title: [Blau syndrome--a chronic granulomatous, genetic disease].
abstract: Blau syndrome is a rare hereditary granulomatous disease presenting in patients of young age with exanthema, granulomatous arthritis and uveitis. Genetic analysis has shown an autosomal dominant inheritance and a number of specific mutations on chromosome 16q in codon 334, of which the most predominant are R334W and R334Q. Blau syndrome exists in Caucasian, Asian and Afro-American families, and de novo mutations have been reported. The estimated minimum incidence in Denmark is 0.05 per 100,000 person-years. Blau syndrome has pathological, clinical and therapeutic features in common with sarcoidosis but rarely involves the lungs or other parenchymatous organs. Discrimination between Blau syndrome and early-onset sarcoidosis should rely on chromosome analysis.
authors.affiliation: H:S Rigshospitalet, Hjertecentret, Medicinsk Afdeling B, Afsnit for Lungetransplantation, København Ø. milman@rh.dk
authors.forename: Nils
authors.initials: N
authors.lastname: Milman
authors.forename: Keld-Erik
authors.initials: KE
authors.lastname: Byg
mesh_terms: D001168:Arthritis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004890:Erythema / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005076:Exanthema / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006099:Granuloma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D011379:Prognosis; D013577:Syndrome; D014605:Uveitis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein