Table 3.

Summary of results from probands and family member testing.

PROBANDS	AR IEI	XLR IEI	AD IEI	TOTAL
Probands with LP/P variant on panel	4 (3 homozygous; 1 compound heterozygous)	5 (hemizygous males)	3 (heterozygous)	12
Probands with LP/P variant on WES	6 (homozygous or compound heterozygous)	3 (hemizygous males)	3 (heterozygous)	12
Probands total	10 (homozygous or compound heterozygous)	8 (hemizygous males)	6 (heterozygous)	24
FAMILY MEMBERS	AR IEI	XLR IEI	AD IEI	TOTAL
Family members identified as carriers	20 (either through testing or known obligate carrier)	8* (heterozygous females)	0	28
Family member excluded as carriers/affected	n/a	1 (maternal aunt of proband)	6*	7

*All were parents of probands.

VUS, variant of unknown significance; WES, whole exome sequencing; AR, autosomal recessive; XLR, X-linked recessive; AD, autosomal dominant; LP/P, likely pathogenic/pathogenic; IEI, inborn error of immunity.