A Neomorphic Mutation in the Interferon Activation Domain of IRF4 Causes a Dominant Primary Immunodeficiency

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The authors reported on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from a multigeneration family with hypogammaglobulinemia, characterizing the immunological consequences of this neomorphic mutation.
[Journal Of Experimental Medicine]
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