{"orpha":280142,"name":"Combined immunodeficiency due to LCK deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to LCK deficiency","CID due to lymphocyte-specific protein tyrosine kinase deficiency","Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency"],"definition":"A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280142/","orphanet_url":"https://www.orpha.net/en/disease/detail/280142","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en LCK","synonyms":["CID par déficit en LCK","DIC par déficit en LCK","Déficit immunitaire combiné sévère par déficit en tyrosine kinase spécifique des lymphocytes","Immunodéficience combinée par déficit en LCK"],"definition":"Déficit immunitaire combiné T et B rare, caractérisé par un retard de croissance staturo-pondéral, des diarrhées sévères, des infections opportunistes et une différentiation et un fonctionnement anormaux des cellules T en raison d'un déficit en LCK, à l'origine d'un risque élevé d'inflammation et d'auto-immunité."},"de":{"name":"Immundefekt, kombinierter, durch LCK-Mangel","synonyms":["CID durch LCK-Defizienz","CID durch Leukozyten-spezifischen Protein-Tyrosin-Kinase-Mangel"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de LCK","synonyms":["CID por deficiencia de LCK","IDC por deficiencia de LCK","CID por deficiencia de la proteína tirosina quinasa específica de linfocitos","IDC por deficiencia de la proteína tirosina quinasa específica de linfocitos","Inmunodeficiencia combinada por deficiencia de la proteína tirosina quinasa específica de linfocitos"],"definition":"Es una inmunodeficiencia combinada de células T y B muy poco frecuente caracterizada por fallo de medro, diarrea grave, infecciones oportunistas y anomalías en la diferenciación y función de las células T debido a la deficiencia de LCK, lo que constituye un factor de riesgo importante de inflamación y autoinmunidad."},"it":{"name":"Immunodeficienza combinata grave da deficit di LCK","synonyms":["Immunodeficienza combinata grave da deficit della tirosina chinasi specifica dei linfociti","CID da deficit di LCK","CID da deficit della tirosina chinasi specifica dei linfociti"],"definition":"È un'immunodeficienza combinata rara dei linfociti T e B, caratterizzata da ritardo della crescita, diarrea grave, infezioni opportunistiche e anomalie della differenziazione e della funzione dei linfociti T causate da un deficit di LCK, che rappresenta un fattore di rischio significativo per l'infiammazione e l'autoimmunità."},"nl":{"name":"Gecombineerde immuundeficiëntie door LCK-deficiëntie","synonyms":["CID door deficiëntie van lymfocyt-specifiek tyrosine-proteïnekinase","Gecombineerde immuundeficiëntie door deficiëntie van lymfocyt-specifiek tyrosine-proteïnekinase","CID door LCK-deficiëntie"],"definition":"Een zeldzame, gecombineerde T- en B-cel-immuundeficiëntie die gekarakteriseerd wordt door groeiachterstand, ernstige diarree, opportunistische infectie, en abnormale differentiatie en functie van T-cellen al gevolg van LCK-deficiëntie, wat leidt tot een belangrijke risicofactor voor inflammatie en auto-immuniteit."},"pt":{"name":"Imunodeficiência combinada grave por deficiência de LCK","synonyms":["Imunodeficiência combinada grave por deficiência de proteína tirosina quinase específica de linfócitos","SCID por deficiência de LCK","SCID por deficiência de proteína tirosina quinase específica dos linfócitos"]},"pl":{"name":"Ciężki złożony Niedobór odporności z powodu niedoboru LCK","synonyms":["Ciężki złożony Niedobór odporności z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej","SCID z powodu niedoboru LCK","SCID z powodu niedoboru specyficznej dla limfocytów kinazy tyrozynowej"]},"cs":{"name":"Těžký kombinovaný imunodeficit způsobený deficitem LCK","synonyms":["SCID způsobený deficitem LCK","SCID způsobený deficitem specifické protein tyrozin-kinázy lymfocytů","Těžký kombinovaný imunodeficit způsobený deficitem specifické protein tyrozin-kinázy lymfocytů"]},"uk":{"name":"Тяжкий комбінований імунодефіцит через дефіцит LCK","synonyms":["ТКІД через дефіцит LCK","ТКІД внаслідок дефіциту лімфоцитарної тирозинкінази, специфічної для лімфоцитів","Тяжкий комбінований імунодефіцит, зумовлений дефіцитом лімфоцитарної протеїн-тирозинкінази"],"definition":"A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity."},"zh":{"name":"LCK基因缺陷所致重度联合免疫缺陷","synonyms":["淋巴细胞特异性蛋白酪氨酸激酶缺乏所致的严重联合免疫缺陷"],"definition":"LCK基因缺陷所致重症联合免疫缺陷是一种罕见的T-B细胞联合免疫缺陷，其特征是发育不良、严重腹泻、机会感染以及由于LCK基因缺陷所致T细胞分化和功能异常，是炎症和自身免疫性疾病的重要危险因素。"},"tr":{"name":"LCK eksikliğine bağlı ağır kombine immün yetmezlik","synonyms":["LCK eksikliğine bağlı SCID","Lenfosite özgü protein tirozin kinaz eksikliğine bağlı SCID","Lenfosite özgü protein tirozin kinaz eksikliğine bağlı ağır kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"615758","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"999642330"},{"source":"MONDO","code":"0014334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191006","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718053,"name":"Combined immunodeficiency with low CD4 and normal CD8","classifications":[156,195,233]},{"orpha":94075,"name":"Severe immune-mediated enteropathy","classifications":[152]}],"children":[],"genes":[{"symbol":"LCK","name":"LCK proto-oncogene, Src family tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6524","ensembl":"ENSG00000182866","omim":"153390","loci":["1p35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"9664084[PMID]_22985903[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}