A purine metabolic checkpoint that prevents autoimmunity and autoinflammation (Dendritic cell RNA Seq dataset)

Mutations resulting in loss of FAMIN (C13orf31) cause systemic juvenile idiopathic arthritis and very early onset inflammatory bowel disease, while a common I254V substitution increases susceptibility to leprosy and Crohn's disease. In this study, we compare mRNA transcriptional profiles of bone marrow-derived dendritic cells (DCs) from mice genetically engineered to express Faminp.254I (non-risk), Faminp.254V (risk variant) and Faminp.284R (mutant) at their endogenous loci. We also compare BMDCs from mice lacking FAMIN expression -/- (knockout, KO) with FAMIN+/+ (wild type, WT) mice. Overall design: BMDCs were cultured from Faminp.254I (n=5), Faminp.254V (n=6) and Faminp.284R (n=5) mice, and from mFAMIN+/+ (n=4) with mFAMIN-/- (n=4) mice, cDC1 subsets isolated and stimulated with LPS, and transcriptional profiles compared.