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Complement component 7 deficiency(C7D)

MedGen UID:
355270
•Concept ID:
C1864694
•
Disease or Syndrome
Synonyms: C7 DEFICIENCY; C7D
 
Gene (location): C7 (5p13.1)
 
Monarch Initiative: MONDO:0012412
OMIM®: 610102

Definition

Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis (Nishizaka et al., 1996). [from OMIM]

Clinical features

From HPO
Recurrent meningococcal disease
MedGen UID:
369692
•Concept ID:
C1970263
•
Finding
Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
See: Feature record | Search on this feature
Recurrent Neisserial infections
MedGen UID:
462433
•Concept ID:
C3151083
•
Finding
Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).
See: Feature record | Search on this feature
Decreased circulating complement C7 concentration
MedGen UID:
1762662
•Concept ID:
C5421782
•
Finding
Concentration of the complement component C7 in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.
Khalil SM, Aqel S, Mudawi DS, Mobayed H, Al-Nesf MA
Front Immunol 2023;14:1253301. Epub 2023 Oct 11 doi: 10.3389/fimmu.2023.1253301. PMID: 37885879Free PMC Article
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Balduit A, Bianco AM, Mangogna A, Zicari AM, Leonardi L, Cinicola BL, Capponi M, Tommasini A, Agostinis C, d'Adamo AP, Bulla R
Front Immunol 2023;14:1192690. Epub 2023 May 25 doi: 10.3389/fimmu.2023.1192690. PMID: 37304269Free PMC Article

Diagnosis

Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report.
Kageyama M, Hagiya H, Ueda Y, Ohtani K, Fukumori Y, Inoue N, Wakamiya N, Yoneda N, Kimura K, Nagasawa M, Nakagami F, Nishi I, Sugimoto K, Rakugi H
Medicine (Baltimore) 2021 Apr 2;100(13):e25265. doi: 10.1097/MD.0000000000025265. PMID: 33787610Free PMC Article
Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response.
Keiser PB, Broderick M
Hum Vaccin Immunother 2012 May;8(5):582-6. Epub 2012 May 1 doi: 10.4161/hv.19517. PMID: 22634438

Therapy

Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response.
Keiser PB, Broderick M
Hum Vaccin Immunother 2012 May;8(5):582-6. Epub 2012 May 1 doi: 10.4161/hv.19517. PMID: 22634438

Prognosis

The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.
Khalil SM, Aqel S, Mudawi DS, Mobayed H, Al-Nesf MA
Front Immunol 2023;14:1253301. Epub 2023 Oct 11 doi: 10.3389/fimmu.2023.1253301. PMID: 37885879Free PMC Article
Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response.
Keiser PB, Broderick M
Hum Vaccin Immunother 2012 May;8(5):582-6. Epub 2012 May 1 doi: 10.4161/hv.19517. PMID: 22634438

Clinical prediction guides

The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.
Khalil SM, Aqel S, Mudawi DS, Mobayed H, Al-Nesf MA
Front Immunol 2023;14:1253301. Epub 2023 Oct 11 doi: 10.3389/fimmu.2023.1253301. PMID: 37885879Free PMC Article

Recent systematic reviews

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
Balduit A, Bianco AM, Mangogna A, Zicari AM, Leonardi L, Cinicola BL, Capponi M, Tommasini A, Agostinis C, d'Adamo AP, Bulla R
Front Immunol 2023;14:1192690. Epub 2023 May 25 doi: 10.3389/fimmu.2023.1192690. PMID: 37304269Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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