Table 1.
Summary of variants in 20 autoimmune FXIII deficiency cases.
Fig 1.
Data analysis and selecting candidate alleles above the criteria from genetic variants identified in whole exome sequencing of 20 autoimmune FXIII deficiency cases.
The analytical dataset was obtained by merging all the annotated variants called in the 20 autoimmune FXIII deficiency cases into a single dataset. The candidate alleles were subsequently narrowed down by three selection methods.
Table 2.
F13A1, F13B, CTLA4, HLA-DRB1, and HLA-DQB1 variants in autoimmune FXIII deficiency cases.
Fig 2.
FXIII inhibitory titers and anti-FXIII autoantibody levels in various variants.
A, FXIII inhibitory titers (Bethesda unit; BU) in reference allele (C/C) and heterozygous allele (C/G) at chromosome 6; 33048457 in HLA-DPB1 (rs1126504). B, Anti-FXIII autoantibody levels measured using ICT (arbitrary unit; AU) as described in “Materials and Methods” in reference allele (T/T), heterozygous allele (T/C) and homozygous allele (C/C) at chromosome 6; 32363816 in BTNL2 (rs2076530).
Table 3.
FXIII inhibitors in each genotypes of MHC class I and II molecules and their associated genes.
Table 4.
Anti-FXIII-A autoantibodies measured by ELISA in each genotypes of MHC class I and II molecules and their associated genes.
Table 5.
Anti-FXIII-A autoantibodies measured by ICT in each genotypes of MHC class I and II molecules and their associated genes.