IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation

  • Kunihiko Moriya
  • Yoji Sasahara
  • Hidenori Ohnishi
  • Tomoki Kawai
  • Hirokazu Kanegane
Letter to Editor



The authors thank all of our patients and their parents for participating in this study. We also thank Dr. Atsuo Kikuchi for technical assistance.


This work was supported by grants from the Japanese Ministry of Health, Labour and Welfare (H29-013, H29-020) and a grant from the Japan Agency for Medical Research and Development (17ek0109200h0001) to YS.

Compliance with Ethical Standards

Conflict of Interest

The authors have no conflict of interest to declare.

Informed Consent

Written informed consent was obtained from the parents of all patients.

Supplementary material

10875_2018_522_MOESM1_ESM.docx (741 kb)
ESM 1 (DOCX 740 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PediatricsTohoku University Graduate School of MedicineSendaiJapan
  2. 2.Department of Pediatrics, Graduate School of MedicineGifu UniversityGifuJapan
  3. 3.Department of Pediatrics, Graduate School of MedicineKyoto UniversityKyotoJapan
  4. 4.Department of Pediatrics and Developmental Biology, Graduate School of MedicineTokyo Medical and Dental UniversityTokyoJapan

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