Table 2.
Pathogenic variants classified as ACMG 5 in autosomal recessive genes and other characteristics for 18 individuals.
| Pt # | Cause of death | GA (w) | Birth weight (kg) | Sex | Age (w) | TREC (μl) | Sudden death (<24h) | Significant findings | Gene | Reference sequence | Inh IEI | Variant | GnomAD v4.0 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 4 | SIDS | 35 | 2 | Boy | 6 | 200 | Yes | None | TNFRSF13B (TACI) | NM_012452.3 | AD/AR | c.542C>A, p.Ala181Glu | 0.0054 |
| 5 | SIDS | 38 | 3 | Girl | 3 | 215 | Yes | na | C9 | NM_001737.5 | AR | c.162C>A, p.Cys54* | 0.0012 |
| 6 | SIDS | 40 | 3 | Boy | 3 | 215 | Yes | None | SPINK5 | NM_006846.4 | AR | c.891C>T, splice defect | 5.10e-05 |
| 7 | SIDS | 39 | 3 | Girl | 8 | 352 | Yes | None | C2 | NM_000063.6 | AR | c.841_849+19del, p.Val281_Arg283del | 0.0057 |
| 14 | SIDS | 40 | 4 | Girl | 9 | 182 | Yes | None | AIRE | NM_000383.4 | AR (LOF) | c.1249_1250insC, p.Leu417Profs*7 | 1.52e-05 |
| 17 | SIDS | 40 | 3 | Girl | 77 | 295 | Yes | None | CD247 | NM_198053.3 | AR | c.301C>T, p.Gln101* | 0.00027 |
| 19 | SIDS | 39 | 3 | Boy | 24 | 224 | Yes | None | TNFRSF13B (TACI) | NM_012452.3 | AD/AR | c.542C>A, p.Ala181Glu | 0.0054 |
| 55 | SIDS | 37 | 3 | Boy | 16 | 125 | Yes | Thymus hypoplasia | C6 | NM_000065.5 | AR | c.1352dupA, p.Tyr451* | 0.0001 |
| 3 | Infection | 38 | 4 | Girl | 61 | 268 | Yes | Haemophilus influenzae pneumonia | UNC13D | NM_199242.3 | AR | c.2695C>T, p.Arg899* | 1.35e-05 |
| 10 | Infection | 42 | 4 | Boy | 4 | 33 | na | na | CARMIL2 | NM_001013838.3 | AR | c.245de1,p.Pro82Leufs*127 | 0 |
| 11 | Infection | 30 | 1 | Boy | 3 | 366 | na | Septicemia | SKIC3 (TTC37) | NM_014639.4 | AR | c.3625C>T, p.Arg1209* | 4.34e-05 |
| 15 | Infection | 41 | 4 | Girl | 9 | 216 | No | Extensive lung fibrosis, purulent tracheobronchitis | C8A | NM_000562.3 | AR | c.1492C>T, p.Arg498* | 1.36e-05 |
| 16 | Infection | 38 | 2 | Boy | 18 | 42 | Yes | Unbalanced chromosomal aberration | G6PD | NM_001360016.2 | XL | c.563C>T, p.Ser188Phe | 0.0014 |
| FCN3 | NM_003665.4 | AR | c.70C>T, p.Gln24* | 8.05e-06 | |||||||||
| 22 | Infection | 40 | 4 | Boy | 53 | 170 | na | Streptococcus pyogenes septicemia | C9 | NM_001737.5 | AR | c.162C>A, p.Cys54* | 0.0012 |
| 23 | Infection | 31 | 2 | Boy | 2 | 172 | na | na | ZAP70 | NM_001079.4 | AR | c.747C>A, p.Cys249* | 1.59e-06 |
| 24 | Infection | 39 | 3 | Girl | 71 | 160 | No | Necrotizing encephalopathy | GBA | NM_000157.4 | AR | c.1226A>G, p.Asn409Ser | 0.001997 |
| 25 | Infection | 35 | 2 | Girl | 79 | 28 | na | Bacterial pneumonia | STAT5B | NM_012448.4 | AR (LOF) | c.616C>T, p.Gln206* | 0 |
| 31 | Infection | na | na | Girl | 68 | np | No | Haemophilus influenzae Acute pneumonia | TMC8 | NM_152468.5 | AR | c.1481del, p.Leu494Argfs*5 | 0.00025 |
Pt, patient; w, week; kg, kilogram; h, hour; TREC, T-cell receptor exicion circles; GA, gestational age; GnomAD v4.0, genome aggregation database version 4.0; Inh, inheritance; IEI, inborn errors of immunity; SIDS, sudden infant death syndrome; AD, autosomal dominant; AR, autosomal recessive; LOF, loss-of-function variant; na, not available; RF, risk factor; VUS, variants of uncertain significance; XL, X-linked; 2, likely benign 3, VUS; 4, likely pathogenic; 5, pathogenic; np, not performed.(*) indicates a translation termination codon (stop codon) according to HGVS nomenclature.