ID | 62248 |
フルテキストURL | |
著者 |
Kageyama, Misaki
Department of General Medicine, Osaka University Hospital
Hagiya, Hideharu
Department of General Medicine, Osaka University Hospital
ORCID
Kaken ID
researchmap
Ueda, Yasutaka
Department of Hematology and Oncology, Osaka University Hospital
Ohtani, Katsuki
The Japanese Association for Complement Research
Fukumori, Yasuo
Department of Molecular Genetics, Wakayama Medical University
Inoue, Norimitsu
The Japanese Association for Complement Research
Wakamiya, Nobutaka
The Japanese Association for Complement Research
Yoneda, Nanoka
Laboratory for Clinical Investigation, Osaka University Hospital
Kimura, Keigo
Laboratory for Clinical Investigation, Osaka University Hospital
Nagasawa, Motonori
Department of General Medicine, Osaka University Hospital
Nakagami, Futoshi
Department of General Medicine, Osaka University Hospital
Nishi, Isao
Laboratory for Clinical Investigation, Osaka University Hospital
Sugimoto, Ken
Department of General Medicine, Osaka University Hospital
Rakugi, Hiromi
Department of General Medicine, Osaka University Hospital
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抄録 | 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. |
キーワード | complement addition test
complement deficiency
disseminated gonococcal infection
genome analysis
Neisseria gonorrhoeae
sexually transmitted infection
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発行日 | 2021-04-02
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出版物タイトル |
Medicine
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巻 | 100巻
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号 | 13号
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出版者 | LIPPINCOTT WILLIAMS & WILKINS
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開始ページ | e25265
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ISSN | 0025-7974
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © 2021 the Author(s).
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論文のバージョン | publisher
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PubMed ID | |
NAID | |
DOI | |
Web of Science KeyUT | |
関連URL | isVersionOf https://doi.org/10.1097/MD.0000000000025265
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ライセンス | https://creativecommons.org/licenses/by/4.0/
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助成機関名 |
Japanese Association for Complement Research - Alexion GK
CSL Behring K. K.
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