SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency

Piranit Kantaputra, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Romanee Chaiwarith, Chareon Choonhakarn, Worrachet Intachai, Natalina Quarto, Sissades Tongsima, James R. Ketudat Cairns, Chumpol Ngamphiw, John A. McGrath, Mati Chuamanochan

研究成果: Article同行評審

19 引文 斯高帕斯(Scopus)

摘要

Adult-onset immunodeficiency syndrome (AOID) with anti-interferon (IFN)-γ autoantibodies is characterized by an AIDS-like illness with disruptive IFN-γ signaling. Patients generally present with recurrent and disseminated opportunistic infections along with neutrophilic dermatoses. Generalized pustular psoriasis (GPP; Online Mendelian Inheritance in Man #614204) is characterized by acute generalized erythema and scaling with numerous aseptic pustules. Mutations in SERPINA3 have been reported as predisposing risk factors for both AOID and GPP. Here, we report two unrelated patients, one with AOID and a pustular skin reaction and the other with GPP, who both carried the same heterozygous variant c.718G>A (p.Val240Met) in SERPINA1. Our observation of a shared mutation in SERPINA1 in AOID and GPP indicate possible pathobiological and disease mechanism similarities in these two disorders. Thus, variants in both SERPINA1, SERPINA3, and potentially other SERPIN family members may be associated with the etiology of GPP and AOID.

原文English
頁(從 - 到)1597-1601
頁數5
期刊Journal of Dermatology
48
發行號10
DOIs
出版狀態Published - 2021 10月

All Science Journal Classification (ASJC) codes

  • 皮膚科

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