Obstetric and Gynecological Care in Patients with STAT3-Deficient Hyper IgE Syndrome
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LETTER TO EDITOR
Obstetric and Gynecological Care in Patients with STAT3-Deficient Hyper IgE Syndrome Xenia Parisi 1 & Jenna Bergerson 2 & Amanda Urban 3 & Dirk Darnell 2 & Pamela Stratton 4 & Alexandra F. Freeman 2 Received: 4 May 2020 / Accepted: 15 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, STAT3-deficient hyper IgE syndrome (AD-HIES; Job’s syndrome; STAT3LOF) is a rare primary immune deficiency characterized by elevated serum IgE levels, recurrent skin and lung infections, mucocutaneous candidiasis, and connective tissue, skeletal, and vascular abnormalities [1]. With improved recognition and treatment of infectious complications, affected women are living longer, and gynecologic and obstetric health is becoming increasingly important. Yet, obstetricgynecologic literature focused on women with primary immune deficiency, including STAT3LOF that is sparse. We describe gynecologic and reproductive health including pregnancy in women with STAT3LOF. Patients were enrolled with informed consent on an NIAID Institutional Review Board-approved natural history protocol. Retrospective data were obtained by chart review from 50 women aged 18–66 years (median 32.5) with STAT3LOF, of whom 33 were alive. Twenty six had STAT3 mutations in the SH2 domain, 23 in the DNA binding domain, and one in the transactivation (TA) domain. The surviving women completed a structured questionnaire regarding menstruation history; contraception and conception methods; reproductive tract infections/complications; potential barriers to fertility; severity of pulmonary and dermatological manifestations before, during, and after pregnancy; and obstetric complications
* Alexandra F. Freeman [email protected] 1
Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
2
National Institute of Allergy and Infectious Diseases, National Institutes of Health, NIH Building 10 Room 12C103, 9000 Rockville Pike, Bethesda, MD 20892, USA
3
Clinical Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA
4
Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
and clarified details in follow-up discussions. Denominators varied by information available, such as inability to recall or missing from deceased patients’ charts. Median age of menarche was 12.7 years (range: 10–17.5), similar to the national average of 12.4 years [2]; for most women, menstrual flow and symptoms were comparable with the general population. One woman each reported endometriosis, abnormal uterine bleeding, and uterine fibroids. Four women reached menopause earlier than the US average of 51 years at 38, 40 and 47 years. During menses, four of 32 women (13%, three with SH2 domain STAT3 mutations, one with a DNA binding mutation) reported worsened pulmonary symptoms, manifesting as increased shortness of breath and sputum; 19 of 38 patients
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