{"orpha":688543,"name":"T-B-NK- reticular dysgenesis-like severe combined immunodeficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Activated RAC2-associated severe combined immunodeficiency","Activated Rac2 defect","Non-syndromic reticular dysgenesis","T-B-NK- reticular dysgenesis-like SCID"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-688543/","orphanet_url":"https://www.orpha.net/en/disease/detail/688543","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B-NK- dysgénésie réticulaire-like","synonyms":["Dysgénésie réticulaire non syndromique","Déficit immunitaire combiné sévère dû à des mutations activatrices de RAC2","IDCS T-B-NK- dysgénésie réticulaire-like","Immunodéficience combinée sévère dysgénésie réticulaire-like","SCID T-B-NK- dysgénésie réticulaire-like"]},"de":{"name":"RAC2-assoziierter schwerer kombinierter Immundefekt bei aktiviertem RAC2","synonyms":["Nicht-syndromale retikuläre Dysgenesie","T-B-NK- SCID, RAC2-assoziiert","Retikuläre Dysgenesie-artiger schwerer kombinierter Immundefekt bei aktiviertem RAC2"]},"es":{"name":"Inmunodeficiencia combinada grave similar a la disgenesia reticular T-B-NK-","synonyms":["IDCG similar a la disgenesia reticular T-B-NK-","SCID similar a la disgenesia reticular T-B-NK-","Defecto por activación de Rac2","Disgenesia reticular no sindrómica","Inmunodeficiencia combinada grave por activación de RAC2"]},"it":{"name":"Immunodeficienza combinata grave simil-disgenesia reticolare T-B-NK","synonyms":["Difetto da attivazione di Rac2","Disgenesia reticolare non sindromica","SCID simil-disgenesia reticolare T-B-NK-","Immunodeficienza combinata grave correlata all'attivazione di RAC2"]},"nl":{"name":"T-B-NK- reticulaire dysgenesie-achtige ernstige gecombineerde immuundeficiëntie","synonyms":["Ernstige gecombineerde immuundeficiëntie geassocieerd met geactiveerd RAC2","Geactiveerd Rac2-defect","Niet-syndromale reticulaire dysgenesie","T-B-NK- reticulaire dysgenesie-achtige SCID"]},"pt":{"name":"Imunodeficiência combinada grave disgenesia reticular-like","synonyms":["Defeito de ativação Rac2","Disgenesia reticular não-sindrómica","Imunodeficiência combinada grave associada a ativação RAC2","SCID disgenesia reticular-like"]},"pl":{"name":"Ciężki złożony niedobór odporności przypominający dysgenezję retikularnąi","synonyms":["Activated RAC2-associated severe combined immunodeficiency","Activated Rac2 defect","Non-syndromic reticular dysgenesis","T-B-NK- reticular dysgenesis-like SCID"]},"cs":{"name":"Těžká kombinovaná imunodeficience připomínající retikulární dysgenezi","synonyms":["Activated RAC2-associated severe combined immunodeficiency","Activated Rac2 defect","Non-syndromic reticular dysgenesis","T-B-NK- reticular dysgenesis-like SCID"]}},"xrefs":[{"source":"ICD-10","code":"D81.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"975911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720294,"name":"T-B-NK- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"RAC2","name":"Rac family small GTPase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"31919089[PMID]","hgnc":"9802","ensembl":"ENSG00000128340","omim":"602049","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}