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.
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
タイトル
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
