Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG
نویسندگان
چکیده
منابع مشابه
Morbidity and Mortality of Iranian Patients with Hyper IgM Syndrome: a Clinical Analysis
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...
متن کاملX-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
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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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....
متن کاملCD154 and type-1 cytokine response: from hyper IgM syndrome to human immunodeficiency virus infection.
CD40 and CD154 (CD40 ligand) are surface molecules that are central to the cross-talk between T cells and antigen-presenting cells. This article reviews the relevance of CD40-CD154 interaction for regulation of interleukin-12/interferon-gamma production in response to Toxoplasma gondii as an example of an intracellular pathogen. The manner in which defects in CD154 signaling contribute to immun...
متن کاملHyper-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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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2006
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2005.10.003