Pedigrees of families with IKZF1 mutations. Families C and F are shown. Female (circle) and male (square) individuals are shown in the 2 pedigrees and the shaded shapes indicate individuals who are affected by a CVID-like syndrome due to heterozygous IKZF1 mutations. Individuals with hematologic phenotypes available are labeled in the pedigrees and correspond to the labeling shown in Table 1. *Indicates individuals who are clinically unaffected, but for whom molecular testing results are not yet available.