title: HLA-DRB1* alleles and symptoms associated with Heerfordt's syndrome in sarcoidosis.
abstract: Heerfordt's syndrome (HS) consists in its complete form of uveitis, parotid or salivary gland enlargement and cranial nerve palsy. The objective of the present study was to analyse if there are also links between HLA-DRB1* alleles and HS, as it is a specific phenotype of sarcoidosis. 1,000 patients with sarcoidosis, out of whom 83 had symptoms associated with HS, were included in the study together with a group of 2,000 healthy individuals from the same population, matched for sex and age. HLA-DRB1* allelic groups were determined for all individuals, and comparisons were made between different disease subgroups and between patients and healthy controls. We found that the HLA-DRB1*04 allele was overrepresented in patients with symptoms associated with HS. 83 (8.3%) of all patients had one or more of the symptoms and 46 (55%) of them were HLA-DRB1*04 positive. 44 (55%) of the patients with ocular sarcoidosis, i.e. the most common symptom associated with HS, were HLA-DRB1*04 positive, compared with 35.9% of healthy controls (p=0.0008), and only 26.6% of the whole group of sarcoidosis patients (p<0.0001). HLA-DRB1*04 seems to protect against overall sarcoidosis but appears to be a significant risk factor for ocular sarcoidosis as well as for other manifestations associated with HS.
authors.affiliation: Dept of Medicine, Division of Respiratory Medicine, Södersjukhuset (Stockholm South General Hospital), Stockholm, Sweden. pernilla.darlington@sodersjukhuset.se
authors.forename: P
authors.initials: P
authors.lastname: Darlington
authors.forename: L
authors.initials: L
authors.lastname: Tallstedt
authors.forename: L
authors.initials: L
authors.lastname: Padyukov
authors.forename: I
authors.initials: I
authors.lastname: Kockum
authors.forename: K
authors.initials: K
authors.lastname: Cederlund
authors.forename: A
authors.initials: A
authors.lastname: Eklund
authors.forename: J
authors.initials: J
authors.lastname: Grunewald
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012507:Sarcoidosis / Q000235:genetics*; D014605:Uveitis / Q000235:genetics; D014608:Uveoparotid Fever / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D059811:HLA-DRB1 Chains; C527195:HLA-DRB1*04 antigen