The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

Current Opinion in Rheumatology

Volumn 15, Issue 1, 2003, Pages 61-69

  Hull, Keith M ^a,b   Shoham, Nitza ^b   Jin Chae, Jae ^b   Aksentijevich, Ivona ^b   Kastner, Daniel L ^b  

^a Office of the Director   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CRYOPYRIN; PROTEIN; PROTEIN CD2BP1; PYRIN; UNCLASSIFIED DRUG;

CHROMOSOMAL LOCALIZATION; CINCA SYNDROME; CLINICAL FEATURE; DISEASE COURSE; FAMILIAL MEDITERRANEAN FEVER; FCAS SYNDROME; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; HUMAN; HYPERIMMUNOGLOBULINEMIA E; INFLAMMATORY DISEASE; MUCKLE WELLS SYNDROME; NOMID SYNDROME; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; TRAPS SYNDROME;

AUTOIMMUNE DISEASES; BLOOD PROTEINS; CARRIER PROTEINS; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; HUMANS; MUTATION; PROTEINS;

EID: 0037216780     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-200301000-00011     Document Type: Review

References (36)

1. Galon J, Aksentijevich I, McDermott MF, et al.: TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000, 12:479-486.
2. Drenth JP, van der Meer JW: Hereditary periodic fever. N Engl J Med 2001, 345:1748-1757. A thorough review of clinical manifestations of several autoinflammatory diseases, including FMF, HIDS, and TRAPS.
3. Tunca M, Kirkali G, Soyturk M, et al.: Acute phase response and evolution of familial Mediterranean fever. Lancet 1999, 353:1415.
4. Booth DR, Lachmann HJ, Gillmore JD, et al.: Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. QJM 2001, 94:527-531.
5. French FMF Consortium: A candidate gene for familial Mediterranean fever, Nat Genet 1997, 17:25-31. One of two initial publications reporting the cloning of MEFV, the gene for FMF.
6. International FMF Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997, 90:797-807. One of two inial publications reporting the cloning of MEFV, the gene for FMF. First report of the full-length cDNA and protein sequence.
7. Centola M, Wood G, Frucht DM, et al.: The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators, Blood 2000, 95:3223-3231.
8. Mansfield E, Chae JJ, Komarow HD, et al.: The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001, 98:851-859.
9. Kastner DL, O'Shea JJ: A fever gene comes in from the cold. Nat Genet 2001, 29:241-242. An editorial summarizing recent findings on the PYRIN family of proteins.
10. Richards N, Schaner P, Diaz A, et al.: Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001, 276:39320-39329. First report describing the interaction of pyrin with ASC.
11. Srinivasula SM, Poyet JL, Razmara M, et al.: The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem 2002, 277:21119-21122. Initial description demonstrating the ability of ASC to activate procaspase-1 and consequently increase IL-1β processing.
12. Wise CA, Gillum JD, Seidman CE, et al.: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 2002, 11:961-969. Initial report describing mutations in CD2BP1/PSTPIP1 responsible for PAPA syndrome.
13. Lindor NM, Arsenault TM, Solomon H, et al.: A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc 1997, 72:611-615. Review describing the clinical features of PAPA syndrome.
14. Hoffman HM, Mueller JL, Broide DH, et al.: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001, 29:301-305. Initial report describing mutations in CIAS1 responsible for MWS and FCAS.
15. Muckle TJ: The "Muckle-Wells" syndrome. Br J Dermatol 1979, 100:87-92, Review describing the clinical features of MWS.
16. Dode C, Le Du N, Cuisset L, et al.: New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes. Am J Hum Genet 2002, 70:1498-1506. Report expanding the number of mutations in CIAS1 responsible for MWS and FCAS.
17. Aganna E, Martinon F, Hawkins PN, et al.: Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with a broad phenotype including recurrent fevers, cold sensitivity, sensorineural deafness and AA amyloidosis. Arthritis Rheum 2002, in press. Report of mutations in CIAS1 expanding the number of known mutations, as well as expanding the recognized ethnicities.
18. Hoffman HM, Wanderer AA, Broide DH: Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001, 108:615-620. This article describes the clinical features of FCAS.
19. Feldmann J, Prieur AM, Quartier P, et al.: Chronic infantile neurologic cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002, 71:198-203. First report of mutations in CIAS1 responsible for causing NOMID/CINCA.
20. Aksentijevich I, Nowak M, Mallah M, et al.: De novo germ-line mutations in CIAS1 establish NOMID/CINCA in the spectrum of genetic disorders in the pyrin family of autoinflammatory diseases. Arthritis Rheum 2002, in press. This report expands the number of mutations in CIAS1 responsible forNOMID/CINCA and summarizes all CIAS1 mutations known to date in MWS, FCAS, and NOMID/CINCA.
21. Prieur AM, Griscelli C, Lampert F, et al.: A chronic, infantile, neurologic, cutaneous and articular (CINCA) syndrome. A specific entity analyzed in 30 patients. Scand J Rheumatol Suppl 1987, 66:57-68. Excellent review of the clinical features of NOMID/ClNCA.
22. Manji GA, Wang L, Geddes BJ, et al.: PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B. J Biol Chem 2002, 277:11570-11575. First report of cryopyrin/PYPAF1/NALP3 interacting with ASC and activating NF-κB.
23. Manouvrier-Hanu S, Puech B, Piette F, et al.: Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature. Am J Med Genet 1998, 76:217-221. Review of the clinical features of Blau syndrome.
24. Miceli-Richard C, Lesage S, Rybojad M, et al.: CARD15 mutations in Blau syndrome. Nat Genet 2001, 29:19-20. Initial report describing mutations in the NBS of CARD15/NOD2 in Blau syndrome.
25. Hugot JP, Chamaillard M, Zouali H, et al.: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603. One of two initial reports identifying mutations in CARD15/NOD2 for susceptibility locus for Crohn's disease.
26. Ogura Y, Bonen DK, Inohara N, et al.: A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001, 411:603-606. One of two initial reports identifying mutations in CARD15/NOD2 for susceptibility locus for Crohn's disease.
27. Miceli-Richard C, Zouali H, Lesage S, et al.: CARD15/NOD2 analyses in spondylarthropathy. Arthritis Rheum 2002, 46:1405-1406.
28. Crane AM, Bradbury L, van Heel DA, et al.: Role of NOD2 variants in spondylarthritis. Arthritis Rheum 2002, 46:1629-1633.
29. McDermott MF, Aksentijevich I, Galon J, et al.: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999, 97:133-144. Initial report describing mutations in TNFRSF1A causing TRAPS.
30. Hull KM, Drewe E, Aksentijevich I, et al.: The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine 2002, in press. Thorough, updated review describing the clinical and genetic spectrum of TRAPS.
31. Aksentijevich I, Galon J, Soares M, et al.: The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001, 69:301-314. First report of the high frequency of the R92Q and P46L TNFRSF1A mutations, and of the association of cysteine mutations with the risk of AA amyloidosis.
32. Dode C, Hazenberg BP, Pecheux C, et al.: Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002, 17:1212-1217.
33. Chan FK, Chun HJ, Zheng L, et al.: A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science 2000, 288:2351-2354.
34. Banner DW, D'Arcy A, Janes W, et al.: Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: Implications for TNF receptor activation. Cell 1993, 73:431-445.
35. Drewe E, McDermott EM, Powell RJ: Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med 2000, 343:1044-1045.
36. Hull KM, Kastner DL, Balow JE: Hereditary periodic fever. N Engl J Med 2002, 346:1415-1416; discussion 1415-1416.