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We herein present a case of DGI involving a Japanese man who latently had a complement 7 deficiency with compound heterozygous variants. Patient concerns: A previously healthy 51-year-old Japanese man complained of sudden-onset high fever. Physical examination revealed various skin lesions including red papules on his trunk and extremities, an impetigo-like pustule on left forearm, and tendinitis of his right forefinger. Diagnosis: Blood culture testing detected gram-negative cocci, which was confirmed to be Neisseria gonorrhoeae based on mass spectrometry and a pathogen-specific PCR test. Interventions: Screening tests for underlying immunocompromised factors uncovered that complement activities (CH50) was undetectable. With a suspicion of a congenital complement deficiency, genetic analysis revealed rare single nucleotide variants in complement 7 (C7), including c.281-1G\u003eT and a novel variant c.1454C\u003eT (p.A485V). 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Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants : A case report
http://hdl.handle.net/10659/00007418
http://hdl.handle.net/10659/00007418493b9faf-0b52-470e-87a3-6b50452f2aae
名前 / ファイル | ライセンス | アクション |
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R-2022-231_ohtani.pdf (375.4 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2023-03-20 | |||||
タイトル | ||||||
タイトル | Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants : A case report | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | complement addition test | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | complement deficiency | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | disseminated gonococcal infection | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | genome analysis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Neisseria gonorrhoeae | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | sexually transmitted infection | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | complement addition test | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | complement deficiency | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | disseminated gonococcal infection | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | genome analysis | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Neisseria gonorrhoeae | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | sexually transmitted infection | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Kageyama, Misaki
× Kageyama, Misaki× Hagiya, Hideharu× Ueda, Yasutaka× 大谷, 克城× Fukumori, Yasuo× Inoue, Norimitsu× Wakamiya, Nobutaka× Yoneda, Nanoka× Kimura, Keigo× Nagasawa, Motonori× Nakagami, Futoshi× Nishi, Isao× Sugimoto, Ken× Rakugi, Hiromi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Rationale: Complement deficiency are known to be predisposed to disseminated gonococcal infection (DGI). We herein present a case of DGI involving a Japanese man who latently had a complement 7 deficiency with compound heterozygous variants. Patient concerns: A previously healthy 51-year-old Japanese man complained of sudden-onset high fever. Physical examination revealed various skin lesions including red papules on his trunk and extremities, an impetigo-like pustule on left forearm, and tendinitis of his right forefinger. Diagnosis: Blood culture testing detected gram-negative cocci, which was confirmed to be Neisseria gonorrhoeae based on mass spectrometry and a pathogen-specific PCR test. Interventions: Screening tests for underlying immunocompromised factors uncovered that complement activities (CH50) was undetectable. With a suspicion of a congenital complement deficiency, genetic analysis revealed rare single nucleotide variants in complement 7 (C7), including c.281-1G>T and a novel variant c.1454C>T (p.A485V). CH50 was normally recovered by adding purified human C7 to the patient's serum, supporting that the patient has C7 deficiency with compound heterozygous variants. Outcomes: Under a diagnosis of DGI, the patient underwent an antibiotic treatment with cefotaxime for a week and was discharged without any sequela. Lessons: DGI is a rare sexually-transmitted infection that potentially induces systemic complications. Complement immunity usually defeats N. gonorrhoeae and prevents the organism from causing DGI. This case highlighted the importance of suspecting a complement deficiency when a person develops DGI. | |||||
書誌情報 |
Medicine 巻 100, 号 13, p. e25265-1-e25265-4, 発行日 2021-04 |
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DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1097/MD.0000000000025265 | |||||
権利(URI) | ||||||
権利情報 | https://creativecommons.org/ | https://creativecommons.org/ | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
出版者 | ||||||
出版者 | Wolters Kluwer Health, Inc. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article |