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. 2018 Apr 6;218(3):485–489. doi: 10.1093/infdis/jiy198

Figure 2.

Figure 2.

Recessive CARD9 mutation in a child with Prototheca zopfii colitis. A, The affected proband and unaffected subjects are shown with black and white symbols, respectively. Consanguineous union is shown with a double line. CARD9 alleles are denoted wild-type or mutant (p.V261fs). B, Schematic representation of human CARD9 protein (isoform 1) with CARD domain depicted in orange and coiled coil domain shown in red. Proband’s mutation (p.V261fs) is highlighted in bold among other previously reported pathogenic mutations [2–11]. C, Sanger sequencing chromatograms of the proband, her unaffected parents, and 5 siblings. The CARD9 p.V261fs mutation is homozygous in the proband, heterozygous in the unaffected parents and 4 siblings, and wild-type in sibling 4. Abbreviations: MUT, mutant (p.V261fs); S, sibling; WT, wild-type.