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Items: 20

1.

An autoinflammatory disease due to homozygous deletion of the IL1RN locus.

Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J.

N Engl J Med. 2009 Jun 4;360(23):2438-44. doi: 10.1056/NEJMoa0809568.

2.

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R.

N Engl J Med. 2009 Jun 4;360(23):2426-37. doi: 10.1056/NEJMoa0807865.

3.

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

Masters SL, Simon A, Aksentijevich I, Kastner DL.

Annu Rev Immunol. 2009;27:621-68. doi: 10.1146/annurev.immunol.25.022106.141627. Review.

4.

Autoinflammatory diseases.

Touitou I, Koné-Paut I.

Best Pract Res Clin Rheumatol. 2008 Oct;22(5):811-29. doi: 10.1016/j.berh.2008.08.009. Review.

PMID:
19028365
5.

Acitretin is a safe treatment option for infantile pustular psoriasis.

Ergin S, Ersoy-Evans S, Sahin S, Ozkaya O.

J Dermatolog Treat. 2008;19(6):341-3. doi: 10.1080/09546630802132643.

PMID:
18608713
6.
7.

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

Jesus AA, Silva CA, Segundo GR, Aksentijevich I, Fujihira E, Watanabe M, Carneiro-Sampaio M, Duarte AJ, Oliveira JB.

J Clin Immunol. 2008 Mar;28(2):134-8. Epub 2007 Dec 15.

PMID:
18080732
8.

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

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, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL.

N Engl J Med. 2006 Aug 10;355(6):581-92.

9.

Familial autoinflammatory diseases: genetics, pathogenesis and treatment.

Stojanov S, Kastner DL.

Curr Opin Rheumatol. 2005 Sep;17(5):586-99. Review.

PMID:
16093838
10.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H.

J Med Genet. 2005 Jul;42(7):551-7.

11.

Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response.

Simon A, Bijzet J, Voorbij HA, Mantovani A, van der Meer JW, Drenth JP.

J Intern Med. 2004 Sep;256(3):247-53.

12.

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP.

Neurology. 2004 Mar 23;62(6):994-7.

PMID:
15037710
13.

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 Jr, 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.

Arthritis Rheum. 2002 Dec;46(12):3340-8.

14.

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G.

Am J Hum Genet. 2002 Jul;71(1):198-203. Epub 2002 May 24.

15.

The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.

Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F.

Eur J Pediatr. 2001 Dec;160(12):705-10.

PMID:
11795677
16.

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.

Simon A, Cuisset L, Vincent MF, van Der Velde-Visser SD, Delpech M, van Der Meer JW, Drenth JP.

Ann Intern Med. 2001 Sep 4;135(5):338-43.

PMID:
11529697
18.

On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.

Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri N.

J Pediatr. 2000 Sep;137(3):441-2. No abstract available.

PMID:
10969284
19.

A new cytokine-receptor binding mode revealed by the crystal structure of the IL-1 receptor with an antagonist.

Schreuder H, Tardif C, Trump-Kallmeyer S, Soffientini A, Sarubbi E, Akeson A, Bowlin T, Yanofsky S, Barrett RW.

Nature. 1997 Mar 13;386(6621):194-200.

PMID:
9062194
20.

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.

Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH.

J Pediatr. 1989 Nov;115(5 Pt 1):730-4.

PMID:
2809904
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