| H01244 | |
| H number | H01244 |
| Name | T+B+Severe combined immunodeficiencies (SCIDs) |
| Description | Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological phenotype consists of the oligoclonal expansion of TCR-gamma/delta T cells combined with TCR-alpha/beta T cell lymphopenia. The clinical phenotype consists of severe, disseminated cytomegalovirus (CMV) infection and autoimmune blood cell manifestations. |
| Category | Primary immunodeficiency |
| Network | - |
| Gene | RAG-1 [HSA:5896] [KO:K10628] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.10 ICD-10: D81 MeSH: C563311 OMIM: 609889 |
| Reference | PMID:16276422 AUTHORS de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F TITLE A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. JOURNAL J Clin Invest 115:3291-9 (2005) DOI:10.1172/JCI25178 PMID:19243569 AUTHORS Pasic S, Djuricic S, Ristic G, Slavkovic B TITLE Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. JOURNAL Acta Paediatr 98:1062-4 (2009) DOI:10.1111/j.1651-2227.2009.01250.x PMID:16211094 AUTHORS Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P TITLE A variant of SCID with specific immune responses and predominance of gamma delta T cells. JOURNAL J Clin Invest 115:3140-8 (2005) DOI:10.1172/JCI25221 |