Three monogenic diseases, with features of both autoinflammation and autoimmunity, were described for the first time in 2014. As well as providing insights into the molecular basis of several rare immunological disorders, the discoveries have implications for their diagnosis and treatment.
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References
McGonagle, D. & McDermott, M. F. A proposed classification of the immunological diseases. PLoS Med. 3, e297 (2006).
Zhou, Q. et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N. Engl. J. Med. 370, 911–920 (2014).
Rice, G. I. et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46, 503–509 (2014).
Kuehn, H. S. et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 345, 1623–1627 (2014).
Kastner, D. L., Zhou, Q. & Aksentijevich, I. Mutant ADA2 in vasculopathies. N. Engl. J. Med. 371, 480–481 (2014).
Crow, Y. J. Type I interferonopathies: Mendelian type I interferon up-regulation. Curr. Opin. Immunol. 32, 7–12 (2015).
Romo-Tena, J. Gómez-Martín, D. & Alcocer-Varela, J. CTLA-4 and autoimmunity: new insights into the dual regulator of tolerance. Autoimmun. Rev. 12, 1171–1176 (2013).
Walker, L. S. TREG and CTLA-4: two intertwining pathways to immune tolerance. J. Autoimmun. 45, 49–57 (2013).
Rieux-Laucat, F. & Casanova, J.-L. Immunology: autoimmunity by haploinsufficiency. Science 345, 1560–1561 (2014).
Schuster I. S. et al. TRAIL+ NK cells control CD4+ T cell responses during chronic viral infection to limit autoimmunity. Immunity 41, 646–656 (2014).
Acknowledgements
The authors' work is supported by NIHR-LMBRU. The authors apologise to colleagues whose work could not be cited because of space constraints.
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Savic, S., McDermott, M. New monogenic diseases span the immunological disease continuum. Nat Rev Rheumatol 11, 67–68 (2015). https://doi.org/10.1038/nrrheum.2014.215
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DOI: https://doi.org/10.1038/nrrheum.2014.215
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