Monogenic lupus: it's all new!

Monogenic lupus: it's all new! Curr Opin Immunol. 2017 Oct 27;49:87-95 Authors: Costa-Reis P, Sullivan KE Abstract Monogenic lupus is rare, but its study has contributed immensely to a better understanding of the pathogenesis of systemic lupus erythematosus. The first forms identified were inherited complement deficiencies, which predisposed to lupus due to impaired tolerance, and aberrant clearance of apoptotic bodies and immune complexes. In recent years, several new monogenic disorders with a lupus-like phenotype have been described. These include forms that affect nucleic acid repair, degradation and sensing (TREX1, DNASE1L3), the type I interferon (IFN) pathway (SAMHD1, RNASEH2ABC, ADAR1, IFIH1, ISG15, ACP5, TMEM173) and B cell development checkpoints (PRKCD; RAG2). Pathways informed by these newly described disorders have continued to improve our understanding of systemic lupus erythematosus. PMID: 29100097 [PubMed - as supplied by publisher]
Source: Current Opinion in Immunology - Category: Allergy & Immunology Authors: Tags: Curr Opin Immunol Source Type: research