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

Capsule abstract: A novel heterozygous mutation T398M in IKZF1 was recognized in two sufferers with immune dysregulation signs. Our research reveals that this mutation by impacting the phosphorylation of IKZF1 represents a novel gain-of-function mechanism by loss-of-phosphorylation (GOF-LOP).

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