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

Syndromes associated with immunodeficiency.

J E Ming1, E R Stiehm, J M Graham

  • 1Division of Human Genetics and Molecular Biology, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, USA.

Advances in Pediatrics
|January 25, 2000
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

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

Journal of medical genetics·2005
Same author

Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities.

Neuroscience·2002
Same author

Breast milk transmission of viral disease.

Advances in nutritional research·2002
Same author

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

American journal of medical genetics·2001
Same author

Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome.

The Journal of rheumatology·2001
Same author

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

Human genetics·2001
Same journal

Two Steps Forward-One Step Back: Keeping Pace with Advances.

Advances in pediatrics·2025
Same journal

Pediatric Lymphadenopathy.

Advances in pediatrics·2025
Same journal

Vascular and Gastrointestinal Access in Children.

Advances in pediatrics·2025
Same journal

The Ouchless Pediatric Emergency Department.

Advances in pediatrics·2025
Same journal

Seizures and Shaking in Newborns and Babies.

Advances in pediatrics·2025
Same journal

Procalcitonin in Pediatric Emergency Medicine.

Advances in pediatrics·2025
See all related articles

Genetic factors underlie many immunodeficiencies. This review details 105 syndromes with immune defects, aiding diagnosis and understanding of genes critical for system development.

Area of Science:

  • Immunology
  • Genetics
  • Syndromology

Background:

  • Immunodeficiency frequently has a genetic origin.
  • Primary immunodeficiency disorders predominantly manifest immune defects.
  • Immune defects are also observed in numerous other recognized syndromes.

Purpose of the Study:

  • To review clinical manifestations of syndromes associated with immune defects.
  • To delineate the specific immune defects present in these syndromes.
  • To highlight the connection between immune system anomalies and other organ system dysfunctions.

Main Methods:

  • Literature review of syndromes associated with immunodeficiency.
  • Categorization of associated abnormalities (e.g., growth deficiency, organ dysfunction, metabolic errors, chromosomal anomalies).

Related Experiment Videos

  • Analysis of the prevalence of immune defects within these syndromes.

    • Main Results:

    • Identified 45 recognized primary immunodeficiency disorders.
    • Documented immunodeficiency in 105 additional syndromes.
    • Observed immune defects in a portion of patients for most disorders, but in the vast majority for 49 syndromes.

    Conclusions:

    • Recognition of syndromes with combined immune and other organ system involvement is crucial for diagnosis and management.
    • Understanding these conditions can provide insights into genes vital for system development.
    • The underlying mechanisms linking immune defects and other anomalies remain largely unclear for most syndromes.