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

Raphaela Goldbach-Mansky, Natalie J. Dailey, Scott W. Canna, Ana Gelabert, Janet Jones, Benjamin I. Rubin, H. Jeffrey Kim, Carmen Brewer, Christopher Zalewski, Edythe Wiggs, Suvimol Hill, Maria L. Turner, Barbara I. Karp, Ivona Aksentijevich, Frank Pucino, Scott R. Penzak, Margje H. Haverkamp, Leonard Stein, Barbara S. Adams, Terry L. MooreRobert C. Fuhlbrigge, Bracha Shaham, James N. Jarvis, Kathleen O'Neil, Richard K. Vehe, Laurie O. Beitz, Gregory Gardner, William P. Hannan, Robert W. Warren, William Horn, Joe L. Cole, Scott M. Paul, Philip N. Hawkins, Hang Pham Tuyet, Christopher Snyder, Robert A. Wesley, Steven C. Hoffmann, Steven M. Holland, John A. Butman, Daniel L. Kastner

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare. RESULTS: All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P

Original languageEnglish (US)
Pages (from-to)581-592
Number of pages12
JournalNew England Journal of Medicine
Volume355
Issue number6
DOIs
StatePublished - Aug 10 2006
Externally publishedYes

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Cryopyrin-Associated Periodic Syndromes
Interleukin 1 Receptor Antagonist Protein
Interleukin-1
Exanthema
Aseptic Meningitis
Mutation
Interleukin-1 Receptors
Joint Diseases
Blood Sedimentation
Hearing Loss
Amyloid
Intellectual Disability
C-Reactive Protein
Fever
Body Weight
Inflammation
Inhibition (Psychology)
Serum
Genes
Proteins

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Goldbach-Mansky, R., Dailey, N. J., Canna, S. W., Gelabert, A., Jones, J., Rubin, B. I., ... Kastner, D. L. (2006). Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. New England Journal of Medicine, 355(6), 581-592. https://doi.org/10.1056/NEJMoa055137

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. / Goldbach-Mansky, Raphaela; Dailey, Natalie J.; Canna, Scott W.; Gelabert, Ana; Jones, Janet; Rubin, Benjamin I.; Kim, H. Jeffrey; Brewer, Carmen; Zalewski, Christopher; Wiggs, Edythe; Hill, Suvimol; Turner, Maria L.; Karp, Barbara I.; Aksentijevich, Ivona; Pucino, Frank; Penzak, Scott R.; Haverkamp, Margje H.; Stein, Leonard; Adams, Barbara S.; Moore, Terry L.; Fuhlbrigge, Robert C.; Shaham, Bracha; Jarvis, James N.; O'Neil, Kathleen; Vehe, Richard K.; Beitz, Laurie O.; Gardner, Gregory; Hannan, William P.; Warren, Robert W.; Horn, William; Cole, Joe L.; Paul, Scott M.; Hawkins, Philip N.; Tuyet, Hang Pham; Snyder, Christopher; Wesley, Robert A.; Hoffmann, Steven C.; Holland, Steven M.; Butman, John A.; Kastner, Daniel L.

In: New England Journal of Medicine, Vol. 355, No. 6, 10.08.2006, p. 581-592.

Research output: Contribution to journalArticle

Goldbach-Mansky, R, Dailey, NJ, Canna, SW, Gelabert, A, Jones, J, Rubin, BI, Kim, HJ, Brewer, C, Zalewski, C, Wiggs, E, Hill, S, Turner, ML, Karp, BI, Aksentijevich, I, Pucino, F, Penzak, SR, Haverkamp, MH, Stein, L, Adams, BS, Moore, TL, Fuhlbrigge, RC, Shaham, B, Jarvis, JN, O'Neil, K, Vehe, RK, Beitz, LO, Gardner, G, Hannan, WP, Warren, RW, Horn, W, Cole, JL, Paul, SM, Hawkins, PN, Tuyet, HP, Snyder, C, Wesley, RA, Hoffmann, SC, Holland, SM, Butman, JA & Kastner, DL 2006, 'Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition', New England Journal of Medicine, vol. 355, no. 6, pp. 581-592. https://doi.org/10.1056/NEJMoa055137
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. New England Journal of Medicine. 2006 Aug 10;355(6):581-592. https://doi.org/10.1056/NEJMoa055137
Goldbach-Mansky, Raphaela ; Dailey, Natalie J. ; Canna, Scott W. ; Gelabert, Ana ; Jones, Janet ; Rubin, Benjamin I. ; Kim, H. Jeffrey ; Brewer, Carmen ; Zalewski, Christopher ; Wiggs, Edythe ; Hill, Suvimol ; Turner, Maria L. ; Karp, Barbara I. ; Aksentijevich, Ivona ; Pucino, Frank ; Penzak, Scott R. ; Haverkamp, Margje H. ; Stein, Leonard ; Adams, Barbara S. ; Moore, Terry L. ; Fuhlbrigge, Robert C. ; Shaham, Bracha ; Jarvis, James N. ; O'Neil, Kathleen ; Vehe, Richard K. ; Beitz, Laurie O. ; Gardner, Gregory ; Hannan, William P. ; Warren, Robert W. ; Horn, William ; Cole, Joe L. ; Paul, Scott M. ; Hawkins, Philip N. ; Tuyet, Hang Pham ; Snyder, Christopher ; Wesley, Robert A. ; Hoffmann, Steven C. ; Holland, Steven M. ; Butman, John A. ; Kastner, Daniel L. / Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. In: New England Journal of Medicine. 2006 ; Vol. 355, No. 6. pp. 581-592.
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abstract = "BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare. RESULTS: All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P",
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T1 - Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition

AU - Goldbach-Mansky, Raphaela

AU - Dailey, Natalie J.

AU - Canna, Scott W.

AU - Gelabert, Ana

AU - Jones, Janet

AU - Rubin, Benjamin I.

AU - Kim, H. Jeffrey

AU - Brewer, Carmen

AU - Zalewski, Christopher

AU - Wiggs, Edythe

AU - Hill, Suvimol

AU - Turner, Maria L.

AU - Karp, Barbara I.

AU - Aksentijevich, Ivona

AU - Pucino, Frank

AU - Penzak, Scott R.

AU - Haverkamp, Margje H.

AU - Stein, Leonard

AU - Adams, Barbara S.

AU - Moore, Terry L.

AU - Fuhlbrigge, Robert C.

AU - Shaham, Bracha

AU - Jarvis, James N.

AU - O'Neil, Kathleen

AU - Vehe, Richard K.

AU - Beitz, Laurie O.

AU - Gardner, Gregory

AU - Hannan, William P.

AU - Warren, Robert W.

AU - Horn, William

AU - Cole, Joe L.

AU - Paul, Scott M.

AU - Hawkins, Philip N.

AU - Tuyet, Hang Pham

AU - Snyder, Christopher

AU - Wesley, Robert A.

AU - Hoffmann, Steven C.

AU - Holland, Steven M.

AU - Butman, John A.

AU - Kastner, Daniel L.

PY - 2006/8/10

Y1 - 2006/8/10

N2 - BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare. RESULTS: All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P

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DO - 10.1056/NEJMoa055137

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