Clinical Domain Working Groups

Primary Immune Regulatory Disorders Gene Curation Expert Panel

Membership

The focus of the Primary Immune Regulatory Disorders (PIRD) Gene Curation Expert Panel will be to curate genes associated with various inborn errors of immunity that result in immune dysregulation with or without associated immunodeficiencies. The immune dysregulatory disorders or PIRDs are monogenic disorders that are associated loss of inflammatory control and normal mechanisms of immune tolerance with autoimmunity, lymphoproliferation, aberrant lymphocyte cytotoxicity and impaired control of viral (e.g. EBV) infections as predominant features. The PIRD genes are relevant to curate as this is a growing group of the inborn errors of immunity (IEIs) and several of them have molecularly targeted therapeutics available, which can be very effective for disease management. 

Expert Panel Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete Oct. 2022
Expert Panel Approval
Completed Mar. 2023

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.