Document Detail


Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies.
MedLine Citation:
PMID:  18609262     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an autoinflammatory disease, defined by the triad of urticarial rash, neurological manifestations, and arthropathy, accompanied by recurrent fevers and systemic inflammation. Increasing neurological deficits result from aseptic meningitis. Sensorineural hearing loss and progressive loss of vision caused by keratoconjunctivitis or papilloedema may emerge. An autosomal-dominant inheritance is suspected although sporadic cases are reported frequently. Sixty per cent of CINCA patients carry mutations in the cold-induced autoinflammatory syndrome (CIAS1) gene. We report the favourable response of a 23-year-old CINCA patient without CIAS1 mutations to treatment with the recombinant interleukin-1 (IL-1) receptor antagonist anakinra.
Authors:
C M Hedrich; B Fiebig; S Sallmann; N Bruck; G Hahn; J Roesler; A Roesen-Wolff; G Heubner; M Gahr
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Scandinavian journal of rheumatology     Volume:  37     ISSN:  1502-7732     ISO Abbreviation:  Scand. J. Rheumatol.     Publication Date:    2008 Sep-Oct
Date Detail:
Created Date:  2008-09-29     Completed Date:  2008-10-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0321213     Medline TA:  Scand J Rheumatol     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  385-9     Citation Subset:  IM    
Affiliation:
Department of Paediatric Rheumatology and Immunology, University Children's Hospital Dresden, 01307 Dresden, Germany. christian.hedrich@uniklinikum-dresden.de
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MeSH Terms
Descriptor/Qualifier:
Adult
Antirheumatic Agents / therapeutic use
Carrier Proteins / genetics*
Female
Humans
Interleukin 1 Receptor Antagonist Protein / therapeutic use*
Interleukin-1beta / antagonists & inhibitors*
Mutation / genetics*
Nervous System Diseases / drug therapy*,  genetics
Rheumatic Diseases / drug therapy*,  genetics
Syndrome
Urticaria / drug therapy*,  genetics
Chemical
Reg. No./Substance:
0/Antirheumatic Agents; 0/Carrier Proteins; 0/Interleukin 1 Receptor Antagonist Protein; 0/Interleukin-1beta; 0/NLRP3 protein, human

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