An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K

Rheumatology

Volumn 50, Issue 2, 2011, Pages 419-420

  Murphy, Grainne ^a   Daly, Mary ^a   O'Sullivan, Miriam ^a   Stack, John ^a   Rowczenio, Dorota ^b   Lachmann, Helen ^b   Shanahan, Fergus ^a   Harney, Sinead ^a   Hawkins, Philip ^b   Molloy, Michael ^a  

^a University College Cork and INFANT Centre   (Ireland)

^b ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; INTERLEUKIN 1;

ADULT; ARTHRALGIA; CASE REPORT; CONJUNCTIVITIS; CYTOKINE PRODUCTION; FEVER; GENE MUTATION; HUMAN; KIDNEY CARCINOMA; LETTER; MALE; MONOZYGOTIC TWINS; MUCKLE WELLS SYNDROME; PERICARDITIS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ANTIRHEUMATIC AGENTS; CARRIER PROTEINS; CHILD; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MALE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 78751686001     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/keq280     Document Type: Letter

References (5)

1. 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; 29:301-53.
2. Gattorno M, Tassi S, Carta S et al. Pattern of interleukin-1beta secretion in response to lipopolysac-charide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 2007;56: 3138-48.
3. Muckle TJ, Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med 1962;31: 235-48.
4. Mirault T, Launay D, Cuisset L et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 2006;54:1697-700.
5. Yoshida N, Ikemoto S, Narita K et al. Interleukin-6, tumour necrosis factor alpha and interleukin-1beta in patients with renal cell carcinoma. Br J Cancer 2002;86:1396-400.