Table 3.
Gene variants classified as ACMG risk factor and other characteristics for 33 individuals.
| Pt # | Cause of death | GA (w) | Birth weight (kg) | Sex | Age (w) | Sudden death (<24h) | TREC (μl) | Significant findings | Gene | Reference sequence | Inh IEI | Variant | GnomAD v4.0 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 4 | SIDS | 35 | 2 | Boy | 6 | Yes | 200 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 9 | SIDS | 40 | 4 | Girl | 19 | Yes | 246 | None | MBL2 | NM_001378373.1 | AD | c.154C>T(;)161G>A, p.Arg52Cys(;)Gly54Asp | 0.064(;)0.139 |
| 13 | SIDS | 36 | 2 | Boy | 11 | Yes | 189 | Lymphoid interstitial pneumonia | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 14 | SIDS | 40 | 4 | Girl | 9 | Yes | 182 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 28 | SIDS | 36 | 3 | Boy | 5 | Yes | 267 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 35 | SIDS | 32 | 2 | Boy | 3 | Yes | 82 | Elevated cotinine levels | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 36 | SIDS | 40 | 3 | Boy | 8 | Yes | 285 | None | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 38 | SIDS | 40 | 4 | Boy | 6 | Yes | 329 | None | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 40 | SIDS | 41 | 3 | Girl | 0 | Yes | 198 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 41 | SIDS | 34 | 2 | Boy | 15 | Yes | 145 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 42 | SIDS | 36 | 3 | Boy | 43 | Yes | 203 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 43 | SIDS | 39 | 3 | Boy | 8 | Yes | 279 | Elevated alloisoleucine | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 44 | SIDS | 36 | 3 | Boy | 16 | Yes | 231 | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 45 | SIDS | na | na | Boy | 75 | Yes | np | None | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 53 | SIDS | 38 | 3 | Boy | 13 | Yes | 250 | None | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 55 | SIDS | 37 | 3 | Boy | 16 | Yes | 125 | Thymus hypoplasia | MASP2 | NM_006610.4 | AR | c.1921G>A, p.Asp641Asn | 0.0002 |
| 3 | Infection | 38 | 4 | Girl | 61 | Yes | 268 | Haemophilus influenzae pneumonia | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 10 | Infection | 42 | 5 | Boy | 4 | na | 33 | na | MBL2 | NM_001378373.1 | AD | c.161G>A, p.Gly54Asp | 0.139 |
| 15 | Infection | 41 | 4 | Girl | 9 | No | 216 | Extensive lung fibrosis, purulent tracheobronchitis | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 22 | Infection | 40 | 4 | Boy | 53 | na | 170 | Streptococcus pyogenes septicemia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 23 | Infection | 31 | 2 | Boy | 2 | na | 172 | Septicemia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 25 | Infection | 35 | 2 | Girl | 79 | na | 28 | Bacterial pneumonia | MBL2 | NM_001378373.1 | AD | c.154C>T(;)161G>A, p.Arg52Cys(;)Gly54Asp | 0.064(;)0.139 |
| 32 | Infection | 39 | 4 | Boy | 1 | na | 180 | na | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 33 | Infection | 31 | 2 | Boy | 2 | Yes | 125 | Multidrug-resistant Escherichia coli septicemia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 34 | Infection | 30 | 2 | Boy | 5 | na | 106 | Bacterial pneumonia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 37 | Infection | 39 | 3 | Boy | 1 | Yes | 499 | Group B Streptococcus septicemia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 39 | Infection | 36 | 3 | Girl | 2 | Yes | 229 | Group B Streptococcus septicemia | MBL2 | NM_001378373.1 | AD | c.154C>T, p.Arg52Cys | 0.064 |
| 46 | Infection | 37 | 4 | Boy | 78 | Yes | 121 | na | MBL2 | NM_001378373.1 | AD | c.161G>A;(161G>A), p.Gly54Asp;(Gly54Asp) | 0.139 |
| 47 | Infection | 41 | 3 | Boy | 4 | Yes | 517 | Group B Streptococcus septicemia | MBL2 | NM_001378373.1 | AD | c.161G>A;(161G>A), p.Gly54Asp;(Gly54Asp) | 0.139 |
| 48 | Infection | 29 | 1 | Boy | 7 | na | 192 | Cytomegalovirus viremia | MBL2 | NM_001378373.1 | AD | c.161G>A;(161G>A), p.Gly54Asp;(Gly54Asp) | 0.139 |
Pt, patient; GA, gestational age; w, week; kg, kilogram; h, hour; TREC, T-cell receptor exicion circles; µl, microliter; Inh, inheritance; IEI, inborn errors of immunity; GnomAD v4.0, genome aggregation database version 4.0; SIDS, sudden infant death syndrome; AD, autosomal dominant; AR, autosomal recessive; na, not available; np, not performed.