A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa
Joint Authors
Shrestha, Pragya
Sabharwal, Geetika
Ghaffari, Gisoo
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-08-13
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Shrestha, Pragya& Sabharwal, Geetika& Ghaffari, Gisoo. 2018. A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. Case Reports in Immunology،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1144324
Modern Language Association (MLA)
Shrestha, Pragya…[et al.]. A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. Case Reports in Immunology No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1144324
American Medical Association (AMA)
Shrestha, Pragya& Sabharwal, Geetika& Ghaffari, Gisoo. A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. Case Reports in Immunology. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1144324
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1144324