Clinical photographs, population genetics, and cellular analyses in patients with MMD2 mutations. (A) Computed tomography images of age-matched healthy subjects, the 45-year-old patient A-III-2, the 44-year-old patient A-III-3, and the 40-year-old patient A-III-4. (B) Clinical photographs of family A. The normal gingival line is indicated by a green line. (C) Clinical photographs of the 16-year-old B-III-1. The gums are reddened. (D) Filtering and numbers of called variants. (E and F) Linkage analysis of the studied family A. Arrows indicate the position of the MMD2 gene. (G) CADD score (y axis) versus allele frequency (x axis) for all the variants of MMD2 found in gnomeAD. (H) Temporal changes in white blood cell count and temporal changes in neutrophils. (I) Superoxide production ability as determined using DHR123 antibody. Diagnosis of chronic granulomatosis using 7D5 antibody. (J) Phagocytic ability. (K) IL-1β production in neutrophils and monocytes of a patient (A-III-2, A-III-4, and A-IV-1). (L) FACS histogram showing superoxide production in neutrophils of a patient (A-III-2) and healthy subjects with or without PMA, zymosan, S. aureus (SA), and E. coli. Activity was assessed using DHR. DHR, dihydrorhodamine.