From: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
Group | Case # | Sex | Age | CSF1R Mutation | Histopathology | Expression |
---|---|---|---|---|---|---|
HDLS | 1 | F | 46 | c.1897G > A, p.Glu633Lys | + | + |
HDLS | 2 | M | 55 | c.2320-2A > G, p.Cys774_Asn814del | + | + |
HDLS | 5 | F | 58 | c.2633C > A p.Pro878His | + | + |
HDLS | 6 | M | 49 | c.2297 T > C, p.Met766Thr | + | + |
HDLS | 9 | F | 52 | c.2381 T > C, p.Ile794Thr | + | + |
HDLS | 11 | M | 51 | c.2330G > A, p.Arg777Gln | + | + |
HDLS | 13 | M | 71 | c.1897G > A, p.Glu633Lys | + | – |
HDLS | 14 | F | 49 | c.2603 T > C, p.Lys868Pro | + | – |
HDLS | 15 | F | 55 | c.2603 T > C, p.Lys868Pro | + | – |
HDLS | 16 | M | 62 | c.2381 T > C, p.Ile794Thr | + | – |
HDLS | 17 | F | NA | c.2297 T > C, p.Met766Thr | + | – |
Normal | 3 | M | 69 |  | – | + |
Normal | 4 | M | 63 |  | – | + |
Normal | 7 | F | 61 |  | – | + |
Normal | 8 | F | 60 | Â | + | + |
Normal | 10 | M | 53 |  | – | + |
Normal | 12 | F | 56 |  | – | + |
Normal | 18 | M | 74 |  | + | – |
Normal | 19 | M | 51 |  | + | – |
Normal | 20 | F | 65 |  | + | – |
Normal | 21 | M | 82 |  | + | – |
Normal | 22 | F | 60 |  | + | – |
Normal | 23 | M | 65 |  | + | – |
Normal | 24 | M | 50 |  | + | – |
Normal | 25 | M | 50 |  | + | – |
Normal | 26 | F | 53 |  | + | – |
Normal | 27 | M | 63 |  | + | – |