A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Rheumatology (United Kingdom)

Volumn 53, Issue 3, 2014, Pages 448-458

  Abe, Junya ^a   Nakamura, Kazuyuki ^b   Nishikomori, Ryuta ^a   Kato, Mitsuhiro ^b   Mitsuiki, Noriko ^c,d   Izawa, Kazushi ^a   Awaya, Tomonari ^a   Kawai, Tomoki ^a   Yasumi, Takahiro ^a   Toyoshima, Itaru ^e   Hasegawa, Kazuko ^f   Ohshima, Yusei ^g   Hiragi, Toru ^h   Sasahara, Yoji ⁱ   Suzuki, Yasuhiro ^j   Kikuchi, Masahiro ^k   Osaka, Hitoshi ^l   Ohya, Takashi ^m   Ninomiya, Shinya ⁿ   Fujikawa, Satoshi ^o   Akasaka, Manami ^p   Iwata, Naomi ^q   Kawakita, Akiko ^g   Funatsuka, Makoto ^r   Shintaku, Haruo ^s   Ohara, Osamu ^c,t   Ichinose, Hiroshi ^u   Heike, Toshio ^a   more..

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^e National Hospital Organization Akita National Hospital Yurihonjo   (Japan)

^f SAGAMIHARA NATIONAL HOSPITAL   (Japan)

^g UNIVERSITY OF FUKUI   (Japan)

^h Department of Pediatrics   (Japan)

ⁱ TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^j RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^k Hitachi   (Japan)

^l KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^m KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁿ Nakatsu Municipal Hospital   (Japan)

^o Fujikawa Pediatrics Clinic   (Japan)

^p IWATE MEDICAL UNIVERSITY   (Japan)

^q AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^r TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^s OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^t RIKEN Center for Integrative Medical Sciences   (Japan)

^u TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

more..

Author keywords

Aicardi Gouti res syndrome; Autoimmunity; Chilblain; Dominant type; Mosaicism; SAMHD1; TREX1

Indexed keywords

AICARDI-GOUTIÈRES SYNDROME; AUTOIMMUNITY; CHILBLAIN; DOMINANT-TYPE; MOSAICISM; SAMHD1; TREX1;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOIMMUNE DISEASES; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILBLAINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXODEOXYRIBONUCLEASES; FEMALE; GENOTYPE; HEALTH SURVEYS; HUMANS; JAPAN; MALE; MONOMERIC GTP-BINDING PROTEINS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; PHOSPHOPROTEINS; QUESTIONNAIRES; YOUNG ADULT;

EID: 84894341342     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/ket372     Document Type: Article

References (42)

1. Chahwan C, Chahwan R. Aicardi-Goutieres syndrome: from patients to genes and beyond. Clin Genet 2012;81:413-20.
2. Ramantani G, Kohlhase J, Hertzberg C et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010;62:1469-77.
3. Rice G, Patrick T, Parmar R et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007;81:713-25.
4. Orcesi S, La Piana R, Fazzi E. Aicardi-Goutieres syndrome. Br Med Bull 2009;89:183-201.
5. Blau N, Bonafé L, Krägeloh-Mann I et al. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype. Neurology 2003;61:642-7.
6. Crow YJ, Hayward BE, Parmar R et al. Mutations in the gene encoding the 30-50 DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006;38:917-20.
7. Crow YJ, Leitch A, Hayward BE et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 2006;38:910-6.
8. Rice GI, Bond J, Asipu A et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009;41:829-32.
9. Rice GI, Kasher PR, Forte GM et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet 2012;44:1243-8.
10. Rice G, Newman WG, Dean J et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 2007;80:811-5.
11. Haaxma CA, Crow YJ, van Steensel MA et al. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. Am J Med Genet A 2010;152A:2612-7.
12. Tüngler V, Silver RM, Walkenhorst H et al. Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. Br J Dermatol 2012;167:212-4.
13. Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci 2011;1238:91-8.
14. Obermoser G, Pascual V. The interferon-alpha signature of systemic lupus erythematosus. Lupus 2010;19:1012-9.
15. Lee-Kirsch MA, Gong M, Chowdhury D et al. Mutations in the gene encoding the 30-50 DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007;39:1065-7.
16. Cheng MH, Anderson MS. Monogenic autoimmunity. Annu Rev Immunol 2012;30:393-427.
17. Ramantani G, Häusler M, Niggemann P et al. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. J Child Neurol 2011;26:1425-8.
18. Lee-Kirsch MA, Gong M, Schulz H et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet 2006;79:731-7.
19. Abe J, Izawa K, Nishikomori R et al. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. Rheumatology 2013;52:406-8.
20. Shintaku H, Asada M, Sawada Y. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain Dev 2000;22(Suppl 1):S118-21.
21. Nishikomori R, Akutagawa H, Maruyama K et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 2004;103:4565-72.
22. Izawa K, Hijikata A, Tanaka N et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res 2012;19:143-52.
23. Tanaka N, Izawa K, Saito MK et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an international multicenter collaborative study. Arthritis Rheum 2011;63:3625-32.
24. Orebaugh CD, Fye JM, Harvey S et al. The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. J Biol Chem 2011;286:40246-54.
25. Brucet M, Querol-Audí J, Serra M et al. Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW Domains. J Biol Chem 2007;282:14547-57.
26. Brucet M, Querol-Audí J, Bertlik K et al. Structural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleases. Protein Sci 2008;17:2059-69.
27. Bailey SL, Harvey S, Perrino FW et al. Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease. DNA Repair (Amst) 2012;11:65-73.
28. Kavanagh D, Spitzer D, Kothari PH et al. New roles for the major human 30-50 exonuclease TREX1 in human disease. Cell Cycle 2008;7:1718-25.
29. Tan EM, Cohen AS, Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982;25:1271-7.
30. Miyawaki S. Revised Japan criteria for Sjögren syndrome. Ryumachi 2000;40:48-53.
31. Yao Y, Liu Z, Jallal B et al. Type I interferons in Sjögren's syndrome. Autoimmun Rev 2013;12:558-66.
32. Lee-Kirsch MA, Chowdhury D, Harvey S et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl) 2007;85:531-7.
33. Bachmeyer C, Farge D, Gluckman E et al. Raynaud's phenomenon and digital necrosis induced by interferonalpha. Br J Dermatol 1996;135:481-3.
34. Campo-Voegeli A, Estrach T, Marti RM et al. Acrocyanosis induced by interferon alpha(2a). Dermatology 1998;196:361-3.
35. Stetson DB, Ko JS, Heidmann T et al. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell 2008;134:587-98.
36. Chowdhury D, Beresford PJ, Zhu P et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell 2006;23:133-42.
37. de Silva U, Choudhury S, Bailey SL et al. The crystal structure of TREX1 explains the 30 nucleotide specificity and reveals a polyproline II helix for protein partnering. J Biol Chem 2007;282:10537-43.
38. Lehtinen DA, Harvey S, Mulcahy MJ et al. The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. J Biol Chem 2008;283:31649-56.
39. Fye JM, Orebaugh CD, Coffin SR et al. Dominant mutations of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. J Biol Chem 2011;286:32373-82.
40. Gall A, Treuting P, Elkon KB et al. Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease. Immunity 2012;36:120-31.
41. Saito M, Fujisawa A, Nishikomori R et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2005;52:3579-85.
42. Saito M, Nishikomori R, Kambe N et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrinassociated periodic syndrome patients. Blood 2008;111:2132-41.