title: Clinical genetics in 2014: New monogenic diseases span the immunological disease continuum.
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.
authors.affiliation: 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.
authors.forename: Sinisa
authors.initials: S
authors.lastname: Savic
authors.affiliation: 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.
authors.forename: Michael F
authors.initials: MF
authors.lastname: McDermott
mesh_terms: D056704:Adaptive Immunity; D000243:Adenosine Deaminase / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics; D053487:DEAD-box RNA Helicases / Q000235:genetics; D057895:Haploinsufficiency; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics*; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072640:Interferon-Induced Helicase, IFIH1; D010488:Polyarteritis Nodosa / Q000235:genetics
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase; C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1