Table 3.
Genotype summary of 36 children with SCID.
| Defect | Gene | Patient | Mutation | Protein effect | Exon | Type | Zygosity |
|---|---|---|---|---|---|---|---|
| Recondition activating gene | RAG1 RAG1 |
4,28,36 7,35 |
c.1187G>A c.2924G>C |
p.(Arg396His) p.(Arg975Pro) |
2 NA |
Missense Missense |
Homozygous Homozygous |
| Major histocompatibility complex type II | CIITA CIITA RFXANK RFX5 |
9,10, 18 5 15 |
c.3215T>C Chr16:10907596-10907803del c.634C>T c.446G>A |
p.(Met1072Thr) GRCH38 p.(Arg212Ter) p.(Arg149Gln) |
17 NA 9 NA |
Missense NA Nonsense NA |
Heterozygous Homozygous Homozygous Homozygous |
| Interleukin-7 receptor | IL7R | 6,13,16, 27 | c.616C>T | p.(Arg206) | 5 | Nonsense | Homozygous |
| Adenosine deaminase | ADA ADA ADA |
17 14,19 24 |
c.910del c.815G>A c.646G>A |
p.(Leu304Trpfs7) p.(Trp272) p.(Gly216Arg) |
10 NA 7 |
Frameshift Stop gain Missense |
Homozygous Homozygous Homozygous |
| Janus kinase 3 | JAK3 JAK3 JAK3 |
30 30 6,22 |
c.2490+1G>A c.1645C>T c.1613G>A |
NR p.(Arg549) p.(Gly538Asp) |
18 NA 12 |
Splicing Nonsense Missense |
Compound Heterozygous Compound Heterozygous Homozygous |
| CD3 epsilon | CD3E | 11,31 | c.351A>C | p.Arg117Ser | 6 | NA | Homozygous |
| Interleukin-2 receptor gamma | IL2RG | 1, 8 | c.854G>A | p.Arg285Gln | 6 | NA | Hemizygous |
| Tetratricopeptide repeat domain-7A | TTC7A | 20,25 | c.122del | p.(Met41Serfs38) | 1 | Frameshift | Homozygous |
| Cernunnos XLF | NHEJ1 | 23 | c.530-1G>A | Intron 4 | 5 | Substitution | Homozygous |
| Interleukin-2 receptor alpha | IL2RA | 2 | c.418 T>C | aa.Y140H | 4 | NA | Homozygous |
NA, not available.