Related gene: NSMCE3
Inheritance pattern: Autosomal recessive
An autosomal recessive condition, a lack of this protein causes a type of DNA repair defect called lung disease, immunodeficiency, and chromosome breakage syndrome (LICS). Children with this condition have severe lung disease very early in life and are highly susceptible to viral pneumonia. Distinctive facial features have been reported. Immunoglobulin (Ig) replacement therapy may be indicated.