 | ||
HLA-DR4 (DR4) is an HLA-DR serotype that recognizes the DRB1*04 gene products. The DR4 serogroup is large and has a number of moderate frequency alleles spread over large regions of the world.
Contents
Serology
The serological identification of DR4 is good. The serology of DRB1*04:17 to *04:60 is unknown.
By serotype
DR4 is associated with extraarticularrheumatoid arthritis, hydralazine-induced female systemic lupus erythematosus, pemphigoid gestationis, pemphigus foliaceus, obstructive hypertrophic cardiomyopathy, IgA nephropathy, 'shared syndrome'-systemic sclerosis/rheumatoid arthritis and polymyalgia rheumatica.
By allele
DRB1*04 is associated with increased risk for alopecia areata.
DRB1*04:01 is associated with multiple sclerosis, rheumatoid arthritis, type 1 diabetes, lyme disease induced arthritis
DRB1*04:02: drug-triggered/idiopathic pemphigus vulgaris, type 1 diabetes, SLE associated anti-cardiolipin and anti-β2 glycoprotein I
DRB1*04:03: polycystic ovary syndrome, SLE associated anti-cardiolipin and anti-β2 glycoprotein I
DRB1*04:04: anti-citrullinated fibrinogen in rheumatoid arthritis, autoimmune hepatitis
DRB1*04:05: rheumatoid arthritis, Autoimmune hepatitis, type 1 diabetes
DRB1*04:06: caspase-8 autoantibodies silicosis-systemic sclerosis (SSc)-systemic lupus erythematosus (SLE)
DRB1*04:09: T. cruzi infection with cardiomyopathy
By haplotype
DR4-DQ8 is a risk factor for papillary thyroid carcinoma, juvenile diabetes, coeliac disease and rheumatoid arthritis.
DRB1*04:DQA1*03:03-DQB1*04:01 haplotype: type III autoimmune polyglandular syndrome, autoimmune hepatitis, autoimmune pancreatitis
DRB1*04:DQA1*03-DQB1*03:02 haplotype: Type 1 diabetes with DRB1*04:01, *04:05, *04:02 increasing risk when DQ8 is present.
By genotype
DRB1*01:01/*04:04 and *01:01/*04:01 increases risk of mortality in rheumatoid arthritis, with eschemic heart disease and smoking. these same genotypes are associated with rheumatoid vasculitis.