Pemphigus vulgaris (PV) is an autoimmune disease caused by high concentrations of antibody to an epidermal cadherin. The disease is associated with two kinds of HLA-DR4, DQ8 haplotypes dominantly distributed among Jewish patients, and these plus DR6, DQ5 haplotypes in non-Jewish patients. Low levels of the PV antibody were found in 48% of a total of 120 asymptomatic parents, children, and siblings of 31 patients, thus exhibiting dominant inheritance. The inheritance of these low levels of antibody in asymptomatic relatives was linked to the major histocompatibility complex with a highly significant logarithm of the odds score of 9.07, almost always to a DR4 or DR6 haplotype of the patient. Disease appears to occur in susceptible individuals with low levels of antibody when a second factor, either environmental or genetic, induces high levels, sufficient to produce blisters.
Linkage of pemphigus vulgaris antibody to the major histocompatibility complex in healthy relatives of patients.
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A R Ahmed, A Mohimen, E J Yunis, N M Mirza, V Kumar, E H Beutner, C A Alper; Linkage of pemphigus vulgaris antibody to the major histocompatibility complex in healthy relatives of patients.. J Exp Med 1 February 1993; 177 (2): 419–424. doi: https://doi.org/10.1084/jem.177.2.419
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