Patient P55 was found to have rare exonic variants in both NCF1 (c.269G>A; p.R90H; HGNC:7660) and NCF2 (c.812A>G; p.Lys271Arg; HGNC:7661), which are primarily linked to chronic granulomatous disease (CGD, OMIM 233700). Here, NCF1 is linked to chronic granulomatous disease.