Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Nature Genetics

Volumn 46, Issue 8, 2014, Pages 812-814

  Flanagan, Sarah E ^a   Haapaniemi, Emma ^b   Russell, Mark A ^a   Caswell, Richard ^a   Allen, Hana Lango ^a   De Franco, Elisa ^a   Mcdonald, Timothy J ^a   Rajala, Hanna ^b,c   Ramelius, Anita ^d,e   Barton, John ^f   Heiskanen, Kaarina ^b,g   Heiskanen Kosma, Tarja ^h   Kajosaari, Merja ^g   Murphy, Nuala P ⁱ   Milenkovic, Tatjana ^j   Seppänen, Mikko ^c   Lernmark, Åke ^d,e   Mustjoki, Satu ^b,c   Otonkoski, Timo ^b,g   Kere, Juha ^b,k   Morgan, Noel G ^a   Ellard, Sian ^a   Hattersley, Andrew T ^a   more..

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d LUND UNIVERSITY   (Sweden)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^g UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^h KUOPIO UNIVERSITY HOSPITAL   (Finland)

ⁱ CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^j Mother and Child Health Care Institute of Serbia 'dr Vukan upi '   (Serbia)

^k KAROLINSKA INSTITUTE   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GAMMA INTERFERON; INSULIN; STAT3 PROTEIN; TUMOR NECROSIS FACTOR ALPHA; STAT3 PROTEIN, HUMAN;

ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CELIAC DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOKINE PRODUCTION; EXOME; GENE ACTIVATION; GENE SEQUENCE; GERMLINE MUTATION; HEK293 CELL LINE; HUMAN; HUMAN CELL; HYPER IGE SYNDROME; HYPOTHYROIDISM; IMMUNOPATHOGENESIS; INSULIN DEPENDENT DIABETES MELLITUS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SOMATIC MUTATION; WILD TYPE; AMINO ACID SEQUENCE; CELL LINE; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; AUTOIMMUNE DISEASES; CELL LINE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEK293 CELLS; HUMANS; JOB SYNDROME; MOLECULAR SEQUENCE DATA; SEQUENCE HOMOLOGY, AMINO ACID; STAT3 TRANSCRIPTION FACTOR;

EID: 84905576130     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3040     Document Type: Article

References (24)

1. Barrett, J.C. et al. Nat. Genet. 41, 703-707 (2009
2. Barrett, J.C. et al. Nat. Genet. 40, 955-962 (2008
3. Stahl, E.A. et al. Nat. Genet. 42, 508-514 (2010
4. Bennett, C.L. et al. Nat. Genet. 27, 20-21 (2001
5. Finnish-German APECED Consortium. Nat. Genet. 17, 399-403 (1997
6. Sharfe, N. et al. Proc. Natl. Acad. Sci. USA 94, 3168-3171 (1997
7. Rubio-Cabezas, O. et al. Diabetes Care 32, 111-116 (2009
8. Koskela, H.L. et al. N. Engl. J. Med. 366, 1905-1913 (2012
9. Yang, X.O. et al. J. Biol. Chem. 282, 9358-9363 (2007
10. Harris, T.J. et al. J. Immunol. 179, 4313-4317 (2007
11. Shao, S. et al. Cell. Immunol. 280, 16-21 (2012
12. Ma, C.S. et al. J. Exp. Med. 205, 1551-1557 (2008
13. Minegishi, Y. et al. Nature 448, 1058-1062 (2007
14. Pilati, C. et al. J. Exp. Med. 208, 1359-1366 (2011
15. Tsoi, L.C. et al. Nat. Genet. 44, 1341-1348 (2012
16. Jakkula, E. et al. Am. J. Hum. Genet. 86, 285-291 (2010
17. Fung, E.Y. et al. Genes Immun. 10, 188-191 (2009
18. Seddighzadeh, M. et al. J. Rheumatol. 39, 1509-1516 (2012
19. Levy, D.E. & Darnell, J.E. Jr. Nat. Rev. Mol. Cell Biol. 3, 651-662 (2002
20. Holland, S.M. et al. N. Engl. J. Med. 357, 1608-1619 (2007
21. Heimall, J. et al. Clin. Immunol. 139, 75-84 (2011
22. Lango Allen, H. et al. Nat. Genet. 44, 20-22 (2012
23. Ellard, S. et al. Diabetologia 56, 1958-1963 (2013
24. Russell, M.A. et al. Islets 5, 95-105 (2013