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- W2433623786 abstract "Pemphigus vulgaris (PV) is a chronic autoimmune bullous disease of the skin and mucous membranes. Although there is some evidence pointing towards a genetic predisposition by some human leukocyte antigen (HLA) genes, familial occurrence of PV is very rare. Most of the familial PV cases so far reported have been in mother and daughter and in siblings. PV in father and son, as presented here, has not been reported in the literature before, except an unconfirmed report. The diagnosis of PV was established by histologic, cytologic studies and enzyme linked immunosorbent assay (ELISA) in Case<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M1><mml:mrow><mml:mn fontstyle=italic>1</mml:mn></mml:mrow></mml:math>and by ELISA and BIOCHIP indirect immunofluorescence test in Case<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M2><mml:mrow><mml:mn fontstyle=italic>2</mml:mn></mml:mrow></mml:math>. The son was responsive to moderate doses of methylprednisolone, with the treatment continuing with tapered doses. The father was in a subclinic condition; consequently, only close follow-up was recommended. HLA typing studies revealed identical HLA alleles of HLA-DR4 (<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M3><mml:mi mathvariant=normal>D</mml:mi><mml:mi mathvariant=normal>R</mml:mi><mml:mi mathvariant=normal>B</mml:mi><mml:msup><mml:mrow><mml:mn mathvariant=normal>1</mml:mn></mml:mrow><mml:mrow><mml:mo>⁎</mml:mo></mml:mrow></mml:msup><mml:mn mathvariant=normal>04</mml:mn></mml:math>) and HLA-<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=M4><mml:mi mathvariant=normal>D</mml:mi><mml:mi mathvariant=normal>Q</mml:mi><mml:mi mathvariant=normal>B</mml:mi><mml:msup><mml:mrow><mml:mn mathvariant=normal>1</mml:mn></mml:mrow><mml:mrow><mml:mo>⁎</mml:mo></mml:mrow></mml:msup><mml:mn mathvariant=normal>03</mml:mn></mml:math>in both of our cases; this had been found to be associated with PV in prior studies. Familial occurrences of PV and related HLA genes indicate the importance of genetic predisposition. The first occurrence of confirmed familial PV in father and son is reported here." @default.
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- W2433623786 date "2016-01-01" @default.
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- W2433623786 title "Familial Pemphigus Vulgaris Occured in a Father and Son as the First Confirmed Cases" @default.
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- W2433623786 doi "https://doi.org/10.1155/2016/1653507" @default.
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