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Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
Monique Stoffels1, Daniel L Kastner1
1Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892;
Annual Review of Genomics and Human Genetics
|July 1, 2016
Summary
Recent advances in autoinflammatory diseases reveal new genetic causes like DADA2 and SAVI, alongside insights into innate immunity pathways and familial Mediterranean fever. These findings deepen our understanding of these rare genetic inflammatory disorders.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Autoinflammatory diseases are inborn disorders of innate immunity, marked by recurrent systemic inflammation.
- The field has evolved significantly since 1999 with the identification of genes linked to periodic fever syndromes.
Purpose of the Study:
- To review key developments in autoinflammatory diseases over the past two years.
- To highlight newly described monogenic autoinflammatory diseases and updated concepts in known conditions.
Main Methods:
- Literature review focusing on recent advancements in the field of autoinflammatory diseases.
- Discussion of newly identified genetic disorders and emerging pathomechanisms.
Main Results:
- Description of three newly identified monogenic autoinflammatory diseases: DADA2, MAS, and SAVI.
- Exploration of somatic mosaicism, digenic inheritance, and new insights into familial Mediterranean fever pathways.
- Introduction of haploinsufficiency of A20 (HA20) as a new monogenic autoinflammatory disease.
Conclusions:
- Recent advances have significantly illuminated the pathophysiology of several autoinflammatory diseases.
- New pathways involved in innate immunity have been elucidated, advancing the understanding of these conditions.
