Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H01244 T+B+Severe combined immunodeficiencies (SCIDs)
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H01244 T+B+Severe combined immunodeficiencies (SCIDs)
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.