteína do membro da família 11"]},"pl":{"name":"Ciężki złożony niedobór odporności z powodu deficytu CARD11","synonyms":["SCID z powodu niedoboru CARD11"],"definition":"Rzadki, łagodny złożony niedobór odporności charakteryzujący się prawidłową liczbą limfocytów T i B, zwiększoną liczbą komórek B przejściowych i hipoglobulinemią lub agammaglobulinemią, zmniejszoną liczbą komórek T regulatorowych i defektami funkcji komórek T z powodu niedoboru CARD11. Objawia się dużą podatnością na zakażenia, w tym oportunistyczne."},"cs":{"name":"Těžká kombinovaná imunodeficience způsobená deficitem CARD11","synonyms":["SCID způsobená deficitem CARD11"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом CARD11","synonyms":["КІД через дефіцит CARD11","Комбінований імунодефіцит, зумовлений дефіцитом білка 11 члена родини домену рекрутування каспаз"],"definition":"Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."},"zh":{"name":"CARD11基因缺陷所致重症联合免疫缺陷","synonyms":["CARD11基因缺陷所致SCID"],"definition":"CARD11缺乏所致的严重联合免疫缺陷是一种罕见的T、B细胞联合免疫缺陷，其特征是T、B淋巴细胞数量正常，过渡性B细胞数量增加，低至无丙种球蛋白血症，调节性T细胞数量减少，T细胞功能缺陷。本病表现出对感染的严重易感性，包括机会性感染。"},"tr":{"name":"CARD11 eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["CARD11 eksikliğine bağlı SCID"]}},"xrefs":[{"source":"OMIM","code":"615206","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CARD11","name":"caspase recruitment domain family member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23561803[PMID]_23374270[PMID]","hgnc":"16393","ensembl":"ENSG00000198286","omim":"607210","loci":["7p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25087226[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25087226[PMID]"}],"phenotypes":null}