Hyperimmunoglobulin D Syndrome: Case Report
نویسندگان
چکیده
منابع مشابه
Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.
Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measuremen...
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Case A-7 year old boy was admitted with complaints of edema on his eyelid and lower extremity. On admission, he had edema, hepatosplenomegaly, proteinuria and hypoalbuminemia. So his diagnosis was accepted as nephrotic syndrome and steroid therapy was started. Since he did not respond steroid therapy, kidney biopsy was performed. Biopsy findings were consistent with amyloidosis. Steroid therapy...
متن کاملHyperimmunoglobulin-D Syndrome in Children: A Review Article
Hyperimmunoglobulin-D syndrome (HIDS) is a rare, autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase gene. HIDS usually starts in infancy with recurrent fever episodes lasting three to seven days and recurring every three to six weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, di...
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Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease.
متن کاملThe hyperimmunoglobulin E syndrome.
Hyperimmunoglobulin E syndrome is a primary immunodeficiency disease characterized by markedly high titers of serum immunoglobulin E (IgE), chronic eczema, recurrent staphylococcal infections, pneumatoceles, reduced neutrophil chemotaxis, and variable impaired T cell function. There are no clinical tools for diagnosis and definitive laboratory investigation. Variability of presentation makes it...
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ژورنال
عنوان ژورنال: Archives of Rheumatology
سال: 2015
ISSN: 2148-5046
DOI: 10.5606/archrheumatol.2015.4986