{"orpha":685017,"name":"Combined immunodeficiency due to TBX1 mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare combined immunodeficiency characterized by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying <i>TBX1</i> mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differs; not all patients with <i>TBX1</i> mutations have congenital heart defect, hypocalcemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-685017/","orphanet_url":"https://www.orpha.net/en/disease/detail/685017","names":{"fr":{"name":"Déficit immunitaire combiné dû à une mutation de TBX1","definition":"Syndrome avec déficit immunitaire combiné rare caractérisé par un profil vélo-cardio-facial (fentes palpébrales courtes et étroites, nez tubulaire, petite bouche, micrognathie, oreilles d'implantation basse, éminences malaires aplaties, joues larges), une malformation cardiaque congénitale, des anomalies du thymus et des parathyroïdes, ainsi qu'une insuffisance vélopharyngée. Une petite taille et des troubles psychiatriques peuvent également être observés. Des retards de développement et de langage ont été rapportés chez quelques patients. Même si les patients porteurs de mutations du gène <i>TBX1</i> peuvent présenter des caractéristiques cliniques similaires à celles du syndrome de délétion 22q11.2, la présence et la fréquence de ces symptômes diffèrent considérablement&nbsp;; tous les patients présentant des mutations du gène <i>TBX1</i> ne souffrent pas d'une malformation cardiaque congénitale, d'hypocalcémie, de troubles psychiatriques ou d'un retard de développement, contrairement aux patients atteints du syndrome de délétion 22q11.2 chez lesquels ces caractéristiques sont courantes."},"de":{"name":"Kombinierter Immundefekt durch TBX1-Mangel","synonyms":["CID durch TBX1-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada por mutación en el gen TBX1"},"it":{"name":"Immunodeficienza combinata da mutazione del gene TBX1"},"nl":{"name":"Gecombineerde immuundeficiëntie door TBX1-deficiëntie","synonyms":["CID door TBX1-deficiëntie"]},"pt":{"name":"Imunodeficiência combinada devido a deficiência TBX1"},"pl":{"name":"Skojarzony niedobór odporności spowodowany niedoborem TBX1"},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem TBX1"}},"xrefs":[{"source":"OMIM","code":"188400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"975891","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]}],"children":[],"genes":[{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17273972[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":195.0,"area":"Worldwide","status":"Validated","source":"11713452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11713452[PMID]_ORPHANET"}],"phenotypes":null}