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- W4285992714 abstract "Pemphigus Vulgaris (PV) is a rare autoimmune blistering disease with a multifactorial origin. Key Human Leukocyte Antigen (HLA) alleles, including DRB1*0402 and DQB1*0503, have been linked to the development of PV. However, it is not known how HLA types vary with ethnicity and how they shape autoimmunity in PV. We assessed correlations between factors including HLA genotype, ethnicity, auto-antibody levels, and lesion distribution in a cohort of 293 patients. Eighty-one percent of patients typed as either DRB1*0402 or DQB1*0503 with a high prevalence of DRB1*0402 in patients of Ashkenazi Jewish or Caucasian (non-Jewish) descent and DQB1*0503 in patients of Southeast Asian descent. Patients typing as HLA DRB1*0402 had higher levels of anti-desmoglein (Dsg)3 antibodies than patients without DRB1*0402 and had mucosal only lesions more often than cutaneous only or mucocutaneous lesions. Patients typing as DQB1*0503 had high levels of anti-Dsg1 antibodies compared to other groups and higher rates of mucocutaneous disease than other lesion types. We also report an unexpected HLA association with DRB1*0804 in PV patients of African descent, of which 64% carried the allele. DRB1*0804 was rarely seen in other ethnicities. DRB1*0804 positive patients presented with highly elevated levels of anti-Dsg3. However, neither African heritage nor DRB1*0804 correlated with a predilection to any specific lesion morphology. A group of patients that carried neither DRB1*0402, nor DQB1*0503 or DRB1*0804 had the lowest levels of anti-Dsg3 and the highest rate of solely cutaneous disease compared to carriers of these alleles. These data show the impact of genetic factors on the autoimmune response. It is important to note though that these correlations are not strict; any patient can present with any lesion morphology or antibody profile. Nevertheless, our study advances the goal of elucidating mechanisms that determine disease activity, knowledge necessary to identify individuals at risk, predict disease prognosis, and eventually achieve individually tailored medical therapies." @default.
- W4285992714 created "2022-07-21" @default.
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- W4285992714 date "2022-08-01" @default.
- W4285992714 modified "2023-09-28" @default.
- W4285992714 title "028 Patient genetics shape the autoimmune response in pemphigus vulgaris" @default.
- W4285992714 doi "https://doi.org/10.1016/j.jid.2022.05.082" @default.
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