BRIEF REPORT An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus

被引：290

作者：

Reddy, Sreelatha ^{[1
]}

Jia, Shuang ^{[1
]}

Geoffrey, Rhonda ^{[1
]}

Lorier, Rachel ^{[1
]}

Suchi, Mariko

Broeckel, Ulrich ^{[1
]}

Hessner, Martin J. ^{[1
]}

Verbsky, James ^{[1
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53201 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 360卷 / 23期

关键词：

INTERLEUKIN-1 RECEPTOR ANTAGONIST; MUCKLE-WELLS-SYNDROME; NF-KAPPA-B; CIAS1; MUTATIONS; MICE LACKING; INFLAMMATION; FAMILY; ARTHROPATHY; ACTIVATION; SPECTRUM;

D O I：

10.1056/NEJMoa0809568

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1-receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.

引用

页码：2438 / 2444

页数：7

共 21 条

[1] NALP3 forms an IL-lβ-Processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder
Agostini, L
Martinon, F
Burns, K
McDermott, MF
Hawkins, PN
Tschopp, J
[J]. IMMUNITY, 2004, 20 (03) : 319 - 325
[2] 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
Aksentijevich, I
Nowak, M
Mallah, M
Chae, JJ
Watford, WT
Hofmann, SR
Stein, L
Russo, R
Goldsmith, D
Dent, P
Rosenberg, HF
Austin, F
Remmers, EF
Balow, JE
Rosenzweig, S
Komarow, H
Shoham, NG
Wood, G
Jones, J
Mangra, N
Carrero, H
Adams, BS
Moore, TL
Schikler, K
Hoffman, H
Lovell, DJ
Lipnick, R
Barron, K
O'Shea, JJ
Kastner, DL
Goldbach-Mansky, R
[J]. ARTHRITIS AND RHEUMATISM, 2002, 46 (12): : 3340 - 3348
[3] An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
Aksentijevich, Ivona
Masters, Seth L.
Ferguson, Polly J.
Dancey, Paul
Frenkel, Joost
van Royen-Kerkhoff, Annet
Laxer, Ron
Tedgard, Ulf
Cowen, Edward W.
Pham, Tuyet-Hang
Booty, Matthew
Estes, Jacob D.
Sandler, Netanya G.
Plass, Nicole
Stone, Deborah L.
Turner, Maria L.
Hill, Suvimol
Butman, John A.
Schneider, Rayfel
Babyn, Paul
El-Shanti, Hatem I.
Pope, Elena
Barron, Karyl
Bing, Xinyu
Laurence, Arian
Lee, Chyi-Chia R.
Chapelle, Dawn
Clarke, Gillian I.
Ohson, Kamal
Nicholson, Marc
Gadina, Massimo
Yang, Barbara
Korman, Benjamin D.
Gregersen, Peter K.
van Hagen, P. Martin
Hak, A. Elisabeth
Huizing, Marjan
Rahman, Proton
Douek, Daniel C.
Remmers, Elaine F.
Kastner, Daniel L.
Goldbach-Mansky, Raphaela
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (23) : 2426 - 2437
[4] Opposing activities of two novel members of the IL-1 ligand family regulate skin inflammation
Blumberg, Hal
Dinh, Huyen
Trueblood, Esther S.
Pretorius, James
Kugler, David
Weng, Ning
Kanaly, Suzanne T.
Towne, Jennifer E.
Willis, Cynthia R.
Kuechle, Melanie K.
Sims, John E.
Peschon, Jacques J.
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (11) : 2603 - 2614
[5] Two novel IL-1 family members, IL-1δ and IL-1ε, function as an antagonist and agonist of NF-κB activation through the orphan IL-1 receptor-related protein 2
Debets, R
Timans, JC
Homey, B
Zurawski, S
Sana, TR
Lo, S
Wagner, J
Edwards, G
Clifford, T
Menon, S
Bazan, JF
Kastelein, RA
[J]. JOURNAL OF IMMUNOLOGY, 2001, 167 (03) : 1440 - 1446
[6] Human T regulatory cells can use the perforin pathway to cause autologous target cell death
Grossman, WJ
Verbsky, JW
Barchet, W
Colonna, M
Atkinson, JP
Ley, TJ
[J]. IMMUNITY, 2004, 21 (04) : 589 - 601
[7] Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
Hawkins, PN
Lachmann, HJ
Aganna, E
McDermott, MF
[J]. ARTHRITIS AND RHEUMATISM, 2004, 50 (02): : 607 - 612
[8] Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
Hoffman, HM
Mueller, JL
Broide, DH
Wanderer, AA
Kolodner, RD
[J]. NATURE GENETICS, 2001, 29 (03) : 301 - 305
[9] Development of chronic inflammatory arthropathy resembling rheumatoid arthritis in interleukin 1 receptor antagonist-deficient mice
Horai, R
Saijo, S
Tanioka, M
Nakae, S
Sudo, K
Okahara, A
Ikuse, T
Asano, M
Iwakura, Y
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2000, 191 (02) : 313 - 320
[10] The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
Hull, KM
Shoham, N
Chae, JJ
Aksentijevich, I
Kastner, DL
[J]. CURRENT OPINION IN RHEUMATOLOGY, 2003, 15 (01) : 61 - 69

← 1 2 3 →