Sufferers with deleterious variants in MYSM1 have an immune deficiency characterised by B-cell lymphopenia, hypogammaglobulinemia, and elevated radiosensitivity. MYSM1 is a histone deubiquitinase with established exercise in regulating gene expression. MYSM1 additionally localizes to websites of DNA damage however its operate in mobile responses to DNA breaks has not been elucidated.
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