Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation

Capsule summary: A novel heterozygous mutation T398M in IKZF1 was identified in two patients with immune dysregulation symptoms. Our study shows that this mutation by impacting the phosphorylation of IKZF1 represents a novel gain-of-function mechanism by loss-of-phosphorylation (GOF-LOP).

Source: Journal of Allergy and Clinical Immunology - March 2, 2024 Category: Allergy & Immunology Authors: Akihiro Hoshino, Beno ît Heid Picard, Sophia Polychronopoulou, Charikleia Kelaidi, Saba Azarnoush, Sven Kracker, Frédéric Rieux-Laucat, David Boutboul, Sylvain Latour Source Type: research