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- W2283622661 abstract "Hyper IgE syndrome is a primary immunodeficiency with variedclinical manifestations. Affected individuals usually sufferfrom eczema, recurrent skin and lung infections, elevated serumIgE, and connective and skeletal abnormalities. Theidentification of mutations in signal transducer and activatorof transcription 3 (STAT3) gene has helped to explain manyaspects of the different phenotypes of this syndrome. Hyper IgEsyndrome is transmitted in an autosomal dominant pattern butthere are also numerous sporadic cases. Our patient was treatedin our department for generalised atopic eczema, with extremelevels of IgE (up to 65 000 kU/l). The patient suffered fromrepeated infections of the skin, chronic rhinosinusitis,allergic rhinitis and conjunctivitis and some craniofacial anddental abnormalities. Due to severity of the illness, systemictreatment with cyclosporine A has been settled. Cyclosporinewas stopped after 6 weeks , mostly due to patient’snon-compliance. The examination in immunology and geneticdepartment revealed a heterozygous missense mutation p.Asn425Asp (c.1273A>G) in the STAT3 gene. This mutation has notbeen published yet, however, it was predicted as a probablydamaging variant using Polyphen in silico prediction tool. Ourpatient had some typical clinical features of hyper IgEsyndrome. The other family members haven´t been examined. Inpatients with hyper IgE syndrome higher levels ofproinflammatory cytokines are produced upon bacterial –derivedantigen stimulation, whereas affected individuals often lackclassic signs and symptoms of invasive infections. Thereforecarefully taken history and examination is necessary. Thespecific treatment of hyper IgE syndrome does not exist, themain point relies on prevention of infection with prophylacticantimicrobials and antiseptics. Genetic counselling is advisedfor families with children suffering from this syndrome." @default.
- W2283622661 created "2016-06-24" @default.
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- W2283622661 date "2015-07-10" @default.
- W2283622661 modified "2023-09-27" @default.
- W2283622661 title "A novel STAT3 gene mutation revealed in a patient with hyperIgE syndrome and severe eczema" @default.
- W2283622661 hasPublicationYear "2015" @default.
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