{"orpha":317416,"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 lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317416/","orphanet_url":"https://www.orpha.net/en/disease/detail/317416","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 T-B+ (DICS) est un groupe de troubles immunitaires monogéniques primaires rares caractérisé par un manque de fonction des lymphocytes périphériques T associé à la présence de lymphocytes B, résultant en l'apparition précoce d'infections respiratoires virales, bactériennes et fongiques sévères, de diarrhées et d'un retard de croissance staturo-pondérale."},"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, die durch das Fehlen funktionsfähiger peripherer T-Lymphozyten bei Vorhandensein von B-Lymphozyten gekennzeichnet ist Klinische Symptome sind früh einsetzende schwere viralen, bakterielle oder Pilzinfektionen der Atemwege, Diarrhöe und Gedeihstörung."},"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 periféricos funcionales con presencia de linfocitos B, dando lugar a infecciones respiratorias virales, bacterianas o fúngicas, graves y de aparición temprana, diarrea y retraso en el crecimiento."},"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 patologie mendeliane rare con immunodeficienza primitiva, caratterizzate dall'assenza dei linfociti T periferici, associata alla presenza di linfociti B, infezioni respiratorie micotiche, batteriche o virali gravi, ad esordio precoce, diarrea e ritardo della crescita."},"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-lymfocyten met aanwezigheid van B-lymfocyten, met als resultaat vroeg optredende ernstige virale, bacteriële of schimmelinfecties aan de luchtwegen, diarree en groeiachterstand."},"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":"Т-В+ 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 lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."},"zh":{"name":"T-B+ 重症联合免疫缺陷","synonyms":["T-B+ SCID"],"definition":"T-B+型重症联合免疫缺陷（SCID；见本术语）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血T淋巴细胞，而不缺乏B淋巴细胞，导致早发的重症呼吸道病毒、细菌或真菌感染、腹泻和生长发育迟滞。"},"tr":{"name":"T-B+ ağır kombine immün yetmezlik","synonyms":["T-B+ SCID"]}},"xrefs":[{"source":"ICD-10","code":"D81.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"443760536"},{"source":"MONDO","code":"0044200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679894","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":137631,"name":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","type":"Disease"},{"orpha":720280,"name":"T-B+NK+ severe combined immunodeficiency","type":"Clinical group"},{"orpha":720287,"name":"T-B+NK- severe combined immunodeficiency","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}