Caps — pathogenesis, presentation and treatment of an autoinflammatory disease

Seminars in Immunopathology

Volumn 37, Issue 4, 2015, Pages 377-385

  Kuemmerle Deschner, Jasmin B ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Cryopyrin associated periodic syndrome; IL 1 inhibition; Mutation; Autoinflammation

Indexed keywords

AMYLOID A PROTEIN; ANTIINFLAMMATORY AGENT; BIOLOGICAL MARKER; CANAKINUMAB; CRYOPYRIN; GLUTAMIC ACID; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLAMMASOME; INTERLEUKIN 1; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 18; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; LYSINE; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN LIKE RECEPTOR; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RILONACEPT;

ABDOMINAL PAIN; AMYLOIDOSIS; ARTHRALGIA; ARTHROPATHY; ASEPTIC MENINGITIS; BONE DEFORMATION; BONE MALFORMATION; BRAIN ATROPHY; CHORIORETINITIS; CHRONIC INFLAMMATION; CHRONIC PAIN; CIAS1 GENE; CINCA SYNDROME; COGNITIVE DEFECT; COLD EXPOSURE; CONJUNCTIVITIS; CORNEA NEOVASCULARIZATION; CYTOKINE PRODUCTION; CYTOKINE RELEASE; DELAYED DIAGNOSIS; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DRUG ACTIVITY; DRUG APPROVAL; DRUG BINDING; DRUG EFFICACY; DRUG HALF LIFE; DRUG SAFETY; DRY EYE; EARLY DIAGNOSIS; EMOTIONAL DISORDER; ENCEPHALITIS; ENZYME ACTIVATION; EPISCLERITIS; EYE REDNESS; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FATIGUE; FEVER; GAIN OF FUNCTION MUTATION; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GROWTH RETARDATION; HEADACHE; HEREDITY; HETEROZYGOTE; HOST RESISTANCE; HUMAN; INFECTION; INNATE IMMUNITY; INTRACRANIAL HYPERTENSION; JOINT SWELLING; KERATITIS; KIDNEY FAILURE; LIMB PAIN; LYMPHOCYTIC INFILTRATION; MOSAICISM; MUCKLE WELLS SYNDROME; MUTATIONAL ANALYSIS; MYALGIA; NEUROLOGIC DISEASE; NEUTROPHIL CHEMOTAXIS; NLRP3 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC DISK ANOMALY; PAPILLEDEMA; PAPULE; PATHOPHYSIOLOGY; PENETRANCE; PERCEPTION DEAFNESS; PHENOTYPE; POLYARTHRITIS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN CLEAVAGE; PROTEIN FUNCTION; PROTEIN STRUCTURE; PROTEIN TARGETING; PRURITUS; QUALITY OF LIFE; RARE DISEASE; RETINA VASCULITIS; REVIEW; SEQUENCE ANALYSIS; SHIVERING; SIGNAL TRANSDUCTION; SKIN BIOPSY; SOMATIC MUTATION; URTICARIA; UVEITIS; VASCULITIS; VISUAL IMPAIRMENT; VITRITIS; AUTOIMMUNE DISEASE; BIOSYNTHESIS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; GENETIC ASSOCIATION STUDY; GENETICS; IMMUNOLOGY; INFLAMMATION; METABOLISM; MUTATION;

AUTOIMMUNE DISEASES; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; DELAYED DIAGNOSIS; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNITY, INNATE; INFLAMMASOMES; INFLAMMATION; INTERLEUKIN-1; MOSAICISM; MUTATION; PROGNOSIS; RARE DISEASES;

EID: 84943363130     PISSN: 18632297     EISSN: 18632300     Source Type: Journal    
DOI: 10.1007/s00281-015-0491-7     Document Type: Review

References (60)

