Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome
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LETTER TO EDITOR
Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome Sumona Bhattacharya 1 & Hastings Williamson 2 & Amanda K. Urban 3 & Theo Heller 4 & Alexandra F. Freeman 2 Received: 24 April 2020 / Accepted: 20 July 2020 # This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2020
To the Editor, Dominant negative mutations in signal transducer and activator of transcription 3 (STAT3) cause a rare primary immune deficiency, STAT3-deficient hyper-IgE syndrome (STAT3 LOF), characterized by recurrent skin and pulmonary infections, eczematous rashes, and mucocutaneous candidiasis, as well as connective tissue, skeletal, and vascular abnormalities such as scoliosis and craniosynostosis [1]. Gastrointestinal (GI) symptoms are common, with 60% of patients reporting at least one GI symptom in our cohort, most commonly gastroesophageal reflux disease, dysphagia, dysmotility, constipation, and diarrhea [1, 2]. Bowel perforations have been reported infrequently [2, 3]. Recent data has emerged suggesting an increased frequency of gastrointestinal perforation due to tocilizumab, a monoclonal antibody to the interleukin-6 (IL-6) receptor that is approved for use in rheumatoid arthritis and other rheumatologic conditions [4]. Given that IL-6 signals through STAT3 and intestinal perforations have been reported in STAT3 LOF patients, we sought to characterize the incidence and clinical
* Alexandra F. Freeman [email protected] 1
Digestive Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Clinical Research Center, Room 5-2740, Bethesda, MD 20892, USA
2
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Clinical Research Center, Room 12C103, Bethesda, MD 20892, USA
3
Clinical Monitoring Research Program, Frederick National Laboratory for Cancer Research, 10 Center Drive, Clinical Research Center, Room 6D44.32, Bethesda, MD 20892, USA
4
Translational Hepatology Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Clinical Research Center Room 9C432B, Bethesda, MD 20892, USA
presentations of intestinal perforations in our STAT3 LOF cohort. This cohort consists of patients followed on a National Institute of Allergy and Infectious Diseases (NIAID) institutional review board (IRB)-approved natural history study to which all patients, or their guardians, had provided informed consent. We reviewed 158 STAT3 LOF charts and found 10 patients who suffered from a gastrointestinal perforation, for an overall rate of 6.3%. Here, we present one case in detail with each case summarized in Table 1.
Case Descriptions A 32-year-old man with STAT3 LOF (STAT3 mutation R382W) complicated by recurrent pneumonia with bronchiectasis and pneumatoceles, severe tracheomalacia in infancy requiring a trach
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