Table 1.

Summary of the results of the diagnostic analysis and its validation analysis.

Patient ID	Pathogenic gene	Variants detected in prior genetic analysis	Results of diagnostic analysis	Genomic variants detected in follow-up analysis	Supportive laboratory findings
B1_P21	BTK	No pathogenic variants	Decreased protein and mRNA expression levels	c.-196+1G>T (variant in splice-site and cis-regulatory region)	B-cell defects via flow cytometry (0.1% of total lymphocytes)
B1_P22	XIAP	No pathogenic variants	Decreased protein and mRNA expression levels	Large deletion in promoter region (36)	Decreased XIAP expression in RT–PCR and WB (36)
B1_P29	ADA2	c.982G>A: p.Glu328Lys (heterozygous)	Decreased expression only at the protein level	Aberrant splicing with intoronic variant of c.972+102T>G Allele specific expression	Decreased ADA2 activity (37)
B2_P35	LRBA	c.1219_1220del: p.Leu408Valfs*7 (heterozygous)	Decreased expression only at the protein level	Being analyzed	Decreased CTLA4 expression in Tregs Decreased LRBA expression via WB

RT–PCR, reverse transcription PCR; WB, Western blotting; CTLA4, cytotoxic T-lymphocyte associated protein 4; Tregs, regulatory T cells.