Clinical Domain Working Groups
SCID-CID Gene Curation Expert PanelMembership
Severe Combined Immune Deficiency (SCID) and Combined Immune Deficiency (CID) loom among the most severe inborn errors of immunity. The term “combined” indicates that patients with these disorders have defects in both T cell and B cell function. They are generally susceptible to viral or fungal infections AND are unable to make normal antibody responses, so they develop bacterial infections.
The IUIS Inborn Errors of Immunity (IEI) Committee was originally created under the auspices of the World Health Organization in 1973 to describe and classify the types of primary immune defects (PIDDs) affecting humans. The committee is tasked with maintaining a list of immunologic disorders. Since the 1970s, it has maintained a curated list to ensure a standard nomenclature and consistent approach. After discovery of the first genetic defects associated with PIDD, the committee has also maintained a list of genes that have been associated with IEI in peer-reviewed published reports. This list is updated approximately every 3 years and published online and in print. The most recent update was performed in 2019 and published in January 2020. It lists 430 genes that have been associated with IEI in peer-reviewed publications. These 430 genes are divided across 10 tables based on their associations with various clinical immunodeficiency phenotypes.
This GCEP will focus only on those genes associated with a SCID or CID phenotype included in Tables 1 and 2 of the IUIS document, which include approximately 80 - 120 genes (after applying the ClinGen Lumping and Splitting guidelines).
Expert Panel Status - Approved Expert Panel
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.