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

Nature Reviews Rheumatology

Volumn 11, Issue 2, 2015, Pages 67-68

  Savic, Sinisa ^a   McDermott, Michael F ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; UNCLASSIFIED DRUG; CECR1 PROTEIN, HUMAN; DEAD BOX PROTEIN; IFIH1 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADAPTIVE IMMUNITY; AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; CELL DIFFERENTIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAIN OF FUNCTION MUTATION; GENE; HAPLOINSUFFICIENCY; HUMAN; IFIH1 GENE; IMMUNOPATHOLOGY; INNATE IMMUNITY; MONOGENIC DISORDER; NECROTIZING ARTERITIS; PATHOGENESIS; REVIEW; AUTOIMMUNE DISEASE; GENETICS; POLYARTERITIS NODOSA;

ADAPTIVE IMMUNITY; ADENOSINE DEAMINASE; AUTOIMMUNE DISEASES; DEAD-BOX RNA HELICASES; HAPLOINSUFFICIENCY; HUMANS; IMMUNE SYSTEM DISEASES; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; POLYARTERITIS NODOSA;

EID: 84961380859     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2014.215     Document Type: Review

References (10)

1. McGonagle, D. & McDermott, M. F. A proposed classification of the immunological diseases. PLoS Med. 3, e297 (2006).
2. Zhou, Q. et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N. Engl. J. Med. 370, 911-920 (2014).
3. 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).
4. Kuehn, H. S. et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 345, 1623-1627 (2014).
5. Kastner, D. L., Zhou, Q. & Aksentijevich, I. Mutant ADA2 in vasculopathies. N. Engl. J. Med. 371, 480-481 (2014).
6. Crow, Y. J. Type I interferonopathies: Mendelian type I interferon up-regulation. Curr. Opin. Immunol. 32, 7-12 (2015).
7. 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).
8. REG and CTLA-4: two intertwining pathways to immune tolerance. J. Autoimmun. 45, 49-57 (2013).
9. Rieux-Laucat, F. & Casanova, J.-L. Immunology: autoimmunity by haploinsufficiency. Science 345, 1560-1561 (2014).
10. + T cell responses during chronic viral infection to limit autoimmunity. Immunity 41, 646-656 (2014).