The extended phenotype of 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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Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral imm...
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The idea of the extended phenotype (EP), which was first proposed by the British evolutionary biologist Richard Dawkins to explain how and why organisms—or, more fundamentally, their genes—are able to manipulate their environment (Dawkins, 1982), has been the focus of intense debate and much research for more than 20 years. In his book, The Extended Phenotype: The Long Reach of the Gene, Dawkin...
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ژورنال
عنوان ژورنال: Frontiers in Immunology
سال: 2015
ISSN: 1664-3224
DOI: 10.3389/conf.fimmu.2015.05.00351