Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report

Misaki Kageyama, Hideharu Hagiya, Yasutaka Ueda, Katsuki Ohtani, Yasuo Fukumori, Norimitsu Inoue, Nobutaka Wakamiya, Nanoka Yoneda, Keigo Kimura, Motonori Nagasawa, Futoshi Nakagami, Isao Nishi, Ken Sugimoto, Hiromi Rakugi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)e25265
JournalMedicine
Volume100
Issue number13
DOIs
Publication statusPublished - Apr 2 2021

ASJC Scopus subject areas

  • Medicine(all)

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