Genetics of monogenic autoinflammatory diseases: Past successes, future challenges

Nature Reviews Rheumatology

Volumn 7, Issue 8, 2011, Pages 469-478

  Aksentijevich, Ivona ^a   Kastner, Daniel L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CRYOPYRIN; CYTOKINE; GENE PRODUCT; INTERLEUKIN 1; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 10 RECEPTOR ALPHA; INTERLEUKIN 10 RECEPTOR BETA; MEVALONATE KINASE; PROTEASOME; PROTEIN LIPIN 2; PROTEIN PSTPIP1; PROTEIN PYRIN; PROTEIN TNFRSF1A; UNCLASSIFIED DRUG;

ANTIBODY TITER; ANTIGEN SPECIFICITY; AUTOINFLAMMATORY DISEASE; BLAU SYNDROME; CINCA SYNDROME; ENTEROCOLITIS; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL MEDITERRANEAN FEVER; GENE MAPPING; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IMMUNOPATHOGENESIS; INNATE IMMUNITY; JOINT CONTRACTURE; LINKAGE ANALYSIS; MACROCYTIC ANEMIA; MAJEED SYNDROME; MOLECULAR CLONING; MONOGENIC DISORDER; MUCKLE WELLS SYNDROME; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; PANNICULITIS; PAPA SYNDROME; PRIORITY JOURNAL; REVIEW; T LYMPHOCYTE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

AUTOIMMUNE DISEASES; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IMMUNOGENETIC PHENOMENA; INFLAMMATION;

EID: 80051470107     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2011.94     Document Type: Review

References (66)

