A- or hypo-gammaglobulinaemia
Gene: CTLA4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Predominant phenotype is immune dysregulation; a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
Comment on list classification: Autoimmune condition leading to reduced T and B cells and hypogammaglobulinaemia.Created: 16 May 2016, 1:46 p.m.
Comment when marking as ready: No expert review. No association with disease in Gen2Phen. Numerous variants reported in AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V in the two publications citedCreated: 13 May 2016, 7:27 a.m.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CTLA4 were set to CVID; hypogammaglobulinaemia; lymphadenopathy; T cell lymphopenia; enteropathy; interstitual lung disease; autoimmunity; Autoimmune lymphoproliferative syndrome, type V 616100
This gene has been classified as Amber List (Moderate Evidence).
Publications for CTLA4 were set to 25213377; 25329329
Publications for CTLA4 were set to 25213377;
CTLA4 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature
CTLA4 was created by wmkr103