نتایج جستجو برای: hyper ige syndrome
تعداد نتایج: 654501 فیلتر نتایج به سال:
The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally ...
Immigrants from undeveloped countries are a growing problem in Europe. Spain has become a frequent destination for immigrants (20% of whom are children) because of its geographic location and its historic and cultural links with Africa and Latin America. Eosinophilia is frequent in adult immigrants, travelers and expatriates coming from tropical areas. However, there are few studies that focus ...
Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. Here we report the occurrence of a homozygous mutation in the PGM3 gene in a family with immunodef...
kimura’s disease (kd) is a chronic inflammatory disorder primarily seen in male asians during the second and third decades of life. clinically, it presents as solitary or multiple subcutaneous nodules, predominantly in the head and neck region, typically in the pre auricular region, forehead, and scalp. the etiology of kimura disease is still unknown. this disorder should be suspected when the ...
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