Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Selective deficiencies in complement component : a family with hereditary C2 deficiency

M Dantant, C Rivat, D Gilbert

    Biomedicine / [Publiee Pour L'A.A.I.C.I.G.]
    |May 1, 1978
    PubMed
    Summary

    This study details a new case of complement component 2 (C2) deficiency in a patient with systemic lupus erythematosus. The C2 deficiency gene was found to be inherited with specific HLA haplotypes, a novel association.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Embryo mortality in a captive-bred, Critically Endangered amphibian.

    Diseases of aquatic organisms·2022
    Same author

    Author Correction: Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

    Nature medicine·2022
    Same author

    Search for Flavor-Changing Neutral Current Interactions of the Top Quark and Higgs Boson in Final States with Two Photons in Proton-Proton Collisions at sqrt[s]=13  TeV.

    Physical review letters·2022
    Same author

    Search for Resonances Decaying to Three W Bosons in Proton-Proton Collisions at sqrt[s]=13  TeV.

    Physical review letters·2022
    Same author

    Probing Charm Quark Dynamics via Multiparticle Correlations in Pb-Pb Collisions at sqrt[s_{NN}]=5.02  TeV.

    Physical review letters·2022
    Same author

    First Search for Exclusive Diphoton Production at High Mass with Tagged Protons in Proton-Proton Collisions at sqrt[s]=13  TeV.

    Physical review letters·2022

    Area of Science:

    • Immunogenetics
    • Complement System Biology

    Background:

    • Complement component 2 (C2) deficiency is a rare genetic disorder.
    • Systemic lupus erythematosus (SLE) is an autoimmune disease.
    • The complement system plays a crucial role in immune responses and SLE pathogenesis.

    Observation:

    • A novel case of C2 deficiency was identified in a patient diagnosed with systemic lupus.
    • The patient and one asymptomatic sibling were homozygous for C2 deficiency.
    • Other family members were heterozygous for C2 deficiency.

    Findings:

    • The gene for C2 deficiency (C2d) demonstrated co-inheritance with HLA-A9, B7/Bfs and HLA-A10, B27/Bfs haplotypes.
    • This specific association between C2 deficiency and these HLA haplotypes has not been previously reported in scientific literature.

    Related Experiment Videos

    Implications:

    • This finding suggests a potential genetic linkage between C2 deficiency and specific HLA haplotypes.
    • Understanding this association may offer new insights into the genetic underpinnings of SLE.
    • Further research could explore the functional consequences of this linkage on immune regulation and disease susceptibility.