Table 3.
Number of patients screened | Number of STAT1 mutants | Number of patients with CMC | Enteropathy | Skin disease | Endocrinopathy | Autoimmune cytopenia | Recurrent infections other than CMC | |
---|---|---|---|---|---|---|---|---|
NIH | 5 | 3 | 5/5 | 3/5 | 2/5 | 5/5 | 2/5 | 5/5 |
Seattle | 35 | 2** | 14/35 | 35/35 | 26/35 | 21/35 | 12/35 | 15/35 |
Florence | 38 | 0 | 4/38 | 38/38 | 20/38 | 20/38 | 13/38 | 19/38 |
2 out of 3 NIH patients were also previously screened for FOXP3 mutation by the Seattle Group and they are not included in their cohort of 35.