Table 1.
Details of 45 dried blood spot samples from 43 patients with inborn errors of immunity analyzed in the current study
| Patient | Sample | Age at sampling (months) | Disease | Causative Gene | Causative Protein | Mutation | Protein levels encoded by the mutated gene (relative to ACTB) | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Patient | Healthy newborns | Healthy adults | ||||||
| 1 | 1 | 3 | FHL type 3 | UNC13D | Munc13-4 | c.1596 + 1G > C | c.1255delC, p.Leu419Serfs*23 | 0.143 | Mean, 10.9; SD, 2.6; Min, 5.9 | Mean. 8.2; SD, 3.2; Min, 3.3 |
| 2 | 2 | 266 | c.1596 + 1G > C | c.1240C > T, p.Arg414Cys | 0.192 | |||||
| 3 | 3b | 0 | c.1596 + 1G > C | c.118-308C > T | 0.357 | |||||
| 4 | 4b | 0 | c.1596 + 1G > C | c.1545-2A > G | 0.182 | |||||
| 5 | 5 | 1 | c.754-1G > C | c.1596 + 1G > C | 0.132 | |||||
| 6b | 0 | 0.120 | ||||||||
| 6 | 7 | 4 | c.1849-1G > C | c.1849-1G > C | 0.270 | |||||
| 8b | 0 | 0.360 | ||||||||
| 7a | 9 | 0 | c.1596 + 1G > C | c.1596 + 1G > C | 0.280 | |||||
| 8 | 10b | 0 | c.754-1G > C | c.1596 + 1G > C | 0.190 | |||||
| 9 | 11 | 3 | FHL type 5 | STXBP2 | Munc18-2 | c.1197delC, p.Ala400Profs*18 | c.1430C > T, p.Pro477Leu | 1.120 | Mean, 10.9; SD, 2.1; Min, 4.0 | Mean, 7.8; SD, 2.1; Min, 4.8 |
| 10 | 12 | 1 | FHL type 2 | PRF1 | perforin | c.658G > A, p.Gly220Ser | c.1090_1091delCT, p.Leu364Glufs*93 | 0.290 | Mean, 0.33; SD, 0.28; Min, 0.28 | Mean, 0.30; SD, 0.35; Min, 0.044 |
| 11 | 13 | 2 | c.853_855delAAG, p.Lys285del | c.1090_1091delCT, p.Leu364Glufs*93 | 0.330 | |||||
| 12 | 14 | 9 | HPS type 2 | AP3B1 | AP3B1 | c.2546T > A, p.Leu849X | c.1122_1123insAG, p.Phe375Serfs*11 | 0.183 | Mean, 2.93; SD, 0.88; Min, 1.08 | Mean, 0.91; SD, 0.25; Min, 0.58 |
| 13 | 15 | 102 | c.364C > T, p.Arg122X | c.2810-1G > T | 1.080 | |||||
| 14 | 16 | 38 | c.2546T > A, p.Leu849X | c.188T > A, p.Met63Lys | 0.439 | |||||
| 15 | 17 | 19 | CGD | CYBB | p91-phox | c.1528_1529delTT, p.Leu510Valfs*8 | NA | 0.010 | Mean, 2.63; SD, 1.36; Min, 0.72 | Mean, 0.78; SD, 0.51; Min, 0.30 |
| 16 | 18 | 318 | c.121dupT, p.Tyr41Leufs*62 | NA | 0.020 | |||||
| 17 | 19 | 87 | c.1031C > T, p.Ser344Phe | NA | 0.010 | |||||
| 18 | 20 | 62 | c.252G > A, p.Ala84Ala | NA | 0.024 | |||||
| 19 | 21 | 48 | c.810G > A, p.Trp270X | NA | 0.015 | |||||
| 20 | 22 | 105 | c.271C > T, p.Arg91X | NA | 0.058 | |||||
| 21 | 23 | 213 | CGD | CYBA | p22-phox | c.70G > A, p.Gly24Arg | c.7C > T, p.Gln3X | Below detection limit | Mean, 7.1; SD, 4.1; Min, 1.9 | Mean, 3.5; SD, 1.4; Min, 1.7 |
