Disorders of immune dysregulation
Gene: LRBA
At least 5 unrelated consanguineous families reported with CVID.
Sources: LiteratureCreated: 23 Jul 2020, 2:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Publications
Sources: Expert listCreated: 5 Apr 2020, 3:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections
Publications
Gene: lrba has been classified as Green List (High Evidence).
Gene: lrba has been classified as Green List (High Evidence).
gene: LRBA was added gene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections Review for gene: LRBA was set to GREEN