Ligase 1 deficiency
Related gene: LIG1
Inheritance pattern: Autosomal recessive
An autosomal recessive condition, it is thought to present very similar to Bloom syndrome. This includes a high sensitivity to sunlight, stunted growth, developmental delay, and high predisposition to cancer. Similarly, they can present with repeated ear and lung infections, for which immunoglobulin (Ig) replacement therapy may be indicated.