Hiper IgD syndrome (HIDS): clinical and genetic features in five patients
نویسندگان
چکیده
Introduction The Hiper-IgD Syndrome (HIDS) is an autoinflammatory disease characterized by recurrent febrile episodes each 4– 8 weeks accompanied by an intense inflammatory reaction, lymphadenopathy, abdominal pain, diarrhea, arthralgias, hepatosplenomegaly and cutaneous signs [1]. Mutations in the gene that codifies the enzyme mevalonate kinase (MVK), located in the chromosome 12q24, have been demonstrated to be the cause of this syndrome [2].
منابع مشابه
Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features.
OBJECTIVE To determine whether the 2 periodic febrile syndromes familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS) are distinct diseases. METHODS Clinical manifestations of the diseases were analyzed by physicians experienced with FMF and HIDS. Serum immunoglobulin (Ig) levels were studied in 70 patients with FMF using nephelometry or ELISA and compared with Ig l...
متن کاملglobulinemia D Syndrome: Two Diseases with Distinct Clinical, Serologic, and Genetic Features
Objective. To determine whether the 2 periodic febrile syndromes familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS) are distinct diseases. Methods. Clinical manifestations of the diseases were analyzed by physicians experienced with FMF and HIDS. Serum immunoglobulin (Ig) levels were studied in 70 patients with FMF using nephelometry or ELISA and compared with Ig l...
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The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. In addition, we studied the quality o...
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The hyperimmunoglobulinemia D syndrome (HIDS) is an autosomal recessive disorder characterized by recurrent febrile attacks with abdominal, articular, and skin manifestations. Apart from elevated immunoglobulin D (IgD) levels (>100 IU/ml), there are high IgA levels in the majority of cases. Mutations in the gene encoding mevalonate kinase constitute the molecular defect in HIDS. The cause of el...
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عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2008