1. Hoffman HM, Wanderer AA, Broide DH (2001) Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108(4):615–620
2. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29(3):301–305
3. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P et al (2002) 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(12):3340–3348
4. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint BG (2002) 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(1):198–203
5. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C et al (2008) The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 29(6):803–808
6. Infevers: the registry of hereditary auto-inflammatory disorders mutations. last Accessed March 2013
7. Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R et al (2007) The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 56(4):1273–1285
8. Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM (2011) NLRP3 E311K mutation in a large family with Muckle- Wells syndrome - description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther 13(6):R196
9. Levy R, Gerard L, Kuemmerle-Deschner J, Lachmann HJ, Kone- Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A et al (2014) Phenotypic and genotypic characteristics of cryopyrinassociated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis
10. Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R et al (2011) High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an InternationalMulticenter Collaborative Study. Arthritis Rheum 63(11):3625–3632
11. Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, Lachmann HJ, Bybee A, Gaudet R, Woo P et al (2002) Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 46(9):2445–2452
12. Kone-Paut I, Darce-Bello M, Shahram F, Gattorno M, Cimaz R, Ozen S, Cantarini L, Tugal-Tutktun I, Assaad-Khalil S, Hofer M et al (2011) Registries in rheumatological and musculoskeletal conditions. Paediatric Behcet’s disease: an international cohort study of 110 patients. One-year follow-up data. Rheumatology (Oxford) 50(1):184–188
13. Rieber N, Gavrilov A, Hofer L, Singh A, Oz H, Endres T, Schafer I, Handgretinger R, Hartl D, Kuemmerle-Deschner J (2015) A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. Clin Immunol 157(1):56–64
14. Ye Z, Ting JP (2008) NLR, the nucleotide-binding domain leucinerich repeat containing gene family. Curr Opin Immunol 20(1):3–9
15. Petrilli V, Dostert C, Muruve DA, Tschopp J (2007) The inflammasome: a danger sensing complex triggering innate immunity. Curr Opin Immunol 19(6):615–622
16. Janeway CA Jr, Medzhitov R (2002) Innate immune recognition. Annu Rev Immunol 20:197–216
17. Doherty TA, Brydges SD, Hoffman HM (2011) Autoinflammation: translating mechanism to therapy. J Leukoc Biol 90(1):37–47
18. Martinon F, Burns K, Tschopp J (2002) The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 10(2):417–426
19. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20(3):319–325
20. Martinon F, Mayor A, Tschopp J (2009) The inflammasomes: guardians of the body. Annu Rev Immunol 27:229–265
21. Hornung V, Bauernfeind F, Halle A, Samstad EO, Kono H, Rock KL, Fitzgerald KA, Latz E (2008) Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization. Nat Immunol 9(8):847–856
22. Halle A, Hornung V, Petzold GC, Stewart CR, Monks BG, Reinheckel T, Fitzgerald KA, Latz E, Moore KJ, Golenbock DT (2008) The NALP3 inflammasome is involved in the innate immune response to amyloid-beta. Nat Immunol 9(8):857–865
23. Jiang Y, Wang M, Huang K, Zhang Z, Shao N, Zhang Y, Wang W, Wang S (2012) Oxidized low-density lipoprotein induces secretion of interleukin-1beta by macrophages via reactive oxygen species-dependent NLRP3 inflammasome activation. Biochem Biophys Res Commun 425(2):121–126
24. Duewell P, Kono H, Rayner KJ, Sirois CM, Vladimer G, Bauernfeind FG, Abela GS, Franchi L, Nunez G, Schnurr M et al (2010) NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals. Nature 464(7293):1357–1361
25. Bauernfeind FG, Horvath G, Stutz A, Alnemri ES, MacDonald K, Speert D, Fernandes-Alnemri T, Wu J, Monks BG, Fitzgerald KA et al (2009) Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression. J Immunol 183(2):787–791
26. Franchi L, Eigenbrod T, Nunez G (2009) Cutting edge: TNF-alpha mediates sensitization to ATP and silica via the NLRP3 inflammasome in the absence of microbial stimulation. J Immunol 183(2):792–796
27. Segovia J, Sabbah A, Mgbemena V, Tsai SY, Chang TH, Berton MT, Morris IR, Allen IC, Ting JP, Bose S (2012) TLR2/MyD88/ NF-kappaB pathway, reactive oxygen species, potassium efflux activates NLRP3/ASC inflammasome during respiratory syncytial virus infection. PLoS One 7(1):e29695
28. Ito S, Hara Y, Kubota T (2014) CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction. Arthritis Res Ther 16(1):R52
29. Goldbach-Mansky R, Kastner DL (2009) Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol 124(6):1141–1149, quiz 1150–1141
30. Ozkurede VU, Franchi L (2012) Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol 167(3):382–390
