Table 4.
Case | MSNmutation | Bacterial infections | Varicella zoster | Eczema | Molluscum contagiosum | Autoimmunity | Persistent lymphopenia | Fluctuating neutropenia | IgG therapy | Improvement with G-CSF | Alive and well |
---|---|---|---|---|---|---|---|---|---|---|---|
P1 | R171W | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | No G-CSF | Yes |
P2 | R171W | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes |
P3 | R171W | Yes | Yes | No | No | TTP | Yes | Yes | Yes | No GCS-F | Yes |
P4 | R171W | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes |
P5 | R171W | Yes | No | Yes | No | No | Yes | Yes | Yes | No G-CSF | Yes |
P6 | R171W | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | No G-CSF | Yes |
P7 | R553* | Yes | No | No | No | No | Yes | Yes | Yes | No G-CSF | Yes |
Proband | R171W | Yes | Yes | No | No | ITP | Yes | Yes | Yes | Yes | Yes |
Red font highlights similarities between case P3 and proband.