A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. (13th August 2018)

• Record Type: Journal Article
• Authors: Shrestha, Pragya; Sabharwal, Geetika; Ghaffari, Gisoo
• Other Names: Plebani Alessandro Academic Editor.
• Is Part Of: Case reports in immunology. Volume 2018(2018)
• Publication Date: 2018-08-13
• Subjects: Immunology -- Periodicals; Immunology -- Case studies -- Periodicals; Immune System Phenomena; Immunology; Immunology; Case studies; Periodicals; 571.96
• DOI: 10.1155/2018/4860902
• Languages: English
• ISSNs: 2090-6609

Abstract

Abstract : Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.