IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation
To the Editor:
We report two novel heterozygous point mutations, S32R and S32N, in the NFKBIA gene encoding IκBα in two Japanese patients with severe clinical phenotypes of an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID).
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.
Written informed consent was obtained from the parents of all patients.
- 4.Yoshioka T, Nishikomori R, Hara J, Okada K, Hashii Y, Okafuji I, et al. Autosomal dominant anhidrotic dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. J Clin Immunol. 2013;33:1165–74.CrossRefPubMedGoogle Scholar