A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a paucity of connective tissue signs

Background A heterozygous mutation of STAT3 causes autosomal dominant hyper immunoglobulin E (IgE) syndrome; however, there are still many unclear points regarding the clinical spectrum of this syndrome. Methods In addition to a clinical description of patients in terms of pedigree, a genetic analys...

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Veröffentlicht in:	Pediatrics international 2021-05, Vol.63 (5), p.510-515
Hauptverfasser:	Yoshida, Yoichiro, Nagamori, Tsunehisa, Takahashi, Hironori, Ishibazawa, Emi, Shimada, Sorachi, Kawai, Toshinao, Azuma, Hiroshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Atopic dermatitis autosomal dominant hyper IgE syndrome Bacterial infections Child, Preschool Connective Tissue connective tissue sign Connective tissues Eczema Genetic analysis Helper cells Heterozygote Humans Hypersensitivity Immunoglobulin E Immunoglobulins Job Syndrome - complications Job Syndrome - diagnosis Job Syndrome - genetics Job's syndrome Lymphocytes T Male Mutation Patients Pediatrics Peripheral blood Quantitation Skin STAT3 mutation Stat3 protein STAT3 Transcription Factor - genetics Th17 subset
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