| Literature DB >> 19479836 |
Frank T Saulsbury1, Carine H Wouters, Tammy M Martin, Carrie R Austin, Trudy M Doyle, Kelly A Goodwin, Carlos D Rosé.
Abstract
Pediatric granulomatous arthritis (PGA) has been associated with 12 different substitutions in the NOD2 gene thus far. We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution. Genotype analysis of the patient's family members revealed that her affected paternal aunt, as well as her asymptomatic father and 3 younger siblings, were heterozygous for the E383K substitution. The patient's mother did not have a NOD2 mutation. This is the first report of a pedigree in which 4 asymptomatic members carry the E383K substitution in NOD2, as well as the first observation of an asymptomatic carrier state for any of the NOD2 "Blau mutations."Entities:
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Year: 2009 PMID： 19479836 DOI： 10.1002/art.24532
Source DB: PubMed Journal: Arthritis Rheum ISSN： 0004-3591