[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review].
Hyper-IgE syndrome (HIES) is a primary immunodeficiency (PID) characterized by recurrent skin abscesses (S. aureus), recurrent pneumonia with pneumatocele formation, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). HIES is a sporadic disease, however, two distinct entities - classic HIES inherited in an autosomal dominant pattern (AD HIES), and an autosomal recessive HIES (AR HIES) have been described. Some cases of AD HIES with predominant pulmonary manifestation are caused by mutation in STAT3 gene. It is important to differentiate cases of atopic dermatitis and AD HIES where it is necessary to implement antibacterial and antifungal prophylaxis. Opportunity of performing genetic analysis in suspicion of AD HIES leads to definitive diagnosis of the disease and earlier institution of appropriate treatment. We present the case of a 22-year-old patient with typical course of autosomal dominant hyper-IgE syndrome, confirmed in the Royal Free Hospital, University College London, UK, by finding mutation in STAT3 gene.
Heropolitańska-Pliszka
Edyta
E
Oddział Immunologii, Klinika Gastrologii, Hepatologii i Immunologii, Instytut ''Pomnik-Centrum Zdrowia Dziecka'', Al. Dzieci Polskich 20, 04-730 Warszawa. oddzial.immunologia@czd.pl
Pietrucha
Barbara
B
Mikołuć
Bozena
B
Bernatowska
Ewa
E
D000328:Adult; D006801:Humans; D007589:Job Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics*
D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human