A possible founder IRAK4 variant in Okinawa, Japan
Open Access
- 15 September 2026
- journal article
- Published by Rockefeller University Press in Journal of Human Immunity
- Vol. 2 (6)
Abstract
A cluster of cases of IRAK4 deficiency has been identified in Okinawa Prefecture, Japan. All affected families carry the homozygous c.123_124insA variant, suggesting a founder effect and supporting the implementation of targeted newborn screening of IRAK4 deficiency in Okinawa.Keywords
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