Article
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Journal of clinical immunology - 29 Jul 2024
Utsumi Takanori, Tsumura Miyuki, Yashiro Masato, Kato Zenichiro, Noma Kosuke, Sakura Fumiaki, Kagawa Reiko, Mizoguchi Yoko, Karakawa Shuhei, Ohnishi Hidenori, Cunningham-Rundles Charlotte, Arkwright Peter D, Kobayashi Masao, Kanegane Hirokazu, Bogunovic Dusan, Boisson Bertrand, Casanova Jean-Laurent, Asano Takaki, Okada Satoshi
Abstract excerpt
PURPOSE: Transcription factor 3 (TCF3) encodes 2 transcription factors generated by alternative splicing, E12 and E47, which contribute to early lymphocyte differentiation. In humans, autosomal dominant (AD) E47 transcription factor deficiency is an inborn error of immunity characterized by B-cell deficiency and agammaglobulinemia. Only the recurrent de novo p.E555K pathogenic variant has been associated with...
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