Clinical genetics in 2014: New monogenic diseases span the immunological disease continuum

Sinisa Savic; Michael F McDermott

doi:10.1038/nrrheum.2014.215

Clinical genetics in 2014: New monogenic diseases span the immunological disease continuum

Nat Rev Rheumatol. 2015 Feb;11(2):67-8. doi: 10.1038/nrrheum.2014.215. Epub 2014 Dec 23.

Authors

Sinisa Savic¹, Michael F McDermott¹

Affiliation

¹ National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU), Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James University, Beckett Street, Leeds LS9 7TF, UK.

PMID: 25536483
DOI: 10.1038/nrrheum.2014.215

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adaptive Immunity
Adenosine Deaminase / genetics
Autoimmune Diseases / genetics
DEAD-box RNA Helicases / genetics
Haploinsufficiency
Humans
Immune System Diseases / genetics*
Intercellular Signaling Peptides and Proteins / genetics
Interferon-Induced Helicase, IFIH1
Polyarteritis Nodosa / genetics

Substances

Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase
IFIH1 protein, human
DEAD-box RNA Helicases
Interferon-Induced Helicase, IFIH1

Supplementary concepts

Systemic necrotizing angiitis