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Molecular findings in T−/+B+NK+SCID.
| Pt No. | Defective gene | Nucleotide change | Protein change | Mutation type | Allele | Carrier Status | Reference | Method | |
|---|---|---|---|---|---|---|---|---|---|
| Mother | Father | ||||||||
| P26 | RAG1 | c.2849delT | p. I950Mfster28 | Deletion | Compound heterozygous | Carrier for c.2849delT | Carrier for c.1421G>A | This study | NGS |
| c.1421G>A | p. R474H | Missense | (16) | ||||||
| P9 | IL2RG | c.749 del C | T250Ifster23 | Frameshift | Hemizygous | NA | NA | This study | Sanger |
RAG1, recombination activating gene1; IL2RG, Interleukin 2 receptor gamma chain.