31. Balavoine JF, de Rochemonteix B, Williamson K, Seckinger P, Cruchaud A, Dayer JM (1986) Prostaglandin E2 and collagenase production by fibroblasts and synovial cells is regulated by urine-derived human interleukin 1 and inhibitor(s). J Clin Invest 78(4):1120–1124
32. Hannum CH, Wilcox CJ, Arend WP, Joslin FG, Dripps DJ, Heimdal PL, Armes LG, Sommer A, Eisenberg SP, Thompson RC (1990) Interleukin-1 receptor antagonist activity of a human interleukin-1 inhibitor. Nature 343(6256):336–340
33. Dinarello CA (2009) Immunological and inflammatory functions of the interleukin-1 family. Annu Rev Immunol 27:519–550
34. Hawkins PN, Lachmann HJ, McDermott MF (2003) Interleukin-1- receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 348(25):2583–2584
35. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, Anderson JP, Wanderer AA, Firestein GS (2004) Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 364(9447):1779–1785
36. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E et al (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355(6):581–592
37. Farasat S, Aksentijevich I, Toro JR (2008) Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol 144(3): 392–402
38. Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I (2011) Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis 70(3):495–499
39. Stych B, Dobrovolny D (2008) Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients’ lives. Curr Med Res Opin 24(6):1577–1582
40. Toplak I, Rihtaric D, Hostnik P, Grom J, Stukelj M, Valencak Z (2012) Identification of a genetically diverse sequence of porcine reproductive and respiratory syndrome virus in Slovenia and the impact on the sensitivity of four molecular tests. J Virol Methods 179(1):51–56
41. Fye KH, Siegel DH, Connolly MK (2007) Diagnosis of Muckle-Wells syndrome - 33 years later. J Rheumatol 34(12): 2505–2506
42. Goldbach-Mansky R (2011) Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep 13(2):123–131
43. Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Canellas J, Takei S, Kobayashi N, Callejas-Rubio JL et al (2015) Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis 74(3):603–610
44. Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R et al (2011) High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum 63(11):3625–3632
45. Kastner DL (2005) Hereditary periodic fever syndromes. Hematol Am Soc Hematol Educ Program 2005:74–81
46. Dollfus H, Hafner R, Hofmann HM, Russo RA, Denda L, Gonzales LD, DeCunto C, Premoli J, Melo-Gomez J, Jorge JP et al (2000) Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 118(10):1386–1392
47. Alejandre N, Ruiz-Palacios A, Garcia-Aparicio AM, Blanco-Kelly F, Bermudez S, Fernandez-Sanz G, Romero FI, Arostegui JI, Ayuso C, Jimenez-Alfaro I et al (2014) Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation. Rheumatology (Oxford) 53(6):1095–1099
48. Kawai M, Yoshikawa T, Nishikomori R, Heike T, Takahashi K (2013) Obvious optic disc swelling in a patient with cryopyrinassociated periodic syndrome. Clin Ophthalmol 7:1581–1585
49. Ahmadi N, Brewer CC, Zalewski C, King KA, Butman JA, Plass N, Henderson C, Goldbach-Mansky R, Kim HJ (2011) Cryopyrinassociated periodic syndromes: otolaryngologic and audiologic manifestations. Otolaryngol–Head Neck Surg Off J Am Acad Otolaryngol-Head Neck Surg 145(2):295–302
50. Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM (2013) Hearing loss in Muckle-Wells syndrome. Arthritis Rheum 65(3):824–831
51. Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R (2007) Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol 37(2):145–152
52. Dode C, Cuisset L, Delpech M, Grateau G (2003) TNFRSF1 A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis. J Nephrol 16(3):435–437
53. Hashkes PJ, Lovell DJ (1997) Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr 130(4):513–515
54. Lachmann HJ, Goodman HJ, Gilbertson JA, Gallimore JR, Sabin CA, Gillmore JD, Hawkins PN (2007) Natural history and outcome in systemic AA amyloidosis. N Engl J Med 356(23):2361–2371
55. Foell D, Wittkowski H, Vogl T, Roth J (2007) S100 proteins expressed in phagocytes: a novel group of damage-associated molecular pattern molecules. J Leukoc Biol 81(1):28–37
56. Wittkowski H, Kuemmerle-Deschner JB, Austermann J, Holzinger D, Goldbach-Mansky R, Gramlich K, Lohse P, Jung T, Roth J, Benseler SM et al (2011) MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes. Ann Rheum Dis 70(12):2075–2081
57. Nirmala N, Grom A, Gram H (2014) Biomarkers in systemic juvenile idiopathic arthritis: a comparison with biomarkers in cryopyrin-associated periodic syndromes. Curr Opin Rheumatol 26(5):543–552
58. Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA, Zalewski C, Kim HJ, Bishop R, Hill S et al (2012) Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum 64(7):2375–2386
59. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 360(23):2416–2425
60. Hoffman HM (2009) Rilonacept for the treatment of cryopyrinassociated periodic syndromes (CAPS). Expert Opin Biol Ther 9(4):519–531