Novel compound heterozygous stop‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency
نویسندگان
چکیده
منابع مشابه
IVIG Anaphylaxis in a patient with Common variable immune deficiency disease (CVID).
Common variable immune deficiency disease (CVID) is one of the most common primary immunodeficiency disorders. It causes reduction of immunoglobulin levels and specific antibodies production and enhancement of recurrent and chronic infections risk, especially respiratory infections and gastrointestinal tracts. Here, we report a case of CVID in a 3 years old male with recurrent hospitalizations ...
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 کاملNovel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensit...
متن کاملMultifocal 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 کاملA Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1216