Geographic distribution and microsatellite marker analyses of noncoding UNC13D mutations. (A) Frequency of distinct UNC13D mutations in families from different European countries. All patients with UNC13D studied from Sweden, Denmark, Norway, Finland, Croatia, and Slovenia are included. Pie charts indicate the relative frequency of the intron 1 mutation (blue), the inversion (red), or other mutations (gray). Numbers represent alleles. (B) Haplotype analyses using microsatellite markers of patients with the c.118-308C > T mutation. (C) Haplotype analyses using microsatellite markers of patients with the inversion. (D) Relative frequency of mutated alleles in infants that fulfilled the diagnostic criteria for HLH, including defective NK cell cytotoxicity in Sweden between December 2005 and January 2011. The pie chart includes 13 patients and 26 mutated alleles.