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

Hereditary C6 deficiency in man

M M Frank, J P Leddy, T Gaither

    Birth Defects Original Article Series
    |January 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    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

    Complement activation.

    Immunology today·2014
    Same author

    Drug interactions affecting the efficacy of corticosteroid therapy a brief review with an illustrative case.

    Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases·2008
    Same author

    Wild-type adenoviruses from groups A-F evoke unique innate immune responses, of which HAd3 and SAd23 are partially complement dependent.

    Gene therapy·2008
    Same author

    Recombinant adenovirus vectors activate the alternative complement pathway, leading to the binding of human complement protein C3 independent of anti-ad antibodies.

    Molecular therapy : the journal of the American Society of Gene Therapy·2004
    Same author

    Complement activation influences Staphylococcus aureus adherence to endothelial cells.

    Infection and immunity·2003
    Same author

    Availability of complement bound to Staphylococcus aureus to interact with membrane complement receptors influences efficiency of phagocytosis.

    Infection and immunity·2003

    This study identifies the first human kindred with complement component 6 (C6) deficiency, a condition inherited in an autosomal pattern. Homozygous C6 deficiency in humans does not impair chemotaxis or coagulation.

    Area of Science:

    • Immunology
    • Genetics
    • Complement System

    Background:

    • The complement system is crucial for innate and adaptive immunity.
    • Complement component 6 (C6) is essential for the formation of the membrane attack complex (MAC).
    • Deficiencies in complement components can lead to increased susceptibility to infections and autoimmune diseases.

    Purpose of the Study:

    • To characterize a novel case of complement component 6 (C6) deficiency in a human.
    • To investigate the inheritance pattern and functional consequences of C6 deficiency in a human kindred.
    • To compare C6 deficiency in humans with previously studied animal models.

    Main Methods:

    • Serum CH50 titrations and functional assays for all complement components.
    • Detection of C6 deficiency using functional assays and antigenic analysis with monospecific anti-C6 antibody.

    Related Experiment Videos

  • Assessment of bactericidal activity, neutrophil chemotaxis, immune adherence, and PNH red cell lysis.
  • Genetic analysis of the affected kindred to determine inheritance patterns.

    • Main Results:

    • A 18-year-old female presented with undetectable C6 levels in serum and plasma.
    • Hemolytic activity was restored upon addition of purified C6.
    • Parents and 5 out of 6 siblings exhibited approximately half-normal C6 levels, indicating autosomal inheritance.
    • The C6-deficient individual showed absent bactericidal activity and PNH red cell lysis but normal chemotaxis and coagulation functions.

    Conclusions:

    • This study documents the first human kindred with complement component 6 (C6) deficiency.
    • C6 deficiency in humans follows a classic Mendelian autosomal inheritance pattern.
    • Unlike C6-deficient rabbits, homozygous C6 deficiency in humans does not affect chemotactic or coagulation functions.