Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy [Bulk]. Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy [Bulk]

We isolated chondrocytes from an NFAT1 deficient patients osteochondromas surgically removed from the promixal tibia. The cells were either infected with empty vector (labeled "patient") or WT-NFATC2 (labeled "rescue"). We then conducted differential expression, and gene-set enrichment analysis and determined that inflammatory and cell proliferation signals were higher in "patient" chondrocytes Overall design: Transcriptome profiling of Empty Vector transduced and WT-NFATC2 transduced patient chondrocytes in technical triplicate, with or without stimulations (4hrs 20ng/mL IL-1b, 50ng/mL PMA + 1uM Ionomycin)