| 22 | 24 | 132 | CGD | NCF1 | p47-phox | c.75_76delGT, p.Tyr26Hisfs*26 | c.75_76delGT, p.Tyr26Hisfs*26 | 0.010 | Mean, 0.18; SD, 0.099; Min, 0.025 | Mean, 0.10; SD, 0.062; Min, 0.057 |
| 23 | 25 | 12 | WAS | WAS | WASP | c.777 + 3_777 + 6delGAGT | NA | Below detection limit | Mean, 0.098; SD, 0.039; Min, 0.022 | Mean, 0.056; SD, 0.025; Min, 0.024 |
| 24 | 26 | 4 | c.132 + 1G > T | NA | Below detection limit | |||||
| 25 | 27 | 70 | c.982delC, p.Arg328Glyfs*117 | NA | 0.011 | |||||
| 26 | 28 | 226 | c.961C > T, p.Arg321X | NA | Below detection limit | |||||
| 27 | 29 | 6 | c.1075C > A, p.Pro359Thr | NA | Below detection limit | |||||
| 28 | 30 | 26 | XLA | BTK | BTK | c.1574G > A, p.Arg525Gln | NA | 0.005 | Mean, 0.60; SD, 0.16; Min, 0.25 | Mean, 0.39; SD, 0.17; Min, 0.26 |
| 29 | 31 | 36 | c.1856C > T, p.Pro619Leu | NA | 0.004 | |||||
| 30 | 32 | 20 | c.862C > T, p.Arg288Trp | NA | 0.017 | |||||
| 31 | 33 | 386 | c.1921C > T, p.Arg641Cys | NA | 0.029 | |||||
| 32 | 34 | 113 | c.902-904delAAG, p.Glu301del | NA | 0.055 | |||||
| 33 | 35 | 456 | c.95T > C, p.Leu32Ser | NA | 0.002 | |||||
| 34 | 36 | 255 | c.1856C > T, p.Pro619Leu | NA | 0.035 | |||||
| 35 | 37 | 0 | SCID | ADA | ADA1 | c.218 + 2T > G | c.218 + 2 T > G | 0.040 | Mean, 0.075; SD, 0.054; Min, 0.014 | Mean, 0.18; SD, 0.096; Min, 0.047 |
| 36 | 38 | 3 | c.218 + 2T > G | c.632G > A, p.Arg211His | 0.108 | |||||
| 37 | 39 | 0 | X-SCID | IL2RG | IL2Rγ | c.865C > T, p.Arg289X | NA | Below detection limit | NA | NA |
| 38 | 40 | 2 | c.374A > G, p.Tyr125Cys | NA | Below detection limit | |||||
| 39 | 41b | 0 | CHS | LYST | LYST | c.1673dupT, p.Leu558Phefs*22 | c.5506C > T, p.Arg1836X | 0.003 | Mean, 0.056; SD, 0.035; Min, 0.01 | Mean, 0.025; SD, 0.018; Min, 0.075 |
| 40 | 42 | 213 | c.3393 + 1G > T | c.3393 + 1G > T | 0.016 | |||||
| 41 | 43 | 373 | c.5541_5542delAA, p.Arg1848Serfs*3 | unknown | 0.012 | |||||
| 42 | 44 | 346 | c.5541_5542delAA, p.Arg1848Serfs*3 | unknown | 0.009 | |||||
| 43 | 45 | 346 | c.5541_5542delAA, p.Arg1848Serfs*3 | unknown | 0.026 | |||||
FHL familial hemophagocytic lymphohistiocytosis, HPS Hermansky-Pudlak syndrome, CGD chronic granulomatous disease, WAS Wiskott-Aldrich syndrome, XLA X-linked agammaglobulinemia, X-SCID X-linked SCID, CHS Chédiak-Higashi syndrome, NA not applicable
aFetal-onset case
bSamples were obtained from pateints before symptoms appeared and have been used for public screening of metabolic diseases