ANKRD2 and myopathy: Because very little ANKRD2 (UniProtKB: Q9GZV1) is detected in the human brain (31) and primary immunodeficiency is caused by missense changes in the gene (32), the p.(R328W) variant appears unlikely to be responsible for ID in family A. However, because ANKRD2 is upregulated in congenital myopathies (33), p.(R328W) homozygosity may contribute to myopathy in family A.