{"orpha":183660,"name":"Severe combined immunodeficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["SCID"],"definition":"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183660/","orphanet_url":"https://www.orpha.net/en/disease/detail/183660","names":{"fr":{"name":"Déficit immunitaire combiné sévère","synonyms":["IDCS","Immunodéficience combinée sévère","SCID"],"definition":"Le déficit immunitaire combiné sévère (SCID) regroupe un ensemble de troubles de l'immunodéficience primaire monogéniques rares caractérisés par un déficit en lymphocytes T (LT) périphériques fonctionnels, ce qui conduit à des infections respiratoires sévères, d'apparition précoce, et à un retard de croissance staturo-pondérale. En fonction du phénotype immunologique, ils sont classés en SCID avec absence de LT, mais présence de LB (SCID T-B+), ou en SCID avec absence des deux (SCID T-B-). Les deux groupes incluent plusieurs formes, avec ou sans lymphocytes tueurs naturels (NK)."},"de":{"name":"Immundefekt, kombinierter schwerer","synonyms":["SCID"],"definition":"Der schwere kombinierte Immundefekt (SCID) umfasst eine Gruppe seltener monogener primärer Immundefektstörungen, die durch das Fehlen funktionaler peripherer T-Lymphozyten gekennzeichnet ist. Folgen sind früh einsetzende schwere Atemwegsinfektionen und Gedeihstörung. Die Störungen werden entsprechend ihrem immunologischen Phänotyp unterteilt in SCID mit fehlenden T-Zellen, aber vorhandenen B-Zellen (T-B+ SCID; siehe dort) oder SCID, dem beide Zellen fehlen (T-B- SCID; siehe dort). Beide Gruppen umfassen mehrere Formen, mit oder ohne Natürliche Killer (NK)-Zellen."},"es":{"name":"Inmunodeficiencia combinada grave","synonyms":["IDCG","SCID"],"definition":"La inmunodeficiencia combinada grave (IDCG) engloba un grupo de inmunodeficiencias primarias monogénicas poco frecuentes caracterizadas por la falta de linfocitos T periféricos funcionales lo que provoca infecciones respiratorias graves de aparición temprana y retraso del crecimiento. Se clasifican de acuerdo al fenotipo inmunológico en: IDCG con ausencia de células T pero presencia de células B (IDCG T-B+) o IDCG con ausencia de ambos (IDCG T-B-). Ambos grupos incluyen diversas formas, con o sin células NK."},"it":{"name":"Immunodeficienza combinata grave","definition":"L'immunodeficienza combinata grave (SCID) definisce un gruppo di immunodeficienze primitive mendeliane rare caratterizzate dall'assenza dei linfociti T periferici, che esita in infezioni respiratorie gravi a esordio precoce e ritardo della crescita. A seconda del fenotipo immunologico, si classificano in SCID senza cellule T e con cellule B (T-B+ SCID) o SCID senza cellule sia B che T (T-B- SCID). Entrambe comprendono forme con o senza cellule natural killer (NK)."},"nl":{"name":"Ernstige gecombineerde immuundeficiëntie","synonyms":["SCID"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID) omvat een groep zeldzame monogene primaire immuundeficiënties die worden gekarakteriseerd door een gebrek aan functionele perifere T-lymfocyten, wat leidt tot vroegtijdige en ernstige infecties van de luchtwegen en groeiachterstand. Volgens immunologisch fenotype worden ze onderverdeeld in SCID met afwezigheid van T-cellen maar aanwezigheid van B-cellen (T-B+ SCID) of SCID met afwezigheid van beide (T-B- SCID) (zie deze termen). Beide groepen omvatten verschillende vormen, met of zonder <i>natural killer</i> (NK)-cellen."},"pt":{"name":"Imunodeficiência combinada grave"},"pl":{"name":"Ciężki złożony Niedobór odporności","synonyms":["SCID"]},"cs":{"name":"Těžká kombinovaná imunodeficience","synonyms":["SCID"]},"uk":{"name":"Тяжкий комбінований імунодефіцит","synonyms":["SCID"],"definition":"Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells."},"zh":{"name":"重症联合免疫缺陷","synonyms":["SCID"],"definition":"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，其主要临床表现为缺乏功能性的外周T淋巴细胞，导致早期严重呼吸道感染和发育不良，可根据免疫表型分为以下2类：无T细胞有B细胞的SCID（T-B+SCID）和两者均不存在的SCID（T-B-SCID）（见术语）。这两组疾病均有不同分型，伴或不伴自然杀伤细胞（NK）细胞。"},"tr":{"name":"Ağır kombine immün yetmezlik","synonyms":["SCID"]}},"xrefs":[{"source":"ICD-11","code":"4A01.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"963193284"},{"source":"MONDO","code":"0015974","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15974","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085110","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7628","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069566","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":397802,"name":"OBSOLETE: T+ B+ severe combined immunodeficiency","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101972,"name":"Combined T and B cell immunodeficiency","classifications":[156,195]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[{"orpha":317416,"name":"T-B+ severe combined immunodeficiency","type":"Clinical group"},{"orpha":317419,"name":"T-B- severe combined immunodeficiency","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.65,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"France","status":"Validated","source":"22288591[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Greece","status":"Validated","source":"21732012[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.75,"area":"Australia","status":"Not yet validated","source":"18221464[PMID]_9314356[PMID]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.28,"area":"Chile","status":"Validated","source":"17191150[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.79,"area":"Costa rica","status":"Validated","source":"17191150[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.72,"area":"United States","status":"Validated","source":"25138334[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}