Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months. He developed complete IgG deficiency, but remarkably, histological examination revealed germinal centres and plasma cells in lymphoid and inflamed lung tissue. Further charatecterisation showed these cells to express IgM but not...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...
Background Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...
Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein ...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficienc...
Introduction: Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA)...
Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficie...
Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency...
Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primar...
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...
Background Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...
Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein ...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well unders...
LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficienc...
Introduction: Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA)...
Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficie...
Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency...
Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primar...
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...
Background Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T...
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic m...