Ataxia-Telangiectasia with Hyper-IgM Syndrome
نویسندگان
چکیده
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...
متن کاملAtaxia-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...
متن کاملHyper-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....
متن کاملMorbidity 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 کاملAtaxia-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