Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Abstract
Patients with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC) generate few isotype-switched B cells with severely decreased frequencies of somatic hypermutations (SHMs), but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC patient who displays a rare homozygous missense M466V mutation in β-catenin-like protein 1 (CTNNBL1). Because CTNNBL1 binds activation-induced cytidine...
Paper Details
Title
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Published Date
Jun 2, 2020
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