Key Clinical Message
LPS-responsive beige-like anchor protein (LRBA) deficiency, classified as a disease of immune dysregulation due to regulatory T (Treg)-cell, is caused by autosomal recessive mutations in the LRBA gene. Since its first discovery in patients with Common Variable Immunodeficiency (CVID) in 2012, several other mutations in LRBA have been reported. Here, we introduce a 9-year-old female with childhood-onset arthritis and immunodeficiency, in whom we found a novel mutation inLRBA .
KEYWORDS
LRBA mutation; Primary Immunodeficiency Diseases; Common Variable Immunodeficiency; LPS-responsive beige-like anchor protein; Hypogammaglobulinemia; Child