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Items: 10

1.

Efficacy of anti-IL-1 treatment in Majeed syndrome.

Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ.

Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.

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, TedgÄrd 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.

Autoinflammatory bone disorders.

Ferguson PJ, El-Shanti HI.

Curr Opin Rheumatol. 2007 Sep;19(5):492-8. Review.

PMID:
17762617
4.

Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.

El-Shanti HI, Ferguson PJ.

Clin Orthop Relat Res. 2007 Sep;462:11-9. Review.

PMID:
17496555
5.

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ.

Arthritis Rheum. 2007 Mar;56(3):960-4.

6.

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.

Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P.

BMC Pediatr. 2007 Jan 23;7:3.

7.

Advances in the understanding of the congenital dyserythropoietic anaemias.

Wickramasinghe SN, Wood WG.

Br J Haematol. 2005 Nov;131(4):431-46. Review.

PMID:
16281933
8.

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.

9.

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
10.

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

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