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. Author manuscript; available in PMC: 2016 Apr 14.
Published in final edited form as: J Allergy Clin Immunol. 2015 Feb 19;135(6):1558–68.e2. doi: 10.1016/j.jaci.2014.12.1930

Figure 1.

Figure 1

A. Pedigrees of five kindreds with invasive fungal infection and CARD9 mutations

Each kindred is designated by a letter (A–E), each generation is designated by a Roman numeral (I–III) and each individual by an Arabic numeral (1–4). Patients with invasive fungal infections are indicated in black. The probands are indicated by arrows. The genotype of CARD9 is indicated below each individual. E? indicates that no DNA was available.

B. Schematic diagram of the human CARD9 (isoform 1) gene and its mutations

The human CARD9 isoform 1 gene is shown, with its known pathogenic mutations. Coding exons are numbered with roman numerals. Regions corresponding to the CARD domain and coiled-coil (CC) domain are indicated. Mutations associated with invasive fungal (Candida spp., Exophiala spp.) infections are indicated in red. Mutations associated with invasive fungal (Candida spp.) infections or deep dermatophytosis are underlined. Mutations previously reported in patients with deep dermatophytosis are indicated in blue or underlined, and mutations associated with subcutaneous phaeohyphomycosis are indicated in black.