Ataxia-Telangiectasia with Hyper-IgM Syndrome

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منابع مشابه

Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.

Ataxia-telangiectasia (AT) and hyper-immunoglobulin M (HIGM) syndrome are both primary immunodeficiency diseases caused by different genetic defects. While a small proportion of AT patients have increased serum immunoglobulin (Ig) M concentrations during the course of a disease, a high level of IgM at onset is rare. We report the case of an 8-year-old girl who had experienced recurrent respirat...

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Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome.

• Vol 9 • May 2007 406 Ataxia-telangiectasia is a rare autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infection – all due to immune defects, and a high incidence of mainly B lymphoid malignancy [1]. Ataxiatelangiectasia results from mutations in a single gene, ataxia telangiectasia mutated (ATM). Th...

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Hyper-IgM syndrome: a case report.

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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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...

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Ataxia-telangiectasia

Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...

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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 2009

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-23-7-11