{"orpha":169082,"name":"Combined immunodeficiency due to CD3gamma deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169082/","orphanet_url":"https://www.orpha.net/en/disease/detail/169082","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en CD3gamma","definition":"Immunodéficience primaire autosomique récessive rare caractérisée par une lymphopénie T partielle (en particulier les cellules CD8+ cytotoxiques) et une diminution de l'expression du complexe récepteur des cellules T (TCR)/CD3 avec une altération de la réponse proliférative aux stimuli dépendant du TCR, alors que le pool de cellules T mémoires matures est comparativement bien préservé et que les cellules B, les cellules tueuses naturelles, et les immunoglobulines sont généralement normales. Le phénotype clinique est très hétérogène, allant de l'état asymptomatique à l'apparition d'infections récurrentes graves pendant la petite enfance, ainsi que l'apparition d'une maladie auto-immune ou d'une entéropathie."},"de":{"name":"Immundefekt, kombinierter, durch CD3-gamma-Mangel","definition":"Ein autosomal-rezessiver primärer Immundefekt, der durch eine partielle T-Lymphopenie (insbesondere zytotoxische CD8+-Zellen) und eine verminderte Expression des T-Zell-Rezeptor (TCR)/CD3-Komplexes mit beeinträchtigter proliferativer Reaktion auf TCR-abhängige Stimuli gekennzeichnet ist, während der Pool reifer Gedächtnis-T-Zellen vergleichsweise gut erhalten ist und B-Zellen, natürliche Killerzellen und Immunglobuline in der Regel normal sind. Der klinische Phänotyp ist sehr heterogen und reicht von asymptomatisch bis zum Auftreten schwerer rezidivierender Infektionen im Kindesalter sowie dem Auftreten von Autoimmunerkrankungen oder Enteropathie."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de CD3gamma","definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por linfopenia parcial de células T (en particular células CD8+ citotóxicas) y expresión disminuida del complejo receptor de células T (TCR)/CD3 con alteración de la respuesta proliferativa a estímulos dependientes de TCR, mientras que el conjunto de células T de memoria maduras está comparativamente bien conservado, y las células B, las células asesinas naturales y las inmunoglobulinas son habitualmente normales. El fenotipo clínico es altamente heterogéneo, desde asintomático hasta la aparición de infecciones graves recurrentes en el periodo de lactancia, así como de enfermedad autoinmune o enteropatía."},"it":{"name":"Immunodeficienza combinata da deficit di CD3gamma","definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica recessiva, caratterizzata da linfopenia T parziale (in particolare cellule CD8+ citotossiche) e dalla ridotta espressione del complesso recettore delle cellule T (TCR)/CD3 con compromissione della risposta proliferativa agli stimoli TCR-dipendenti, mentre il pool di linfociti T della memoria maturi è ben conservato. I linfociti B, le cellule natural killer e le immunoglobuline di solito sono normali. Il quadro clinico è molto eterogeneo e comprende forme asintomatiche, infezioni gravi ricorrenti ad esordio infantile, malattie autoimmuni e l'enteropatia."},"nl":{"name":"Gecombineerde immuundeficiëntie door CD3-gamma-deficiëntie","definition":"Een zeldzame autosomaal recessieve primaire immuundeficiëntie, gekarakteriseerd door partiële T-lymfopenie (vooral cytotoxische CD8+ cellen) en verminderde expressie van T-celreceptor (TCR)/CD3-complex met verstoorde proliferatieve respons op TCR-afhankelijke stimuli, terwijl rijpe T-geheugencellen relatief goed bewaard blijven, en B-cellen, 'natural killer'-cellen, en immunoglobulinen doorgaans normaal zijn. Het klinische fenotype is hoogst heterogeen, gaande van asymptomatisch tot infantiel aanvangende, ernstige, recidiverende infecties, alsook voorkomen van auto-immuunziekte of enteropathie."},"pt":{"name":"Imunodeficiência combinada por deficiência em CD3 gama"},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu CD3gamma"},"cs":{"name":"Kombinovaná primární imunodeficience - deficit CD3gama"},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом CD3-гамма-лімфоцитів","definition":"A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy."},"zh":{"name":"CD3gamma 缺乏所致重症联合免疫缺陷","definition":"CD3γ缺陷所致联合免疫缺陷病一种罕见的原发性免疫缺陷疾病，其特征为部分T淋巴细胞减少（尤其是细胞毒性CD8+细胞）和T细胞受体（TCR）/CD3复合物减少，对TCR依赖性的刺激产生的增殖反应减少，而成熟记忆T细胞、B细胞、自然杀伤细胞和免疫球蛋白正常。其主要临床表现为无症状或婴儿期不同程度的反复感染，也可表现为自身免疫性疾病或肠道疾病，多以常染色体隐性方式遗传。"},"tr":{"name":"CD3gamma eksikliğine bağlı kombine immün yetmezlik"}},"xrefs":[{"source":"OMIM","code":"615607","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"68748907"},{"source":"MONDO","code":"0014276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510864","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":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CD3G","name":"CD3 gamma subunit of T-cell receptor complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1675","ensembl":"ENSG00000160654","omim":"186740","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[],"phenotypes":null}