Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency
نویسندگان
چکیده
منابع مشابه
the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
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...
متن کاملAgammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation
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 interstiti...
متن کاملDeleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
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...
متن کاملMurine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation
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: Genes & Diseases
سال: 2020
ISSN: 2352-3042
DOI: 10.1016/j.gendis.2020.03.001