Fig. (4).

Modular analyses of PAPA blood gene expression reveals over-expression of neutrophil and platelet-related genes. mRNA expression level differences in PBMCs between PAPA patients and age- and sex-matched healthy controls were obtained by statistical group comparison. We further performed modular analyses as described in [67, 68]. Briefly, genes are assigned a priori to particular functional units (i. e. modules) as derived from extensive analyses of expression in PBMCs. Statistical comparisons are then made between disease groups and healthy groups on a module-by-module basis, where the proportion of under- or over-expressed genes in the module is depicted in the cartoon by differences in color and intensity. This approach simplifies analysis and produces a distinct “fingerprint” of disease. A complete list of differentially expressed gene transcripts in PAPA syndrome individuals versus controls is available upon request.