Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation
Joint Authors
Hernandez, German T.
Said, Sarmad
Cooper, Chad J.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-05
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background.
Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections.
The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders.
Case Report.
A 23-year-old Hispanic presented with history of frequent respiratory and gastrointestinal infections as a child and multiple episodes of skin and lung infections (abscess) with Staphylococcus aureus throughout his adult life.
He had multiple eczematous lesions and folliculitis over his entire body, oral/esophageal candidiasis, and retention of his primary teeth.
The IgE was elevated (>5000 IU/mL).
Genetic mutation analysis revealed a mutation affecting the transactivation domain of the STAT3 gene.
Conclusion.
The hallmark of hyper IgE syndrome is serum IgE of >2000 IU/mL.
Hyper IgE syndrome is a genetic disorder that is either autosomal dominant or recessive.
A definite diagnosis can be made with genetic mutation analysis, and in this case, it revealed a very rare finding of the transactivation domain STAT3 mutation.
Hyper IgE syndrome is a challenge for clinicians in establishing a diagnosis in suspected cases.
American Psychological Association (APA)
Cooper, Chad J.& Said, Sarmad& Hernandez, German T.. 2014. Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. Case Reports in Immunology،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-448591
Modern Language Association (MLA)
Cooper, Chad J.…[et al.]. Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. Case Reports in Immunology No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-448591
American Medical Association (AMA)
Cooper, Chad J.& Said, Sarmad& Hernandez, German T.. Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. Case Reports in Immunology. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-448591
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-448591