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

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance.

P Ahonen

    Clinical Genetics
    |June 1, 1985
    PubMed
    Summary

    Genetic analysis of Autoimmune Polyendocrinopathy-Candidosis-Ectodermal Dystrophy (APECED) suggests autosomal recessive inheritance. This rare genetic disorder is prevalent in isolated Finnish populations.

    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

    Brain histamine in experimental acute liver failure: effects of L-histidine loading.

    Inflammation research : official journal of the European Histamine Research Society ... [et al.]·2004
    Same author

    [Difficulties in cleaning molar teeth in patient with type 2 diabetes and enalapril medication].

    Duodecim; laaketieteellinen aikakauskirja·1997
    Same author

    Contiguous enlarged dental follicles with histologic features resembling the WHO type of odontogenic fibroma.

    Oral surgery, oral medicine, and oral pathology·1990
    Same author

    Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

    The New England journal of medicine·1990
    Same author

    The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR.

    The Journal of clinical endocrinology and metabolism·1988
    Same author

    Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure.

    The Journal of clinical endocrinology and metabolism·1987

    Area of Science:

    • Human Genetics
    • Immunology
    • Endocrinology

    Background:

    • Autoimmune Polyendocrinopathy-Candidosis-Ectodermal Dystrophy (APECED) is a rare autoimmune disorder.
    • APECED presents with hypoparathyroidism, adrenocortical failure, and chronic candidosis, with variable expressivity.
    • Other manifestations include endocrine deficiencies and ectodermal dystrophy.

    Purpose of the Study:

    • To investigate the genetic basis of APECED.
    • To determine the mode of inheritance for APECED.
    • To identify the prevalence and distribution of APECED in specific populations.

    Main Methods:

    • Conducted a genetic analysis of 58 patients and 42 families with APECED.
    • Calculated the proportion of affected siblings using various ascertainment corrections.

    Related Experiment Videos

  • Analyzed the male/female ratio and screened for heterozygous manifestations.

    • Main Results:

    • Sibling recurrence risks were consistent with autosomal recessive inheritance.
    • The male/female ratio was approximately 1:1 (1.04).
    • No heterozygous carriers showed clinical manifestations of the disease.

    Conclusions:

    • APECED is inherited in an autosomal recessive pattern.
    • The gene responsible for APECED is concentrated in isolated Finnish subpopulations.
    • APECED is a significant component of Finland's genetic disease heritage.