Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
نویسندگان
چکیده
منابع مشابه
Hyper-IgM Immunodeficiency with Enamel Defects: a Case Report
Background: Hyper-Immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency in which defective B-cell isotype switching results in a phenotype characterized by elevated or normal serum IgM levels and low levels of other Ig classes, leading to an increased susceptibility to infection, neutropenia, autoimmune disorders, and malignancies. In this disease, a mutation occurs in the C...
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Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case present...
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Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8....
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A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive. His IgG and IgA levels were low, but his IgM was elevated. He also had undetectable isohaemagglutinin titre and neutropenia, both parameters being poor prognostic indicators in this very rare primary immunodeficiency state--antibody deficiency with hyper IgM. Our patient subsequently succumbed to Pseud...
متن کاملautoimmune hemolytic anemia in a patient with probable ataxia telangiectasia: a case report
background: ataxia telangiectasia (at) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (aiha), are not generally expected in the course of at, we present a patient with an unusual presentation of these two conditions. case present...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2020
ISSN: 2296-2360
DOI: 10.3389/fped.2020.570330