Skip to main content
IDF logo

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.

Read the latest research

Learn more about combined immune deficiencies.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA