{"orpha":397959,"name":"TCR-alpha-beta-positive T-cell deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TCR-alpha-beta+ T-cell deficiency"],"definition":"A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397959/","orphanet_url":"https://www.orpha.net/en/disease/detail/397959","names":{"fr":{"name":"Déficit en cellules T TCR-alpha-bêta positives","synonyms":["Déficit en cellules T TCR-alpha-bêta+"],"definition":"Déficit immunitaire primaire héréditaire rare caractérisé par des infections récurrentes des voies respiratoires, des otites moyennes, une candidose, des diarrhées, ainsi que par divers signes et symptômes de dérèglement immunitaire (hyperéosinophilie, eczéma, vitiligo, pelade, anémie hémolytique auto-immune, pityriasis rubra pilaire). Des cas de retard de croissance, de lymphadénopathie modérée et d'hépatomégalie ont également été rapportés."},"de":{"name":"T-Zell-Mangel, TCR-alpha-beta-positiver","synonyms":["TCR-alpha-beta+ T-Zell-Mangel"]},"es":{"name":"Deficiencia de células T TCR-alfa-beta positivas","synonyms":["Deficiencia en células T TCR-alfa-beta+"],"definition":"La deficiencia de células T TCR-alfa-beta positivas es una inmunodeficiencia primaria hereditaria poco frecuente, caracterizada por infección recurrente del tracto respiratorio, otitis media, candidiasis, diarrea, así como diversos signos y síntomas de desregulación inmunológica (hipereosinofilia, eczema, vitiligo, alopecia areata, anemia hemolítica autoinmune, pitiriasis rubra pilaris). También se ha descrito fallo de medro, linfadenopatías moderadas y hepatomegalia."},"it":{"name":"Deficit delle cellule T TCR-alfa-beta-positive","synonyms":["Deficit delle cellule T TCR-alfa-beta+"],"definition":"Il deficit delle cellule T TCR-alfa-beta positive è un'immunodeficienza primitiva ereditaria rara, caratterizzata da infezioni ricorrenti delle vie aeree, otite media, candidiasi, diarrea e i segni clinici caratteristici della disregolazione immunitaria (ipereosinofilia, eczema, vitiligine, alopecia areata, anemia emolitica autoimmune, pitiriasi rubra pilare). Può associarsi a ritardo della crescita, linfoadenopatia moderata ed epatomegalia."},"nl":{"name":"TCR-alfa-bèta-positieve T-celdeficiëntie","synonyms":["TCR-alfa-bèta+ T-celdeficiëntie"],"definition":"TCR-alfa-bèta-positieve T-celdeficiëntie is een zeldzame, erfelijke primaire immuundeficiëntie die gekarakteriseerd wordt door recurrente infecties van de luchtwegen, middenoorontsteking, candidiasis, diarree, alsook verscheidene tekenen en symptomen van ontregeling van het immuunsysteem (hypereosinofilie, eczeem, vitiligo, alopecia areata, auto-immune hemolytische anemie, pityriasis rubra pilaris). Groeiachterstand, matige lymfadenopathie en hepatomegalie werden ook reeds gerapporteerd."},"pt":{"name":"Défice de células T, TCR-alfa-beta positivas"},"pl":{"name":"Niedobór TCR-alfa-beta pozytywnych komórek T","synonyms":["Niedobór TCR-alfa-beta+ komórek T"]},"cs":{"name":"TCR-alfa-beta-pozitivní T-buněčný deficit","synonyms":["TCR-alfa-beta+ T-buněčný deficit"]},"uk":{"name":"Дефіцит TCR-альфа-бета-позитивних Т-клітин","synonyms":["Дефіцит TCR-альфа-бета+ Т-клітин"],"definition":"A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported."},"zh":{"name":"T细胞受体α/β阳性T细胞缺乏症","synonyms":["T细胞受体α/β+T细胞缺乏症"],"definition":"TCR-α-β-阳性T细胞缺乏是一种罕见的遗传性原发性免疫缺陷，其特征为反复呼吸道感染、中耳炎、念珠菌病、腹泻以及免疫调节障碍的各种体征和症状(嗜酸性粒细胞增多症、湿疹、白癜风、斑秃、自身免疫性溶血性贫血、毛发红糠疹)。生长不良、中度淋巴结病和肝肿大也有被报道。"},"tr":{"name":"TCR-alfa-beta-pozitif T-hücre eksikliği","synonyms":["TCR-alfa-beta + T hücresi eksikliği"]}},"xrefs":[{"source":"OMIM","code":"615387","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718079,"name":"Combined immunodeficiency with normal B cells and normal immunoglubulins","classifications":[156,195,233]},{"orpha":94075,"name":"Severe immune-mediated enteropathy","classifications":[152]}],"children":[],"genes":[{"symbol":"TRAC","name":"T-cell receptor alpha constant","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21206088[PMID]","hgnc":"12029","ensembl":"ENSG00000277734","omim":"186880","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21206088[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21206088[PMID]"}],"phenotypes":null}