Mutational analysis in neonatal-onset multisystem inflammatory disease: Comment on the articles by Frenkel et al and Saito et al [1]

Arthritis and Rheumatism

Volumn 54, Issue 8, 2006, Pages 2703-2704

  Aksentijevich, Ivona ^a   Remmers, Elaine F ^a   Goldbach Mansky, Raphaela ^a   Reiff, Andreas ^b   Kastner, Daniel L ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHRALGIA; CINCA SYNDROME; ELECTROPHORESIS; GENE MUTATION; GROWTH RETARDATION; HEADACHE; HUMAN; LETTER; MALAISE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SOMATIC MUTATION; VOMITING;

CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FEVER; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; INFLAMMATION; MUTATION; URTICARIA;

EID: 33746946359     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.22022     Document Type: Letter

References (8)

1. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005;17:586-99.
2. 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;29:301-5.
3. Feldman J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis S, et al. Chronic, infantile, neurological, cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71:198-203.
4. Aksentijevich I, Nownk M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflimmatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46:3340-8.
5. Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004;103:2809-15.
6. Frenkel J, van Kempen MJ, Kuis W, van Amstel HK. Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-reach repeat domain of CIAS1 [letter]. Arthritis Rheum 2004;50:2719-20.
7. Saito M, Fujisawa A, Nishikomori R, Kambe N, Nakata-Hizume M, Yoshimoto M, et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2005;52:3579-85.
8. Matsubayashi T, Sugiura H, Arai T, Oh-Ishi T, Inamo Y. Anakinra therapy for CINCA syndrome with a novel mutation in exon4 of the CIAS1 gene. Acta Paediat 2006;95:246-9.