نتایج جستجو برای: hyper igm syndrome
تعداد نتایج: 655964 فیلتر نتایج به سال:
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
the hyperimmunoglobulin e syndrome is a rare complex primary immunodeficiency characterized by high serum ige levels, eczema, and recurrent infections. we present a case of 2-years-old girl with eczema and repeated bacterial skin and lung infections since the period of infancy. the patient also had eosinophilia, high serum levels of ige, and cows-milk hypersensitivity. we describe the case, in...
BACKGROUND Hyper-IgM syndronie (HIGM) is a rare primary immunodeficiency used to describe a heterogeneous group of disorders characterized by recurrey bacterial infrctions, normal or elevated serum IgM levels and low or absent serum IgG, IgA and IgE. AIM To make definitive diagnosis, detect mutations in carriers and perform genetic counseling in patients with HIGM. PATIENTS AND METHODS We s...
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