Pathophysiological STAT5B mutations. Schematic of the human STAT5B protein (see Figure 2A for definition of the protein modules). Amino acid numbering is based on recent crystal structure of human STAT5B (47). Germline, inactivating, mutations are indicated below and somatic, activating, mutations above the schematic of STAT5B structure. Black arrows, homozygous; red arrow, dominant-negative; orange arrow, dominant-negative associated with immunity only; green arrows, gain-of-function mutations.