Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition

New England Journal of Medicine

Volumn 355, Issue 6, 2006, Pages 581-592

  Goldbach Mansky, Raphaela ^a   Dailey, Natalie J ^a   Canna, Scott W ^a   Gelabert, Ana ^a   Jones, Janet ^a   Rubin, Benjamin I ^b   Kim, H Jeffrey ^c   Brewer, Carmen ^c   Zalewski, Christopher ^c   Wiggs, Edythe ^d   Hill, Suvimol ^e   Turner, Maria L ^f   Karp, Barbara I ^d   Aksentijevich, Ivona ^a   Pucino, Frank ^e   Penzak, Scott R ^e   Haverkamp, Margje H ^g   Stein, Leonard ⁱ   Adams, Barbara S ^j   Moore, Terry L ^k   Fuhlbrigge, Robert C ^l   Shaham, Bracha ^m   Jarvis, James N ⁿ   O'Neil, Kathleen ⁿ   Vehe, Richard K ^o   Beitz, Laurie O ^p   Gardner, Gregory ^q   Hannan, William P ^r   Warren, Robert W ^s   Horn, William ^t   Cole, Joe L ^u   Paul, Scott M ^e   Hawkins, Philip N ^v   Tuyet, Hang Pham ^a   Snyder, Christopher ^a   Wesley, Robert A ^e   Hoffmann, Steven C ^h   Holland, Steven M ^g   Butman, John A ^e   Kastner, Daniel L ^a   more..

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

^g NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^h NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

ⁱ UNIVERSITY OF NORTH CAROLINA   (United States)

^j UNIVERSITY OF MICHIGAN   (United States)

^k SAINT LOUIS UNIVERSITY   (United States)

^l BOSTON CHILDREN S HOSPITAL   (United States)

^m CHILDREN S HOSPITAL LOS ANGELES   (United States)

ⁿ UNIVERSITY OF OKLAHOMA   (United States)

^o UNIVERSITY OF MINNESOTA   (United States)

^p SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^q UNIVERSITY OF WASHINGTON   (United States)

^r NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^s BAYLOR COLLEGE OF MEDICINE   (United States)

^t Watauga Medical Center   (United States)

^u Adult and Pediatric Rheumatology   (United States)

^v ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

C REACTIVE PROTEIN; CARRIER PROTEIN; INTERLEUKIN 18; INTERLEUKIN 1BETA; PROTEIN CRYOPYRIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SERUM AMYLOID A; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOINFLAMMATORY DISEASE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CIAS1 GENE; CINCA SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIARRHEA; DRUG RESPONSE; ERYTHEMA; ERYTHROCYTE SEDIMENTATION RATE; FEMALE; GENE; GENE MUTATION; HUMAN; INJECTION SITE REACTION; MALE; PAIN; PRIORITY JOURNAL; RASH; SYMPTOMATOLOGY; UPPER RESPIRATORY TRACT INFECTION; URINARY TRACT INFECTION;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; HEARING LOSS; HUMANS; INFLAMMATION; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MALE; MENINGITIS; MENTAL RETARDATION; MUTATION; PAPILLEDEMA; RECEPTORS, INTERLEUKIN-1; SIALOGLYCOPROTEINS; SYNDROME; URTICARIA;

EID: 33746876396     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa055137     Document Type: Article

References (36)

1. Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 1981;99:79-83.
2. Database of human genes and genetic disorders: OMIM (Online Mendelian Inheritance in Man). Bethesda, Md.: National Center for Biotechnology Information, 2006. (Accessed July 14, 2006, at http://www.ncbi.nlm.nih.gov/ entrez/Omim.)
3. Prieur AM, Griscelli C, Lampert F, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome: a specific entity analysed in 30 patients. Scand J Rheumatol Suppl 1987;66:57-68.
4. Feldmann J, Prieur AM, Quartier P, 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 2002;71:198-203.
5. Aksentijevich I, Nowak M, Mallah M, 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 2002;46:3340-8.
6. Stojanov S, Kastner DL. Familial autoinf lammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17:586-99.
7. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5.
8. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319-25.
9. 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;277:11570-5.
10. Wang L, Manji GA, Grenier JM, et al. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine pro cessing. J Biol Chem 2002;277:29874-80.
11. O'Connor W Jr, Harton JA, Zhu X, Linhoff MW, Ting JP. Cutting edge: CIAS1/cryopyrin/PYPAF1/NALP3/CATERPILLER 1.1 is an inducible inflammatory mediator with NF-kappaB suppressive properties. J Immunol 2003;171:6329-33.
12. Yu JW, Wu J, Zhang Z, et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappa B, via ASC oligomerization. Cell Death Differ 2006;13:236-49.
13. Kanneganti TD, Ozoren N, Body-Malapel M, et al. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature 2006;440:233-6.
14. Grenier JM, Wang L, Manji GA, et al. Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. FEBS Lett 2002;530:73-8.
15. Dowds TA, Masumoto J, Zhu L, Inohara N, Nunez G. Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J Biol Chem 2004;279:21924-8.
16. Lovell DJ, Bowyer SL, Solinger AM. Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inf lammatory disease. Arthritis Rheum 2005;52:1283-6.
17. Frenkel J, Wulffraat NM, Kuis W. Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. Arthritis Rheum 2004;50:3738-9.
18. Granel B, Serratrice J, Disdier P, Weiller PJ. Dramatic improvement with anakinra in a case of chronic infantile neurological cutaneous and articular (CINCA) syndrome. Rheumatology (Oxford) 2005;44:689-90.
19. Wilkins J, Gallimore JR, Tennent GA, et al. Rapid automated enzyme immunoassay of serum amyloid A. Clin Chem 1994;40:1284-90.
20. Hoffmann SC, Kampen RL, Amur S, et al. Molecular and immunohistochemical characterization of the onset and resolution of human renal allograft ischemia-reperfusion injury. Transplantation 2002;74:916-23.
21. Aganna E, Martinon F, Hawkins PN, et al. 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 2002;46:2445-52. [Erratum, Arthritis Rheum 2002;46:3398.]
22. Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003;348:2583-4.
23. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607-12.
24. Russell EJ, Geremia GK, Johnson CE, et al. Multiple cerebral metastases: detectability with Gd-DTPA-enhanced MR imaging. Radiology 1987;165:609-17.
25. Brekenfeld C, Foert E, Hundt W, Kenn W, Lodeann KP, Gehl HB. Enhancement of cerebral diseases: how much contrast agent is enough? Comparison of 0.1, 0.2, and 0.3 mmol/kg gadoteridol at 0.2 T with 0.1 mmol/kg gadoteridol at 1.5 T. Invest Radiol 2001;36:266-75.
26. Frosch MP, Anthony DC, de Girolami U. The central nervous system. In: Kumar V, Abbas AK, Fausto N, eds. Robbins and Cotran pathologic basis of disease. 7th ed. Philadelphia: Elsevier Saunders, 2005:1347-420.
27. Gripshover NM, Ellner JJ. Chronic meningitis. In: Mandell GL, Bennett JE, Dolin R, eds. Mandell, Douglas, and Bennett's principles and practice of infectious diseases. 5th ed. Philadelphia: Churchill Livingstone, 2000:998-1000.
28. Luheshi GN. Cytokines and fever: mechanisms and sites of action. Ann N Y Acad Sci 1998;856:83-9.
29. Kagiwada K, Chida D, Sakatani T, et al. Interleukin (IL)-6, but not IL-1, induction in the brain downstream of cyclooxygenase-2 is essential for the induction of febrile response against peripheral IL-1alpha. Endocrinology 2004;145:5044-8.
30. Li S, Ballou LR, Morham SG, Blatteis CM. Cyclooxygenase-2 mediates the febrile response of mice to interleukin-1beta. Brain Res 2001;910:163-73.
31. Benveniste EN. Inflammatory cytokines within the central nervous system: sources, function, and mechanism of action. Am J Physiol 1992;263:C1-C16.
32. Dinarello CA. Interleukin-1, interleukin-1 receptors and interleukin-1 receptor antagonist. Int Rev Immunol 1998;16:457-99.
33. Anderson JP, Mueller JL, Rosengren S, et al. Structural, expression, and evolutionary analysis of mouse CIAS1. Gene 2004;338:25-34.
34. Breder CD, Dinarello CA, Saper CB. Interleukin-1 immunoreactive innervation of the human hypothalamus. Science 1988;240:321-4.
35. Vitkovic L, Bockaert J, Jacque C. "Inflammatory" cytokines: neuromodulators in normal brain? J Neurochem 2000;74:457-71.
36. Dinarello CA. Blocking IL-1 in systemic inflammation. J Exp Med 2005;201:1355-9.