Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review

Autoimmunity Reviews

Volumn 8, Issue 3, 2009, Pages 228-232

  Punzi, Leonardo ^a   Furlan, Antonio ^a   Podswiadek, Marta ^a   Gava, Alessandra ^a   Valente, Marialuisa ^a   De Marchi, Mario ^b   Peserico, Andrea ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

Autoinflammatory syndromes; Blau syndrome; CARD15; Granulomatous arthritis rash uveitis; NOD2

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; NONSTEROID ANTIINFLAMMATORY AGENT; NUCLEOTIDE BINDING PROTEIN; PREDNISONE;

ARTHRITIS; BLAU SYNDROME; CATARACT; CELL STRUCTURE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CROHN DISEASE; ELECTRON MICROSCOPY; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GIANT CELL; GLAUCOMA; GRANULOMATOUS INFLAMMATION; HISTOPATHOLOGY; HUMAN; ITALY; JOINT BIOPSY; LOW DRUG DOSE; MISSENSE MUTATION; PATHOGENESIS; RASH; REVIEW; SKIN BIOPSY; UVEITIS;

ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; ARTHRITIS; CARRIER PROTEINS; CHROMOSOME DISORDERS; CROHN DISEASE; EXANTHEMA; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MUTATION, MISSENSE; NOD2 SIGNALING ADAPTOR PROTEIN; PEDIGREE; POLYMORPHISM, GENETIC; SYNDROME; TIME FACTORS; UVEITIS;

EID: 58149474704     PISSN: 15689972     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.autrev.2008.07.034     Document Type: Review

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