Ward A. Ortmann

TL;DR: Global gene expression profiling of peripheral blood mononuclear cells is used to identify distinct patterns of gene expression that distinguish most SLE patients from healthy controls, and identify a subgroup of patients who may benefit from therapies targeting the IFN pathway.

TL;DR: Genotyped 525 independent North American white individuals with systemic lupus erythematosus and compared the results with data generated from 1,961 white control individuals provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

TL;DR: A commonIRF5 haplotype driving elevated expression of multiple unique isoforms of IRF5 is an important genetic risk factor for SLE, establishing a causal role for type I IFN pathway genes in human autoimmunity.

TL;DR: A recently described functional single-nucleotide polymorphism in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis; these findings suggest a common underlying etiologic pathway for some, but not all, autoimmune disorders.

TL;DR: Evidence is found for three functional alleles of IRF5: the previously described exon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, glutamic acid-, serine- and threonine-rich domain region, and a variant in a conserved polyA+ signal sequence that alters the length of the 3′ UTR and stability of IRf5 mRNAs.