{"orpha":696907,"name":"Common variable immunodeficiency phenotype due to homozygous TACI deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID phenotype due to homozygous TACI deficiency","Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency","Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696907/","orphanet_url":"https://www.orpha.net/en/disease/detail/696907","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en TACI homozygote","synonyms":["Phénotype d'immunodéficience commune variable par déficit en TACI homozygote","Phénotype de CVID par déficit en TACI homozygote","Phénotype de DICV par déficit en TACI homozygote","Phénotype de déficit immunitaire commun variable par déficit en TNFRSF13B homozygote","Phénotype de déficit immunitaire commun variable par déficit homozygote en protéine transmembrane activator and CAML interactor"]},"de":{"name":"Variables Immundefekt-Syndrom durch TACI-Mangel","synonyms":["CVID durch TACI-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia homocigota de TACI","synonyms":["Fenotipo de IDCV por deficiencia homocigota de TACI","Fenotipo de inmunodeficiencia común variable por deficiencia homocigota de TNFRSF13B","Fenotipo de inmunodeficiencia común variable por deficiencia homocigota del activador transmembrana e interactuador de CAML"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit omozigote di TACI","synonyms":["Fenotipo della CVID da deficit omozigote di TACI","Fenotipo dell’immunodeficienza comune variabile da deficit omozigote di TNFRSF13B","Fenotipo dell’immunodeficienza comune variabile da deficit omozigote dell'attivatore transmembrana e dell'interattore CAML"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door homozygote TACI-deficiëntie","synonyms":["CVID-fenotype door homozygote TACI-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door homozygote TNFRSF13B-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door homozygote deficiëntie van transmembranaire activator en CAML-interactor"]},"pt":{"name":"Common variable immunodeficiency phenotype due to homozygous TACI deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to homozygous TACI deficiency","synonyms":["CVID phenotype due to homozygous TACI deficiency","Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency","Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency"]},"cs":{"name":"Common variable immunodeficiency phenotype due to homozygous TACI deficiency","synonyms":["CVID phenotype due to homozygous TACI deficiency","Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency","Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency"]}},"xrefs":[{"source":"OMIM","code":"240500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609529","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99974,"name":"OBSOLETE: TACI-related selective deficiency of IgA","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]}],"children":[],"genes":[{"symbol":"TNFRSF13B","name":"TNF receptor superfamily member 13B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16007086[PMID]","hgnc":"18153","ensembl":"ENSG00000240505","omim":"604907","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}