AI Article Synopsis
- Hyperimmunoglobulin E syndrome (HIES) is a rare immune disorder causing severe skin and respiratory infections and involves high levels of immunoglobulin E.
- A patient with a known STAT3 deficiency related to HIES had extraimmune symptoms like unique facial features, skeletal fractures, and episodes of pancreatitis.
- Research indicates that STAT3 plays a crucial role in pancreatic health, and while mouse studies show STAT3 mutations worsen pancreatitis, the link in humans has not been fully established until this case was reported.
Article Abstract
Background: Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin infections with abscesses, recurrent pneumonias with pneumatoceles, and immunoglobulin E levels of >10 times the upper limit of normal.
Case: The patient described herein had a classic case of signal transducer and activator of transcription 3 (STAT3) deficiency associated with HIES diagnosed several years before this particular presentation. He demonstrated extraimmune manifestations of the disease as well, including characteristic facies and a history of skeletal fractures. In addition, the patient had several distinct episodes of idiopathic pancreatitis for which a full gastrointestinal workup had been performed. STAT3 mutation was confirmed by genotyping at the time of diagnosis of HIES.
Conclusions: STAT3, a mammalian protein that regulates cell growth, survival, and differentiation, has been linked to human pancreatic carcinogenesis as well as the above-mentioned immune deficiency. Mouse studies demonstrated that genetic ablation of STAT3 exacerbates the course of acute pancreatitis, whereas normal pancreatic STAT3 seems to have a protective effect against necrotizing pancreatitis. An association between STAT3 mutations and pancreatitis has not yet been revealed in humans. Here we describe a case of acute pancreatitis that presented in a patient with STAT3 mutation.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4837134 | PMC |
| http://dx.doi.org/10.2500/ar.2016.7.0148 | DOI Listing |
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