A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease novel: Evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases

Arthritis and Rheumatism

Volumn 62, Issue 4, 2010, Pages 1158-1166

  Aróstegui, Juan I ^a   Saldaña, Ma Dolores Lopez ^b   Pascal, Mariona ^a   Clemente, Daniel ^b   Aymerich, Marta ^a   Balaguer, Francesc ^a,c   Goel, Ajay ^c   Del Castillo, Concepción Fournier ^b   Rius, Josefa ^a   Plaza, Susana ^a   Robledillo, Juan Carlos López ^b   Juan, Manel ^a   Ibañez, Mercedes ^b   Yagüe, Jordi ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; ETANERCEPT; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ARTHROPATHY; ARTICLE; CASE REPORT; CHILD; CINCA SYNDROME; CLINICAL STUDY; CONJUNCTIVITIS; CONTROLLED STUDY; DISEASE SEVERITY; EPITHELIUM CELL; FACE DYSMORPHIA; FEVER; GENE MUTATION; HEADACHE; HUMAN; INTERVIEW; LABORATORY TEST; LEUKOCYTE; LYMPHADENOPATHY; MALE; NAUSEA; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PYROSEQUENCING; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; TREATMENT OUTCOME; TREATMENT RESPONSE; URTICARIA; VOMITING;

CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; LEUKOCYTES; MOSAICISM; MUTATION; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RESTRICTION MAPPING; URTICARIA;

EID: 77950543908     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27342     Document Type: Article

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