Title of article
A Novel STAT3 Gene Mutation Related Hyper-IgE SyndromeMisdiagnosed as Hidradenitis Suppurativa
Author/Authors
Shrestha, Pragya Internal Medicine Department - Reading Hospital-Tower Health System - Reading - PA, USA , Sabharwal, Geetika Division of Pulmonary - Allergy - and Critical Care Medicine - Penn State College of Medicine - Hershey - PA, USA , Ghaffari, Gisoo Division of Pulmonary - Allergy - and Critical Care Medicine - Penn State College of Medicine - Hershey - PA, USA
Pages
5
From page
1
To page
5
Abstract
Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lungand skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletalabnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical examcan guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics canprevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of ayoung female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing historyof intractable skin abscesses being managed as Hidradenitis Suppurativa
Keywords
Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome , Misdiagnosed , Hidradenitis Suppurativa , Although Hyper-IgE Syndrome (HIES)
Journal title
Case Reports in Immunology
Serial Year
2018
Full Text URL
Record number
2612516
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