c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis
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منابع مشابه
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis
Mehmet Halil Celiksoy1, Stephan Borte2, Aydan İkincioğulları3, Meltem Ceyhan Bilgici4, Filiz Karagöz5, Ayhan Gazi Kalaycı6, Alişan Yıldıran3 1Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Samsun, Turkey 2Leipzig University Faculty of Medicine, Department of Clinical Immunolgy, Leipzig, Germany 3Ankara University Faculty of Medicine, Department of ...
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The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elevated serum IgM levels are the hallmark of the disease, even though in few rare cases they may be in the normal range. Hyper IgM is ass...
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Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was di...
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X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...
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Background: Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. Objective: To shed some light on the morbidity and mortality regar...
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ژورنال
عنوان ژورنال: Turkish Journal of Hematology
سال: 2014
ISSN: 1300-7777
DOI: 10.4274/tjh.2014.0081