Figure S1.

Gene variants from whole-exome DNA sequencing. (A) Medical chronological summary of patients. (B) Table of homozygous mutations upon ranking by severity using PolyP, Sift, and CADD scores. Table shows information of gene, mutation, allele frequency, severity prediction, genotypes, and immune system expression, phenotype, and function. After additional prioritization by MAF, gene expression pattern, mutation severity, and known biological functions, the novel homozygous mutation in GIMAP6 was confirmed. (C) Sanger sequencing showing the mutations of GIMAP6 in Pt 1 and family members. (D) CADD/MAF diagram indicating the variant in the index (red) and all homozygous missense (blue) and deleterious variants from the public databases GnomAD.