Study of HLA DR and DQ Types in Patients with Pemphigus Vulgaris as Compared to that in Healthy Subjects

Anuradha Priyadarshini, - (2015) Study of HLA DR and DQ Types in Patients with Pemphigus Vulgaris as Compared to that in Healthy Subjects. Masters thesis, Christian Medical College, Vellore.


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OBJECTIVES: Pemphigus is an acquired immunobullous disease of the skin and mucosa with genetic predisposition and autoimmune aetiology. HLA Class II genes are associated with pemphigus. IgG1 and IgG4 antibodies are the pathogenic antibodies in pemphigus of which IgG4 is associated with active disease. The primary objective of this study was to find out the HLA DR and DQ types in pemphigus vulgaris in India, and to compare it to that in normal healthy controls. Secondary objective was to look at the correlation between disease severity in terms of PDAI score and serum IgG4 levels. METHODS: A hospital based cross-sectional study done over a period of 10 months. The diagnosis of pemphigus was established by clinical examination, biopsy, DIF and anti-Dsg ELISA. Pemphigus vulgaris patients were enrolled for HLA DR and DQ typing by PCR-SSOP method. Renal transplant donors were taken as controls. Clinical examination and PDAI score was done in pemphigus vulgaris and foliaceus patients with active disease and it was correlated with serum total IgG4 levels in them. Chi-square test was applied to analyze the frequencies of HLA DR and DQ types in cases versus controls. Spearman Rho was used to correlate serum IgG4 levels and PDAI scores. Mann-Whitney U test was used to look for the association between HLA types and disease severity. RESULTS: The study included 72 patients, 54 (75%) pemphigus vulgaris and 18 (25%) pemphigus foliaceus. Mean age at disease onset for pemphigus vulgaris patients was 39.2 ±13.3 years, M : F ratio 1 : 1.45. In pemphigus foliaceus group mean age at disease onset was 44.3 ± 12.9 years, M:F ratio 3.5:1. The mean PDAI score was 23.5 in pemphigus vulgaris and 33.8 in foliaceus patients. Typical features on histopathology was seen in 88.4% pemphigus vulgaris cases and 100% foliaceus cases. DIF was positive in 91.4% vulgaris and 100% foliaceus cases. HLA typing was done in 50 patients and compared with 50 controls. HLA DRB1*14 was present in 94% cases versus 36% controls (p<0.001). HLA DQB1*05 was present in 94% cases versus 48% controls (p<0.001). The haplotype DRB1*14, DQB1*05 was present in 88% cases versus 28% controls (p<0.001). Negative association was found with DRB1*15 (14% cases versus 32% controls, p<0.05) and DQB1*06 (16% cases versus 38% controls, p<0.05). HLA DQB1*03 was associated with more severe disease. Mean serum IgG4 was 1114.4mg/L in pemphigus vulgaris patients and 1147.1mg/L in foliaceus patients. Positive correlation between PDAI and IgG4 levels was present in pemphigus vulgaris patients, but did not reach significance levels. This correlation was not observed in pemphigus foliaceus group.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Pemphigus, Pemphigus Disease Area Index (PDAI), Human Leukocyte Antigen (HLA) DRB1, HLA DQB1, Immunoglobulin G4 (IgG4).
Subjects: MEDICAL > Dermatology Venereology and Leprosy
Depositing User: Punitha K
Date Deposited: 05 May 2018 09:53
Last Modified: 05 May 2018 09:53

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