hyperimmunoglobulinemia E syndrome
- hyperimmunoglobulinemia E syndrome
- (HIES) hyper-IgE syndrome: 1. a primary immunodeficiency disorder caused by mutations of the STAT3 gene (see STAT). It is usually of autosomal dominant inheritance but sometimes occurs sporadically and is characterized by recurrent staphylococcal abscesses of skin, lungs, joints, and other sites; pruritic dermatitis; distinctive coarse facies; retained primary dentition; skeletal abnormalities; eosinophilia; and very high serum immunoglobulin E (IgE) levels. Called also Buckley s. and Job s. 2. an autosomal recessive syndrome that is clinically similar to the autosomal dominant form but lacks the skeletal abnormalities.
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2011.
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hyperimmunoglobulinemia D syndrome — (HIDS), hyperimmunoglobulinemia D with periodic fever syndrome an autoinflammatory disease (q.v.) inherited as an autosomal recessive trait, caused by mutations in the gene for mevalonate kinase, with onset usually before one year of age. It is… … Medical dictionary
hyperimmunoglobulinemia D — an abnormal elevation of immunoglobulin D in the serum; see hyperimmunoglobulinemia D syndrome, under syndrome … Medical dictionary
hyperimmunoglobulinemia E — extremely high levels of immunoglobulin E in the serum, associated with cutaneous anergy and deficient antibody response; see hyperimmunoglobulinemia E syndrome, under syndrome … Medical dictionary
Hyperimmunoglobulinemia D with recurrent fever — (commonly abbreviated as HIDS) is a periodic fever syndrome originally described in 1984 by the internist Prof. Jos van der Meer, then at Leiden University Medical Centre. No more than 300 cases have been described worldwide.FeaturesHIDS is one… … Wikipedia
Hyper-IgE syndrome — Infobox Disease Name = Hyper IgE syndrome Caption = DiseasesDB = 29572 ICD10 = ICD10|D|82|4|d|80 ICD9 = ICD9|288.1 ICDO = OMIM = 29572 OMIM mult = OMIM2|147060 | MedlinePlus = eMedicineSubj = derm eMedicineTopic = 845 eMedicine mult =… … Wikipedia
Buckley's syndrome — Buck·ley s syndrome (bukґle) [Rebecca H. Buckley, American physician, born 1933] hyperimmunoglobulinemia E syndrome … Medical dictionary
Buckley syndrome — hyperimmunoglobulinemia E s … Medical dictionary
hyper-IgE syndrome — hyperimmunoglobulinemia E s … Medical dictionary
Job syndrome — hyperimmunoglobulinemia E s … Medical dictionary
PAPA syndrome — Classification and external resources OMIM 604416 DiseasesDB 32724 PAPA syndrome is an acronym for pyogenic arthritis … Wikipedia
