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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 Kits (2) and and many more products for this protein.
Showing 10 out of 19 products:
Human Polyclonal LRBA Primary Antibody for ICC, IF - ABIN4331440
Lopez-Herrera, Tampella, Pan-Hammarström, Herholz, Trujillo-Vargas, Phadwal, Simon, Moutschen, Etzioni, Mory, Srugo, Melamed, Hultenby, Liu, Baronio, Vitali, Philippet, Dideberg, Aghamohammadi et al.: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. ... in American journal of human genetics 2012
Human Polyclonal LRBA Primary Antibody for ICC, IF - ABIN4331442
Burns, Zenner, Plagnol, Curtis, Mok, Eisenhut, Kumararatne, Doffinger, Thrasher, Nejentsev: LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. in The Journal of allergy and clinical immunology 2012
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 Antibodies)-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 Antibodies) levels.
Patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4 (show CTLA4 Antibodies))-immunoglobulin fusion drug.
LRBA deficiency is a novel cause of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX (show FOXP3 Antibodies)) syndrome and Treg cell deficiency associated with metabolic dysfunction and increased apoptosis of Treg cells.
A truncating mutation in LRBA, which abolished protein expression, was identified as the most likely candidate in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency.
mutations in LRBA cause an immune deficiency characterized by defects in B cell activation (show BLNK Antibodies) and autophagy and by susceptibility to apoptosis, associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity
The crystal structure of the aPH (show APEH Antibodies)-BEACH domains of LRBA were studied.
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