Table 3.
Other PIDs in which somatic reversion has been detected.
| Disease | Type of reversion | Revertant cell | Reference |
|---|---|---|---|
| ADA deficiency | Back mutation | CD4+T, CD8+T, B, NK | (6, 54–58) |
| Second-site mutation | |||
| RAG1 deficiency | Back mutation | CD4+T, CD8+T | (14, 15) |
| Second-site mutation | |||
| CD3ζ deficiency | Back mutation | CD4+T, CD8+T, NK | (16–19) |
| Second-site mutation | |||
| XL-EDA-ID | Loss of the duplicated region | CD4+T, CD8+T, B, NK | (69–71) |
| Back mutation | |||
| LAD-1 | Back mutation | CD8+T, NK | (74–76) |
| Site-specific substitution | |||
| Second-site mutation | |||
| XLP-1 | Back mutation | CD4+T, CD8+T, NK | (78, 79) |
| Site-specific substitution | |||
| DOCK8 deficiency | Back mutation | CD4+T, CD8+T, B, NK | (81–85) |
| Second-site mutation | |||
| CN-LOH | |||
| Intragenic recombination | |||
| Loss of the duplication/deletion mutation | |||
| JAK3 deficiency | Back mutation | CD4+T, CD8+T | (64) |
| DNA ligase IV deficiency | Intragenic recombination | T, NK, granulocytes, oral mucosa | (65) |
| CARD11 deficiency | Second-site mutation | CD4+T, CD8+T | (86) |
| ARPC1B deficiency | Back mutation | CD8+T, NK | (89) |
| MYSM1 deficiency | Back mutation | T, B, NK, monocytes | (94) |
| WHIM syndrome | Chromothripsis | myeloid and erythroid lineage | (96) |
| GATA2 deficiency | Site-specific substitution | T, B, NK, monocytes | (98) |
| SAMD9/SAMD9L syndrome | Monosomy 7 | BM and PB cells (including myeloid and lymphoid lineage) | (102–110) |
| Deletion of 7q | |||
| Second-site mutation | |||
| CN-LOH |
PID, primary immunodeficiency disease; NK, natural killer; CN-LOH, copy-neutral loss of heterozygosity; BM, bone marrow; PB, peripheral blood.