start-ver=1.4
cd-journal=joma
no-vol=100
cd-vols=
no-issue=13
article-no=
start-page=e25265
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=20210402
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants A case report
en-subtitle=
kn-subtitle=
en-abstract=
kn-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.
en-copyright=
kn-copyright=
en-aut-name=KageyamaMisaki
en-aut-sei=Kageyama
en-aut-mei=Misaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=
en-aut-name=HagiyaHideharu
en-aut-sei=Hagiya
en-aut-mei=Hideharu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=
en-aut-name=UedaYasutaka
en-aut-sei=Ueda
en-aut-mei=Yasutaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=
en-aut-name=OhtaniKatsuki
en-aut-sei=Ohtani
en-aut-mei=Katsuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=
en-aut-name=FukumoriYasuo
en-aut-sei=Fukumori
en-aut-mei=Yasuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=
en-aut-name=InoueNorimitsu
en-aut-sei=Inoue
en-aut-mei=Norimitsu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=
en-aut-name=WakamiyaNobutaka
en-aut-sei=Wakamiya
en-aut-mei=Nobutaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=
en-aut-name=YonedaNanoka
en-aut-sei=Yoneda
en-aut-mei=Nanoka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=
en-aut-name=KimuraKeigo
en-aut-sei=Kimura
en-aut-mei=Keigo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=
en-aut-name=NagasawaMotonori
en-aut-sei=Nagasawa
en-aut-mei=Motonori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=
en-aut-name=NakagamiFutoshi
en-aut-sei=Nakagami
en-aut-mei=Futoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=
en-aut-name=NishiIsao
en-aut-sei=Nishi
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=
en-aut-name=SugimotoKen
en-aut-sei=Sugimoto
en-aut-mei=Ken
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=
en-aut-name=RakugiHiromi
en-aut-sei=Rakugi
en-aut-mei=Hiromi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=
affil-num=1
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
affil-num=2
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
affil-num=3
en-affil=Department of Hematology and Oncology, Osaka University Hospital
kn-affil=
affil-num=4
en-affil=The Japanese Association for Complement Research
kn-affil=
affil-num=5
en-affil=Department of Molecular Genetics, Wakayama Medical University
kn-affil=
affil-num=6
en-affil=The Japanese Association for Complement Research
kn-affil=
affil-num=7
en-affil=The Japanese Association for Complement Research
kn-affil=
affil-num=8
en-affil=Laboratory for Clinical Investigation, Osaka University Hospital
kn-affil=
affil-num=9
en-affil=Laboratory for Clinical Investigation, Osaka University Hospital
kn-affil=
affil-num=10
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
affil-num=11
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
affil-num=12
en-affil=Laboratory for Clinical Investigation, Osaka University Hospital
kn-affil=
affil-num=13
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
affil-num=14
en-affil=Department of General Medicine, Osaka University Hospital
kn-affil=
en-keyword=complement addition test
kn-keyword=complement addition test
en-keyword=complement deficiency
kn-keyword=complement deficiency
en-keyword=disseminated gonococcal infection
kn-keyword=disseminated gonococcal infection
en-keyword=genome analysis
kn-keyword=genome analysis
en-keyword=Neisseria gonorrhoeae
kn-keyword=Neisseria gonorrhoeae
en-keyword=sexually transmitted infection
kn-keyword=sexually transmitted infection
END