Table 7.
Molecular findings in CID.
| Pt No. | Defective gene | Nucleotide change | Protein change | Mutation type | Allele | Carrier status | References | Method | |
|---|---|---|---|---|---|---|---|---|---|
| Mother | Father | ||||||||
| P3 | RFXAP | c.460_461insC | p. K155QfsTer21 | Frameshift | Homozygous | Carrier | Carrier | (20) | NGS |
| P6 | RFXAP | c.460_461insC | p. K155QfsTer21 | Frameshift | Homozygous | Carrier | Carrier | (20) | NGS |
| P20 | RFX5 | c.1154delT | L385YfsTer33 | Frameshift | Homozygous | Carrier | Carrier | (20) | NGS |
| P21 | RFXAP | c.709-1G>T | Intron 2 | Splice site | Homozygous | Carrier | Carrier | (20) | NGS |
| P33 | CIITA | c.2436C>A | p. C812X | Nonsense | Homozygous | ND | ND | (20) | NGS |
| P49 | RFXANK | c.378_387del | p. P127GfsTer74 | Frameshift | Homozygous | ND | ND | (20) | NGS |
| P5 | ZAP70 | c.183 T>A | p. RIle61N | Missense | Homozygous | Carrier | Carrier | (21) | Sanger |
| P50 | ZAP70 | c.847C>T | p. R283X | Nonsense | Homozygous | Carrier | Carrier | This study | NGS |
RFXAP, Regulatory Factor X Associated Protein; RFX5, Regulatory factor 5; RFXANK, Regulatory Factor X Associated Ankyrin Containing Protein); CIITA, Class II Major Histocompatibility Complex Transactivator; ZAP70, Zeta-chain-associated protein kinase 70.