The baculoviral IAP repeat-containing 3 (BIRC3) gene encodes the Cellular Inhibitor of Apoptosis Protein 2 (cIAP2) a regulator of innate immune pathways including TNFα receptor signaling. We identified 5 heterozygous and 3 homozygous rare damaging BIRC3 variants in 13 patients from 9 independent fam...
ORGANISM(S): Mus musculus Danio rerio