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Monogenic lupus: it's all new!

Patricia Costa-Reis1, Kathleen E Sullivan2

  • 1Pediatrics Department, Hospital de Santa Maria, Lisbon, Portugal; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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|November 4, 2017
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Summary
This summary is machine-generated.

Monogenic lupus, though rare, offers crucial insights into systemic lupus erythematosus pathogenesis. Studying these genetic disorders illuminates pathways involved in immune tolerance and cellular debris clearance.

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Monogenic lupus, while rare, provides significant insights into the pathogenesis of systemic lupus erythematosus (SLE).
  • Early identified forms involved inherited complement deficiencies, impacting immune tolerance and clearance of apoptotic bodies and immune complexes.
  • Recent discoveries have expanded the understanding of monogenic disorders presenting with lupus-like phenotypes.

Purpose of the Study:

  • To review and synthesize the current understanding of monogenic lupus.
  • To highlight the contribution of monogenic disorders to elucidating SLE pathogenesis.
  • To identify key genetic pathways implicated in lupus development.

Main Methods:

  • Literature review of monogenic disorders associated with lupus-like phenotypes.
  • Analysis of genetic defects affecting nucleic acid metabolism, interferon pathways, and B cell development.
  • Integration of findings to understand SLE pathogenesis.

Main Results:

  • Inherited complement deficiencies were among the first identified monogenic causes of lupus.
  • Newer discoveries implicate genes in nucleic acid repair/degradation (TREX1, DNASE1L3), type I interferon (IFN) signaling (SAMHD1, RNASEH2ABC, ADAR1, IFIH1, ISG15, ACP5, TMEM173), and B cell checkpoints (PRKCD, RAG2).
  • These genetic defects disrupt immune tolerance and cellular clearance mechanisms.

Conclusions:

  • Monogenic lupus studies are instrumental in unraveling SLE pathogenesis.
  • Defects in nucleic acid sensing, IFN pathways, and B cell regulation are critical in lupus development.
  • Understanding these monogenic disorders offers novel therapeutic targets for systemic lupus erythematosus.