Table 1.
Cell lines and patient characteristics
| Patient code | Gene | Mutation (allele 1; 2) | Immunological phenotype | Extraimmune manifestations | Reference |
| F04415 | DCLRE1C | del exon 1–3; del exon 1–3 | T−B−NK+ SCID | None | |
| F96224 | DCLRE1C | G126D; L70del | TloBlo CID | None | (42) |
| ID177 | PRKDC | L3062R; L3062R | T−B−NK+ SCID | None | (12) |
| NM720 | PRKDC | A3574V; del exon 16 | T−B−NK+ SCID | Severe microcephaly, sensorineural deafness, visual impairment | (13) |
| HYGM022 | LIG4 | R814X; K449Q | Blo | Microcephaly | |
| F07614 | LIG4 | A3V, T9I, R278H; A3V, T9I, R278H | TloB− CID, hyper-IgM | Microcephaly, mild developmental delay | (26) |
| 411BR | LIG4 | A3V, T9I, R278H; A3V, T9I, R278H | T−BloNK+ CID | Microcephaly, developmental delay, non-EBV lymphoma | (8, 9) |
| SCID072 | LIG4 | Q558P; K424fs | TloBlo CID, pancytopenia | Microcephaly, IUGR, developmental delay |
IUGR, intrauterine growth retardation.