Informace o publikaci

A novel STAT3 gene mutation revealed in a patient with hyper IgE syndrome and severe eczema



Rok publikování 2015
Druh Konferenční abstrakty
Popis Hyper IgE syndrome is a primary immunodeficiency with varied clinical manifestations. Affected individuals usually suffer from eczema, recurrent skin and lung infections, elevated serum IgE, and connective and skeletal abnormalities. The identification of mutations in signal transducer and activator of transcription 3 (STAT3) gene has helped to explain many aspects of the different phenotypes of this syndrome. Hyper IgE syndrome is transmitted in an autosomal dominant pattern but there are also numerous sporadic cases. Our patient was treated in our department for generalised atopic eczema, with extreme levels of IgE (up to 65 000 kU/l). The patient suffered from repeated infections of the skin, chronic rhinosinusitis, allergic rhinitis and conjunctivitis and some craniofacial and dental abnormalities. Due to severity of the illness, systemic treatment with cyclosporine A has been settled. Cyclosporine was stopped after 6 weeks , mostly due to patient’s non-compliance. The examination in immunology and genetic department revealed a heterozygous missense mutation p.Asn 425Asp (c.1273A>G) in the STAT3 gene. This mutation has not been published yet, however, it was predicted as a probably damaging variant using Polyphen in silico prediction tool. Our patient had some typical clinical features of hyper IgE syndrome. The other family members haven´t been examined. In patients with hyper IgE syndrome higher levels of proinflammatory cytokines are produced upon bacterial –derived antigen stimulation, whereas affected individuals often lack classic signs and symptoms of invasive infections. Therefore carefully taken history and examination is necessary. The specific treatment of hyper IgE syndrome does not exist, the main point relies on prevention of infection with prophylactic antimicrobials and antiseptics. Genetic counselling is advised for families with children suffering from this syndrome.

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