{"id":9041,"date":"2023-06-01T15:12:06","date_gmt":"2023-06-01T13:12:06","guid":{"rendered":"https:\/\/www.adacyte.com\/?post_type=scientific-corner&p=9041"},"modified":"2024-04-30T13:58:07","modified_gmt":"2024-04-30T11:58:07","slug":"mild-generalised-pustular-psoriasis-patient-with-a-heterozygous-hypomorphic-mpo-variant-successfully-treated-with-granulocyte-and-monocyte-adsorption-apheresis","status":"publish","type":"scientific-corner","link":"https:\/\/www.adacyte.com\/fr\/professional\/scientific-corner\/mild-generalised-pustular-psoriasis-patient-with-a-heterozygous-hypomorphic-mpo-variant-successfully-treated-with-granulocyte-and-monocyte-adsorption-apheresis\/","title":{"rendered":"Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis"},"content":{"rendered":"
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Takuya Takeichi<\/a>\u00a01<\/a><\/sup>,\u00a0Takenori Yoshikawa<\/a>\u00a01<\/a><\/sup>,\u00a0Muhammad Nasir Iqbal<\/a>\u00a02<\/a><\/sup>,\u00a0Muhammad Farooq<\/a>\u00a03<\/a><\/sup>,\u00a0Tomoki Taki<\/a>\u00a01<\/a><\/sup>,\u00a0Yoshinao Muro<\/a>\u00a01<\/a><\/sup>,\u00a0Yutaka Shimomura<\/a>\u00a04<\/a><\/sup>,\u00a0Mariko Seishima<\/a>\u00a05<\/a><\/sup>,\u00a0Masashi Akiyama<\/a>\u00a01<\/a><\/sup>\u00a0Exp Dermatol.\u00a02023 Sep;32(9):1557-1562.\u00a0doi: 10.1111\/exd.14846.<\/p>\n<\/div>\n\n

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Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.1810C>T p.(Arg604Cys), in MPO. Our structural analysis and functional assays to measure myeloperoxidase activity suggest that the present MPO substitution is a hypomorphic variant in MPO. Thus, the mild phenotype of the present GPP patient might be associated with an incomplete hypomorphic loss-of-function variant in MPO. Additionally, the severe intractable edematous pustules and erythema improved dramatically after five rounds of granulocyte and monocyte adsorption apheresis (GMA) therapy. This is the first report of GMA treatment for GPP associated with a pathogenic variant in MPO, as far as we know. Our findings suggest that GMA might be a useful and powerful tool for controlling GPP in patients with myeloperoxidase deficiency.<\/p>\n<\/div>\n\n

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Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis – PubMed (nih.gov)<\/a><\/p>\n<\/div>\n\n

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Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis – Takeichi – 2023 – Experimental Dermatology – Wiley Online Library<\/a><\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

Takuya Takeichi\u00a01,\u00a0Takenori Yoshikawa\u00a01,\u00a0Muhammad Nasir Iqbal\u00a02,\u00a0Muhammad Farooq\u00a03,\u00a0Tomoki Taki\u00a01,\u00a0Yoshinao Muro\u00a01,\u00a0Yutaka Shimomura\u00a04,\u00a0Mariko Seishima\u00a05,\u00a0Masashi Akiyama\u00a01\u00a0Exp Dermatol.\u00a02023 Sep;32(9):1557-1562.\u00a0doi: 10.1111\/exd.14846. Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants […]<\/p>\n","protected":false},"template":"","scientific_tags":[307,157,348,424,581],"class_list":["post-9041","scientific-corner","type-scientific-corner","status-publish","hentry","scientific_tags-dermatology","scientific_tags-efficacy","scientific_tags-generalized-pustular-psoriasis","scientific_tags-gma","scientific_tags-mpo"],"acf":{"sc_authors":"https:\/\/pubmed.ncbi.nlm.nih.gov\/37261383\/<\/a>\r\n\r\nhttps:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14846<\/a>"},"yoast_head":"\nMild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis - Adacyte<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.adacyte.com\/professional\/scientific-corner\/mild-generalised-pustular-psoriasis-patient-with-a-heterozygous-hypomorphic-mpo-variant-successfully-treated-with-granulocyte-and-monocyte-adsorption-apheresis\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis - Adacyte\" \/>\n<meta property=\"og:description\" content=\"Takuya Takeichi\u00a01,\u00a0Takenori Yoshikawa\u00a01,\u00a0Muhammad Nasir Iqbal\u00a02,\u00a0Muhammad Farooq\u00a03,\u00a0Tomoki Taki\u00a01,\u00a0Yoshinao Muro\u00a01,\u00a0Yutaka Shimomura\u00a04,\u00a0Mariko Seishima\u00a05,\u00a0Masashi Akiyama\u00a01\u00a0Exp Dermatol.\u00a02023 Sep;32(9):1557-1562.\u00a0doi: 10.1111\/exd.14846. 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