Table 5.
Molecular findings in T−/+B−NK−SCID.
| Pt No. | Defective gene | Nucleotide change | Protein change | Mutation type | Allele | Carrier status | References | Method | |
|---|---|---|---|---|---|---|---|---|---|
| Mother | Father | ||||||||
| P1 | PNP | c.199C>T | p.67R>X | Nonsense | Homozygous | Carrier | Carrier | This study | Sanger |
| P4 | ADA | c.42 T>C | p. L14P | Missense | Homozygous | Carrier | Carrier | This study | Sanger |
| P11 | ADA | c.523 C>T | p.Q175 X | Nonsense | Homozygous | Carrier | Carrier | This study | Sanger |
| c.716 G>A | p. G239D | Missense | Homozygous | Carrier | Carrier | (17) | Sanger | ||
| P13 | AK2 | c.276 C>A | p.C92X | Nonsense | Homozygous | ND | ND | This study | Sanger |
| P14 | ADA | c.3632A>G. | 3′ splice variant | Splice site | Compound Heterozygous | Carrier | Carrier | This study | Sanger |
| c.613_615del | p. Val205del | Deletion | This study | ||||||
| P22 | ADA | c.523 C>T c.716 G>A | p.Q175 X | Missense | Homozygous | Carrier | Carrier | This study, | Sanger |
| p. G239D | (17) | ||||||||
| P53 | ADA | c.716 G>A | p. G239D | Missense | Homozygous | Carrier | Carrier | (17) | Sanger |
| P48 | RAG1 | c.2146C>T | p. R716W | Missense | Homozygous | Carrier | Carrier | (16) | NGS |
| P17 | IL2RG | c.331delA | p. I111SfsTer36 | Frameshift | Hemizygous | Carrier | NA | This study | Sanger |
ADA, Adenosine Deaminase; PNP, Purine nucleoside phosphorylase; AK2, adenylate kinase 2.