Figure 1.

IKAROS mutations and clinical features.

A. Schematic of the human IKAROS protein and the location of mutations. The numbers represent the amino acid location based on IKZF1 transcript variant 1 (NM_006060). Different molecular mechanisms of IKAROS mutations are shown in blue (haploinsufficiency, HI) and red (dominant negative, DN) color. Red circles indicate the number of families carrying the same mutation.

B. Age of onset of clinical manifestations in patients with IKAROS mutations. Horizontal bars represent median values.

C. Infectious agents among symptomatic cases of IKAROS-associated primary immunodeficiency by mechanism of action.