Novel DNMT3B Mutation in a Patient with Immunodeficiency, Cent | NIIMA, Network of Immunity in Infection, Malignancy and Autoimmunity

Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery

New Paper by USERN Interest Group

This article describes a novel homozygous DNMT3B mutation in an Iranian boy with ICF1. It is associated with recurrent infections, hypogammaglobinemia, neutropenia, mild facial anomalies, and a bronchopulmonary collateral artery.

Source: https://doi.org/10.2174/1871530322666220822141722

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