{"orpha":317419,"name":"T-B- severe combined immunodeficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["T-B- SCID"],"definition":"T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317419/","orphanet_url":"https://www.orpha.net/en/disease/detail/317419","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B-","synonyms":["DICS T-B-","IDCS T-B-","Immunodéficience combinée sévère T-B-","SCID T-B-"],"definition":"Le déficit immunitaire combiné sévère (DICS) T-B- est un groupe de troubles immunitaires monogéniques primaires rares caractérisé par une absence de fonction des lymphocytes T et B périphériques, résultant en infections respiratoires virales, bactériennes ou fongiques sévères récurrentes et d'apparition précoce, de diarrhées et un retard de croissance staturo-pondérale. L'hypersensibilité à la radiation ionisante est une caractéristique de certains sous-types."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B-","synonyms":["T-B- SCID"],"definition":"Der kombinierte schwere Immundefekt (SCID; siehe dort) T-B- umfasst eine Gruppe seltener monogener primärer Immundefekt-Störungen mit dem Fehlen funktionsfähiger peripherer T- und B-Lymphozyten. Die Folge sind rezidivierende, früh einsetzende schweren virale, bakterielle oder Pilzinfektionen der Atemwege, Diarrhöe und Gedeihstörung. Hypersensitivität gegenüber ionisierender Strahlung ist ein charakteristisches Merkmal einiger seiner Subtypen."},"es":{"name":"Inmunodeficiencia combinada grave T-B-","synonyms":["IDCG T-B-","T-B- SCID"],"definition":"La inmunodeficiencia combinada grave (IDCG) T-B- es un grupo de trastornos monogénicos de inmunodeficiencia primaria poco frecuentes, que se caracteriza por una falta de linfocitos T y B periféricos funcionales, dando lugar a infecciones respiratorias graves virales, bacterianas o fúngicas de aparición temprana, diarrea y retraso en el crecimiento. La hipersensibilidad a radiaciones ionizantes es un rasgo característico en algunos de sus subtipos."},"it":{"name":"Immunodeficienza combinata grave T-B-","synonyms":["T-B- SCID"],"definition":"L'immunodeficienza combinata grave (SCID; si veda questo termine) T-B- definisce un gruppo di malattie mendeliane rare con immunodeficienza primitiva, assenza dei linfociti T e B periferici, che causano gravi infezioni respiratorie virali, batteriche o micotiche ricorrenti ad esordio precoce, diarrea e ritardo della crescita. L'ipersensibilità alle radiazioni ionizzanti è un segno caratteristico di alcuni sottotipi della malattia."},"nl":{"name":"T-B- ernstige gecombineerde immuundeficiëntie","synonyms":["T-B- SCID"],"definition":"T-B- ernstige gecombineerde immuundeficiëntie (SCID; zie deze term) is een groep zeldzame monogene primaire immuundeficiënties die worden gekarakteriseerd door een gebrek aan functionele perifere T- en B-lymfocyten, met als resultaat vroeg optredende en terugkerende ernstige virale, bacteriële of schimmelinfecties aan de luchtwegen, diarree en groeiachterstand. Overgevoeligheid voor ioniserende is een typisch kenmerk voor sommige subtypes."},"pt":{"name":"Imunodeficiência combinada grave T-B-","synonyms":["T-B- SCID"]},"pl":{"name":"Ciężki złożony Niedobór odporności T-B-","synonyms":["T-B- SCID"]},"cs":{"name":"T-B- těžká kombinovaná imunodeficience","synonyms":["T-B- SCID"]},"uk":{"name":"T-B- тяжкий комбінований імунодефіцит","synonyms":["T-B- ТКІД"],"definition":"T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."},"zh":{"name":"T-B- 重症联合免疫缺陷","synonyms":["T-B- SCID"],"definition":"T-B-严重联合免疫缺陷（SCID）是一组罕见的单基因原发性免疫缺陷疾病，其特征是缺乏功能性外周T和B淋巴细胞，导致反复发作的早期重症呼吸道病毒、细菌或真菌感染、腹泻和生长发育迟滞。对电离辐射过敏是其某些亚型的特征。"},"tr":{"name":"T-B- ağır kombine immün yetmezlik","synonyms":["T-B- SCID"]}},"xrefs":[{"source":"ICD-10","code":"D81.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1860071271"},{"source":"MONDO","code":"0017855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183660,"name":"Severe combined immunodeficiency","classifications":[156,195,233]}],"children":[{"orpha":935,"name":"Short-limb skeletal dysplasia with severe combined immunodeficiency","type":"Disease"},{"orpha":720301,"name":"T-B-NK+ severe combined immunodeficiency","type":"Clinical group"},{"orpha":720294,"name":"T-B-NK- severe combined immunodeficiency","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}