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Two Prenatal Cases of Hyper-IgE Syndrome

  • Makiko Egawa
  • Kohsuke Imai
  • Yoko Taketani
  • Tomohiro Morio
  • Naoyuki Miyasaka
Letter to Editor
  • 30 Downloads

To the Editor:

Background

Autosomal dominant hyper-IgE syndrome (AD-HIES), a rare primary immunodeficiency disorder caused by mutations in STAT3 (signal transducer and activator of transcription factor 3), is characterized by recurrent staphylococcal skin abscesses, pulmonary infections, and high serum IgE concentrations [1]. There are few reports on pregnancy and childbirth in women with AD-HIES. Here, we report the pregnancies of two women with AD-HIES whose infants had the same STAT3 mutation.

Case Reports

Patient 1 was a 37-year-old Japanese woman in her first pregnancy. She had had recurrent pulmonary infections, sinusitis, and severe atopic dermatitis from soon after birth. At age 16, she was diagnosed with HIES on the basis of high serum IgE concentrations and typical clinical findings, after which she was started on prophylactic antibiotics (trimethoprim/sulfamethoxazole [TMP/SMX], fluconazole, and clarithromycin). At age 36, she consulted our Obstetrics Department about having...

Notes

Acknowledgments

We thank the patients who participated in this study.

Authors’ Contributions

ME wrote the manuscript and managed the pregnancies. KI and TM orchestrated the patients’ care. KI and YT reviewed the manuscript. All authors reviewed the manuscript and approved the final version.

Funding Information

This work was partially supported by the Japan Ministry of Health, Labor, and Welfare (201711064A) and the AMED under Grant Number JP18ek0109218.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflicts of interest.

Research Involving Human Participants

All procedures performed in the study were in accordance with the Helsinki principles.

Informed Consent

Written informed consent was obtained from both patients here presented.

Supplementary material

10875_2018_588_MOESM1_ESM.pptx (63 kb)
Supplemental Figure 1 Changes in serum IgG and IgE concentrations in the two neonates. (PPTX 63 kb)

References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medical and Dental SciencesTokyo Medical and Dental UniversityTokyoJapan
  2. 2.Comprehensive Reproductive Medicine, Graduate School of Medical and Dental SciencesTokyo Medical and Dental UniversityTokyoJapan
  3. 3.Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental SciencesTokyo Medical and Dental UniversityTokyoJapan

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