Fig. 1From: Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case reportPatient presentation and NCF1 p.Arg90His genotyping in the proband and her family. a: Atrophic skin lesion on lower abdomen of patient homozygous for NCF1, p.Arg90His. b: Residual oxidase activity of neutrophils and NCF1 expression in patient and healthy control. Left: Residual oxidase activity of neutrophils was determined using dihydrorhodamine (DHR) oxidation by flow cytometry. Right: NCF1 expression in patient and healthy control. NCF1 expression in neutrophils is presented as mean fluorescence intensity. Both panels: Red histograms represent neutrophils treated with buffer under basal conditions; blue histograms represent neutrophils in response to PMA (400 ng/mL). c: Pedigree of the family with the recessively inherited homozygous pathogenic variant p.Arg90His in the NCF1 gene. d: Sanger sequencing validation in proband and family. Sanger sequencing confirmed the homozygous variant NCF1, c.269G > A, p.Arg90His in the patient. Her parents and two brothers are heterozygous for the same variantBack to article page