Table 1.
Summary of specific PIDs reported in association with PML.
| Disorder predisposing to PML | Gene | Number PML cases | Reference |
|---|---|---|---|
| Wiskott–Aldrich Syndrome | WAS, WIPF11 | 5 | (6–10) |
| Severe combined immunodeficiency syndrome | Various | 2 | (11, 12) |
| X-linked hyper-IgM Syndrome | CD40LG | 3 | (13–15) |
| Hyper IgE Syndrome | DOCK8, STAT3, TYK2, STK3 | 2 | (16, 17) |
| ICF syndrome | DNMT3B | 1 | (18) |
| Adenosine deaminase deficiency | ADA | 1 | (19) |
| Idiopathic CD4 deficiency | RAG1, MST1, LCK, ITK | 1 | (20) |
| X-linked agammaglobulinemia | BTK | 1 | (21) |
| Purine nucleoside phosphorylase deficiency | PNP | 1 | (22) |
| STAT1 gain of function | STAT1 | 1 | (23) |
Note that references refer to PML case reports but genes listed refer to known causes of the syndrome, even if some specific genes have not yet been implicated in PML per se.