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CLINICAL GENETICS IN 2014 New monogenic diseases span the immunological disease continuum

Journal

NATURE REVIEWS RHEUMATOLOGY
Volume 11, Issue 2, Pages 67-68

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NATURE PUBLISHING GROUP
DOI: 10.1038/nrrheum.2014.215

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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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