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- W2123295934 abstract "Abstract Hyperimmunoglobulinemia 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 3–7 days and recurring every 4–6 weeks, with only partial symptom decrease in adulthood. Fever is typically accompanied by abdominal pain, vomiting, diarrhoea and cervical lymphadenopathy, and sometimes by skin and joint symptoms. Blood leukocytes and serum C‐reactive protein are elevated during the episode, and in addition, high levels of interleukine‐1 (IL‐1), IL‐6 and tumour necrosis factor (TNF) and respective soluble receptors have been measured. Instead, serum immunoglobulin D (IgD) is usually normal until 3 years of age. Currently, there is no established treatment for HIDS. Thus far, four children have been successfully treated with etanercep, TNF‐alpha inhibitor, and three children with anakinra, IL‐1 receptor antagonist. Conclusion: This review summarizes currently available data on the use biological medicines for HIDS in children. A Finnish 1.5‐year‐old patient with disease onset at 6 months of age, treated successfully with anakinra, is presented." @default.
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- W2123295934 date "2010-08-26" @default.
- W2123295934 modified "2023-10-17" @default.
- W2123295934 title "Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report" @default.
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- W2123295934 doi "https://doi.org/10.1111/j.1651-2227.2010.01974.x" @default.
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