Laboratory workup of the five patients
| . | P1 (5 mo) . | P2 (11 mo) . | P3 (7 years) . | P4 (4 years) . | P5 (9 years) . |
|---|---|---|---|---|---|
| IgG (mg/dl) (minimum–maximum) | 1,100 (176–601) | 843 (172–1,069) | 1,830 (608–1,572) | 931 (345–1,236) | 930 (608–1,572) |
| IgA (mg/dl) (minimum–maximum) | 31 (4.4–84) | 332 (11–106) | 138 (33–236) | 50 (14–159) | 66 (33–236) |
| IgM (mg/dl) (minimum—maximum) | 298 (17–105) | 95 (41–173) | 233 (43–207) | 146 (43–207) | 433 (52–242) |
| IgE (IU/ml) | - | 6.8 | 41.6 | - | 13.8 |
| Lymphocyte subset assay | |||||
| CD3 | - | 70% (3,254) | 67.2% (1,927) | 67% (1,370) | 86% (4,078) |
| CD19 | - | 8.1% (375) | 3.6% (104) | 13% (288) | 7% (332) |
| CD56 | - | 18.7% (861) | 28.9% (829) | 18% (386) | 6.5% (309) |
| CD4 | - | 18.7% (861) | 17.8% (512) | 27% (556) | 11% (453) |
| CD8 | - | 35% (1,652) | 40.4% (1,160) | 38% (777) | 86% (3,491) |
| CD4/CD8 | - | 0.75 | 0.44 | 0.72 | 0.13 |
| Whole-exome sequencing | |||||
| Gene | PIK3CD | ||||
| Mutation position | c.3061G>A (p.Glu1021Lys) | c.1332_1333insTGGGCCTG (p.Val445fs) | c.1573G>A (p.Glu525Lys) | c.3061G>A (p.Glu1021Lys) | c.3061G>A (p.Glu1021Lys) |
| Exon | Exon 24 | Exon 10 | Exon 10 | Exon 24 | Exon 24 |
| Zygosity | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Heterozygous |
| Pathogenicity | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic |
| Reported | Refs. 1, 2, 5, 6, 7, 8 | Novel (ACMG criteria PM2, PS2, PVS1, PP5, PP4) | Ref. 2 | Refs. 1, 2, 5, 6, 7, 8 | Refs. 1, 2, 5, 6, 7, 8 |
| . | P1 (5 mo) . | P2 (11 mo) . | P3 (7 years) . | P4 (4 years) . | P5 (9 years) . |
|---|---|---|---|---|---|
| IgG (mg/dl) (minimum–maximum) | 1,100 (176–601) | 843 (172–1,069) | 1,830 (608–1,572) | 931 (345–1,236) | 930 (608–1,572) |
| IgA (mg/dl) (minimum–maximum) | 31 (4.4–84) | 332 (11–106) | 138 (33–236) | 50 (14–159) | 66 (33–236) |
| IgM (mg/dl) (minimum—maximum) | 298 (17–105) | 95 (41–173) | 233 (43–207) | 146 (43–207) | 433 (52–242) |
| IgE (IU/ml) | - | 6.8 | 41.6 | - | 13.8 |
| Lymphocyte subset assay | |||||
| CD3 | - | 70% (3,254) | 67.2% (1,927) | 67% (1,370) | 86% (4,078) |
| CD19 | - | 8.1% (375) | 3.6% (104) | 13% (288) | 7% (332) |
| CD56 | - | 18.7% (861) | 28.9% (829) | 18% (386) | 6.5% (309) |
| CD4 | - | 18.7% (861) | 17.8% (512) | 27% (556) | 11% (453) |
| CD8 | - | 35% (1,652) | 40.4% (1,160) | 38% (777) | 86% (3,491) |
| CD4/CD8 | - | 0.75 | 0.44 | 0.72 | 0.13 |
| Whole-exome sequencing | |||||
| Gene | PIK3CD | ||||
| Mutation position | c.3061G>A (p.Glu1021Lys) | c.1332_1333insTGGGCCTG (p.Val445fs) | c.1573G>A (p.Glu525Lys) | c.3061G>A (p.Glu1021Lys) | c.3061G>A (p.Glu1021Lys) |
| Exon | Exon 24 | Exon 10 | Exon 10 | Exon 24 | Exon 24 |
| Zygosity | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Heterozygous |
| Pathogenicity | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic |
| Reported | Refs. 1, 2, 5, 6, 7, 8 | Novel (ACMG criteria PM2, PS2, PVS1, PP5, PP4) | Ref. 2 | Refs. 1, 2, 5, 6, 7, 8 | Refs. 1, 2, 5, 6, 7, 8 |