1. McDermott, M. F. et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97, 133-144 (1999). (Pubitemid 29165896)
2. Galon, J., Aksentijevich, I., McDermott, M. F., O'Shea, J. J. & Kastner, D. L. TNFRSF1A mutations and autoinflammatory syndromes. Curr. Opin. Immunol. 12, 479-486 (2000). (Pubitemid 30410357)
3. Masters, S. L., Simon, A., Aksentijevich, I. & Kastner, D. L. Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 27, 621-668 (2009).
4. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90, 797-807 (1997).
5. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat. Genet. 17, 25-31 (1997).
6. Drenth, J. P. et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat. Genet. 22, 178-181 (1999). (Pubitemid 29264814)
7. Houten, S. M. et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat. Genet. 22, 175-177 (1999). (Pubitemid 29264813)
8. Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A. & Kolodner, R. D. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat. Genet. 29, 301-305 (2001). (Pubitemid 33096455)
9. Ferguson, P. J. et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J. Med. Genet. 42, 551-557 (2005). (Pubitemid 40993830)
10. Aksentijevich, I. et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N. Engl. J. Med. 360, 2426-2437 (2009).
11. Reddy, S. et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N. Engl. J. Med. 360, 2438-2444 (2009).
12. Agarwal, A. K. et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am. J. Hum. Genet. 87, 866-872 (2010).
13. Jeru, I. et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc. Natl Acad. Sci. USA 105, 1614-1619 (2008). (Pubitemid 351346563)
14. Remmers, E. F. et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet's disease. Nat. Genet. 42, 698-702 (2010).
15. Mizuki, N. et al. Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci. Nat. Genet. 42, 703-706 (2010).
16. van der Hilst, J. C. et al. Long-Term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 87, 301-310 (2008).
17. Samuels, J. et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 77, 268-297 (1998). (Pubitemid 28376140)
18. Naruto, T. et al. Hyper-IgD syndrome with novel mutation in a Japanese girl. Mod. Rheumatol. 19, 96-99 (2009).
19. Nisole, S., Stoye, J. P. & Saib, A. TRIM family proteins: Retroviral restriction and antiviral defence. Nat. Rev. Microbiol. 3, 799-808 (2005). (Pubitemid 41518740)
20. Touitou, I. et al. Infevers: An evolving mutation database for auto-inflammatory syndromes. Hum. Mutat. 24, 194-198 (2004). (Pubitemid 39095595)
21. Institut de genetique humaine. Infevers: An online database for autoinflammatory mutations [online], http://fmf.igh.cnrs.fr/ISSAID/infevers/ (2010).
22. Touitou, I. et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis. Rheum. 56, 1706-1712 (2007). (Pubitemid 46764102)
23. Grateau, G. et al. Amyloidosis and auto-inflammatory syndromes. Curr. Drug Targets Inflamm. Allergy 4, 57-65 (2005). (Pubitemid 40584854)
24. Ben-Chetrit, E., Lerer, I., Malamud, E., Domingo, C. & Abeliovich, D. The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant? Hum. Mutat. 15, 385-386 (2000).
25. Ryan, J. G. et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann. Rheum. Dis. 69, 1383-1388 (2010).
26. Marek-Yagel, D., Bar-Joseph, I., Pras, E. & Berkun, Y. Is E148Q a benign polymorphism or a disease-causing mutation? J. Rheumatol. 36, 2372 (2009).
27. Gershoni-Baruch, R., Brik, R., Shinawi, M. & Livneh, A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur. J. Hum. Genet. 10, 145-149 (2002). (Pubitemid 34414051)
28. Masters, S. L. et al. The SPRY domain of SSB-2 adopts a novel fold that presents conserved Par-4-binding residues. Nat. Struct. Mol. Biol. 13, 77-84 (2006). (Pubitemid 43049406)
29. Woo, J. S., Suh, H. Y., Park, S. Y. & Oh, B. H. Structural basis for protein recognition by B30.2/SPRY domains. Mol. Cell 24, 967-976 (2006).
30. Chae, J. J. et al. Gain-of-function pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. Immunity 34, 755-768 (2011).
31. Marek-Yagel, D. et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum. 60, 1862-1866 (2009).
32. Bootym M. G. et al. Familial Mediterranean fever with a single MEFV mutation: Where is the second hit? Arthritis Rheum. 60, 1851-1861 (2009).
33. Mandey, S. H., Schneiders, M. S., Koster, J. & Waterham, H. R. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum. Mutat. 27, 796-802 (2006). (Pubitemid 44205073)
34. Cuisset, L. et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur. J. Hum. Genet. 9, 260-266 (2001). (Pubitemid 32366693)
35. Houten, S. M., van Woerden, C. S., Wijburg, F. A., Wanders, R. J. & Waterham, H. R. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with hyper-IgD and periodic fever syndrome, in the Netherlands. Eur. J. Hum. Genet. 11, 196-200 (2003). (Pubitemid 36372395)
36. Simon, A., Mariman, E. C., van der Meer, J. W. & Drenth, J. P. A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. Am. J. Med. 114, 148-152 (2003). (Pubitemid 36183599)
37. Frenkel, J. et al. Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 46, 2794-2803 (2002). (Pubitemid 36118945)
38. Glocker, E. O. et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N. Engl. J. Med. 361, 2033-2045 (2009).
39. Hull, K. M. et al. The TNF receptor-Associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 81, 349-368 (2002).
40. Simon, A. et al. Concerted action of wild-Type and mutant TNF receptors enhances inflammation in TNF receptor 1-Associated periodic fever syndrome. Proc. Natl Acad. Sci. USA 107, 9801-9806 (2010).
41. Pelagatti, M. A. et al. Long-Term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 63, 1141-1150 (2011).
42. Ravet, N. et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann. Rheum. Dis. 65, 1158-1162 (2006). (Pubitemid 44277389)
43. Dowds, T. A., Masumoto, J., Zhu, L., Inohara, N. & Nunez, G. Cryopyrin-induced interleukin 1β secretion in monocytic cells: Enhanced activity of disease-Associated mutants and requirement for ASC. J. Biol. Chem. 279, 21924-21928 (2004). (Pubitemid 38679382)
44. Yu, J. W. et al. Cryopyrin and pyrin activate caspase-1, but not NF-?B, via ASC oligomerization. Cell Death Differ. 13, 236-249 (2006).
45. Hawkins, P. N., Bybee, A., Aganna, E. & McDermott, M. F. Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum. 50, 2708-2709 (2004). (Pubitemid 39062735)
46. Goldbach-Mansky, R. et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N. Engl. J. Med 355, 581-592 (2006). (Pubitemid 44200651)
47. Aksentijevich, I. et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 56, 1273-1285 (2007). (Pubitemid 46608652)
48. Hawkins, P. N., Lachmann, H. J., Aganna, E. & McDermott, M. F. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 50, 607-612 (2004). (Pubitemid 38198844)
49. Porksen, G. et al. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients-expanding phenotype of CIAS1 related autoinflammatory syndrome. Eur. J. Haematol. 73, 123-127 (2004). (Pubitemid 38980112)
50. Wise, C. A. et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum. Mol. Genet. 11, 961-969 (2002). (Pubitemid 34449783)
51. Shoham, N. G. et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc. Natl Acad. Sci. USA 100, 13501-13506 (2003). (Pubitemid 37444771)
52. Grosse, J. et al. Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood 107, 3350-3358 (2006).
53. Chitu, V. et al. Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice. Blood 114, 2497-2505 (2009).
54. Hurtado-Nedelec, M. et al. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: A study of PSTPIP2, NOD2, and LPIN2 genes. J. Rheumatol. 37, 401-409 (2010).
55. Miceli-Richard, C. et al. CARD15 mutations in Blau syndrome. Nat. Genet. 29, 19-20 (2001). (Pubitemid 32801800)
56. Kanazawa, N. et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-?B activation: Common genetic etiology with Blau syndrome. Blood 105, 1195-1197 (2005). (Pubitemid 40170893)
57. Albrecht, M., Lengauer, T. & Schreiber, S. Disease-Associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence. Bioinformatics 19, 2171-2175 (2003). (Pubitemid 37483974)
58. Borghini, S. et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 63, 830-839 (2011).
59. Green, E. D. & Guyer, M. S. Charting a course for genomic medicine from base pairs to bedside. Nature 470, 204-213 (2011).
60. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 28, 1061-1073 (2010).
61. Feldmann, J. et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am. J. Hum. Genet. 71, 198-203 (2002). (Pubitemid 34734724)
62. Aksentijevich, I. et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-Associated autoinflammatory diseases. Arthritis Rheum. 46, 3340-3348 (2002). (Pubitemid 35453546)
63. Garg, A. et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-Associated lipodystrophy. J. Clin. Endocrinol. Metab. 95, E58-E63 (2010).
64. Chan, F. K., Chun, H. J., Zheng, L., Siegel, R. M., Bui, K. L. & Lenardo, M. J. A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science 288, 2351-2354 (2000). (Pubitemid 30448156)
65. Banner, D.W. et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNFβ complex: Implications for TNF receptor activation. Cell 73, 431-445 (1993). (Pubitemid 23143344)
66. Saito, M. et al. Disease-Associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-Associated periodic syndrome patients. Blood 111, 2132-2141 (2008). (Pubitemid 351451525)