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The protein encoded by LRBA is a member of the WDL-BEACH-WD (WBW) gene family. Additionally we are shipping LRBA Antibodies (17) and LRBA Proteins (2) and many more products for this protein.
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As diabetes was the presenting feature in six of nine individuals, we recommend that testing for LRBA mutations is considered in all patients with newly diagnosed neonatal diabetes and in those with infancy-onset diabetes (<12 months), especially when a recessive inheritance is suspected or additional autoimmune features are present
Assessing total CTLA-4 (show CTLA4 ELISA Kits) expression levels was found to be optimal when restricting analysis to the CD45RA(-)Foxp3 (show FOXP3 ELISA Kits)(+) fraction. CTLA-4 (show CTLA4 ELISA Kits) induction following stimulation, and the use of lysosomal-blocking compounds, distinguished CTLA-4 (show CTLA4 ELISA Kits) from LRBA mutations
Case Report: potential causative role of LRBA gene mutations in juvenile arthritis.
Among 2 brothers homozygous for LPS responsive beige-like anchor protein (LRBA) mutation, one developed Evans syndrome and deceased at age 8.5, and his brother carried the same homozygous LRBA mutation with early-onset erosive polyarthritis.
diagnosis of LRBA deficiency was confirmed by a fluorescence-activated cell sorting-based immunoassay
Variants of LRBA were associated with common variable immunodeficiency.
A homozygous missense mutation in lipopolysaccharide-responsive and beige (show LYST ELISA Kits)-like anchor gene is associated with inflammatory bowel disease.
LRBA mutation was associated with an autoimmune lymphoproliferative syndrome-like disease characterized by splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand (show FASL ELISA Kits) levels.
Patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4 (show CTLA4 ELISA Kits))-immunoglobulin fusion drug.
LRBA deficiency is a novel cause of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX (show FOXP3 ELISA Kits)) syndrome and Treg cell deficiency associated with metabolic dysfunction and increased apoptosis of Treg cells.
The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene.
, lipopolysaccharide-responsive and beige-like anchor protein
, CDC4-like protein
, vesicle trafficking, beach and anchor containing