Table 2.
Immune phenotype.
| PAT | NK cell degran ex vivo |
NK cell degran +PHA/IL-2 |
NK cell cytotox. | T cell degran +PHA/IL-2 |
T cell cytotox. | Mutation | Degran | Cytotox | Granule polarization |
|---|---|---|---|---|---|---|---|---|---|
| III | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| IV | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| V | 9.0 [5.29-11.8] |
41.64 | normal | reduced | normal | RAB27A +/m | normal | normal | yes |
| VI | 5.1 [2.9-8,2] |
17.04 [8.5-25.6] |
normal | absent | normal |
RAB27A
m/m
ACAD9 m/m |
absent-reduced | ND | ND |
| VII | 13.7 [8.4-18.4] |
57.3 | normal | reduced | normal | RAB27A +/m | ND | ND | ND |
| VIII | 8.3 [4.6-10.4] |
40.8 | reduced | absent | absent |
RAB27A
m/m
FBP1 m/m ACAD9 m/m |
absent | absent | no |
| IX | 11.2 [7.8-18.1] |
44.6 | reduced | absent | reduced |
RAB27A
m/m
FBP1 m/m ACAD9 +/m |
absent | reduced | yes |
ND, not done.