Modern view on LRBA deficiency
نویسندگان
چکیده
منابع مشابه
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
BACKGROUND Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies. METHODS Family-trio whole exome sequencing with unbiased phenotype ontology approach was use...
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Inherited mutations in lipopolysaccharide-responsive beige-like anchor (LRBA) cause a recessive human immune dysregulation syndrome with memory B-cell and antibody deficiency (common variable immunodeficiency), inflammatory bowel disease, enlarged spleen and lymph nodes, accumulation of activated T cells and multiple autoimmune diseases. To understand the pathogenesis of the syndrome, C57BL/6 m...
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ژورنال
عنوان ژورنال: Russian Journal of Allergy
سال: 2020
ISSN: 2686-682X,1810-8830
DOI: 10.36691/rja1372