The more you understand about primary immunodeficiency (PI), the better you can live with the disease or support others in your life with PI. Learn more about PI, including the various diagnoses and treatment options.
Living with primary immunodeficiency (PI) can be challenging, but you’re not alone—many people with PI lead full and active lives. With the right support and resources, you can, too.
Be a hero for those with PI. Change lives by promoting primary immunodeficiency (PI) awareness and taking action in your community through advocacy, donating, volunteering, or fundraising.
Whether you’re a clinician, researcher, or an individual with primary immunodeficiency (PI), IDF has resources to help you advance the field. Get details on surveys, grants, and clinical trials.
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.
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. Additionally, links to other resources and websites are shared for informational purposes only and should not be considered an endorsement by the Immune Deficiency Foundation.
Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition.
Copyright ©2019 by Immune Deficiency Foundation, USA
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