A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome
نویسندگان
چکیده
منابع مشابه
Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India.
BACKGROUND Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by the triad of elevated IgE and eosinophilia, eczema and recurrent skin and pulmonary infections. Mutation in the STAT3 gene accounts for majority of the autosomal dominant and sporadic forms of HIES. OBJECTIVE To report clinical and molecular analyses of patients with Hyper IgE syndrome from a sin...
متن کاملHyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China
Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relativ...
متن کاملSTAT3 and the Hyper-IgE syndrome
During recent years a number of primary immunodeficiencies resulting from impaired function of JAK-STAT molecules have been described. One of these is the Hyper-IgE syndrome (HIES) characterized by elevated IgE levels, eczema, recurrent staphylococcal skin and pulmonary infections and pleiotropic somatic manifestations. In 2007 the genetic basis of HIES was revealed by identification of dominan...
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Background: Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job`s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome.Case Presentation: A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of pso...
متن کاملCutis verticis gyrata in a patient with hyper-IgE syndrome.
© 2009 The Authors. doi: 10.2340/00015555-0652 Journal Compilation © 2009 Acta Dermato-Venereologica. ISSN 0001-5555 Sir, Cutis verticis gyrata (CVG) is a rare morphological condition of the scalp characterized by ridges and furrows resembling the surface of the brain. We report here a case of CVG in a patient with hyper-IgE syndrome, which is a multisystem disorder known to affect the dentitio...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2019
ISSN: 2296-2360
DOI: 10.3389/fped.2019.00130