Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
OMIM:609889Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | RAG1 |
|---|---|
| Reference transcript | NM_000448.2 |
| DNA Change | c.2942A>C |
| A.A. Change | p.Gln981Pro |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | de Villartay JP, Lim A, Al-Mousa H, Dupont S, D?chanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F.A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005 Nov;115(11):3291-9. |