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HLA Associations with Disease
HLA Marker Associated Disease(s) Notes
HLA-B27
  • Seronegative spondyloarthropathies
  • Ankylosing spondylitis
  • Reactive arthritis
  • Psoriatic arthritis
  • IBD-associated arthritis
MHC class I association
strongly linked to seronegative arthropathies
HLA-DR3
  • Type 1 diabetes mellitus
  • SLE
  • Graves disease
  • Hashimoto thyroiditis
  • Addison disease
Often paired with DR4 in T1DM; linked to multiple autoimmune endocrinopathies
HLA-DR4
  • Rheumatoid arthritis
  • Type 1 diabetes mellitus
  • Addison disease
Also associated with DR3 in T1DM; key marker in RA susceptibility
HLA-DR2
  • Multiple sclerosis
  • Hay fever
  • SLE
  • Goodpasture syndrome
Mixed autoimmune + hypersensitivity conditions; MS, SLE, Goodpasture
HLA-DQ2 / DQ8
  • Celiac disease
“DQ2/DQ8 = Celiac you ate” mnemonic; screen in gluten-sensitive patients
HLA-DR5
  • Pernicious anemia
  • Hashimoto thyroiditis
Autoimmune thyroid disease marker; also linked to B12 deficiency
HLA-A3
  • Hemochromatosis
Classic association with hemochromatosis; high yield board linkage
HLA-B8
  • Myasthenia gravis
  • Graves disease
  • Addison disease
Common in autoimmune polyendocrine syndromes; memory mnemonic: “8 = autoimmune great”
MHC Class I: HLA-A, HLA-B, HLA-C
MHC Class II: HLA-DP, HLA-DQ, HLA-DR