Figure 2

CSF2RA mutations, resulting GM-CSF receptor α chain abnormalities, and observed impact on receptor function and clinical course. Mutations detected in the subjects of the novel cohort (A-I) and in previously published cases (J-Q) are listed. The expected protein products are depicted with segments indicating different functional domains. Resulting deficits in STAT5 phosphorylation as determined by FACS or Western blot analysis are also provided. In addition, the clinical course is described as the initial presenting phenotype followed by the last documented condition. * [13], ** [14], *** [10], † [12], ‡ [11], § [16].