Clinical Domain Working Groups

Humoral Defects Gene Curation Expert Panel


The focus of the Humoral defects Gene Curation Expert Panel will be to curate genes associated with various inborn errors of immunity that result in antibody deficiencies (decrease in one or more immunoglobulin isotypes) with or without quantitative B cell defects and other phenotypic manifestations. The gene list contains 41 genes primarily derived from the 2019 IUIS classification (Tangye et al, J Clin Immunol, 2020, 40: 24-64). The gene list has been organized in order of priority for curation. Inborn errors of immunity represent monogenic defects affecting various components of the immune system resulting in a multitude of clinical phenotypes with variable expressivity and penetrance, as well as inheritance patterns. Humoral deficiencies include those genes that predominantly affect the B cell compartment.

Expert Panel Status - Approved Expert Panel

Step 1
Step 2
Define Group
Expert Panel Approval
Completed Oct. 2020

Expert Panel Membership

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


Please contact a coordinator if you have questions.