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Region Hovedstaden - en del af Københavns Universitetshospital
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Primary complement C5 deficiencies - Molecular characterization and clinical review of two families

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Expression of complement C3, C5, C3aR and C5aR1 genes in resting and activated CD4+ T cells

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Reconstitution of Th17, Tc17 and Treg cells after paediatric haematopoietic stem cell transplantation: Impact of interleukin-7

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Alveolar recruitment of ficolin-3 in response to acute pulmonary inflammation in humans

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Shiga Toxin 2a Binds to Complement Components C3b and C5 and Upregulates Their Gene Expression in Human Cell Lines

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Lectin complement pathway initiators after subarachnoid hemorrhage - an observational study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Soluble collectin-12 mediates C3-independent docking of properdin that activates the alternative pathway of complement

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Local complement activation is associated with primary graft dysfunction after lung transplantation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Complement Activation and Thrombin Generation by MBL Bound to β2-Glycoprotein I

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
Inherited deficiency states of the terminal complement component C5 are rare and often associated with increased risk of recurrent Neisseria infections. More than 50 cases with primary C5 deficiency have been reported. In spite of this, the molecular basis has only been documented in a few cases. In the present study we investigated two unrelated Caucasian probands with C5 deficiency originating from Norway and Denmark, respectively, and found three previously undescribed mutations. With these data, thirteen mutations associated with C5 deficiency have been described. By genetic screening of the family of the Norwegian patient, previously diagnosed as homozygous C5 deficient and suffering four Neisseria infections, an additional case of C5 deficiency was discovered, who had experienced one episode of Neisseria infections. Detailed review of the clinical history of the patients and their healthy relatives did not reveal any differences between C5 deficient and sufficient individuals with regard to clinical presentation, apart from the susceptibility to Neisseria infections. Of note, one of the patients described here, and several C5 deficient patients from the literature had Neisseria meningitidis serotype B infections, which is not covered by the current vaccines. These data support the clinical guidelines for patients treated with C5 inhibitors, who are functional C5 deficient by the treatment.
OriginalsprogEngelsk
TidsskriftImmunobiology
Vol/bind218
Udgave nummer10
Sider (fra-til)1304-10
Antal sider7
ISSN0171-2985
DOI
StatusUdgivet - okt. 2013

ID: 39017517