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

CD3 deficiencies.

Alain Fischer1, Geneviève de Saint Basile, Françoise Le Deist

  • 1Department of Pediatric Immuno-Hematology and Inserm Unit 429, Necker-Enfants Malades Hospital, Paris, France. alain.fischer@nck.ap-hop-paris.fr

Current Opinion in Allergy and Clinical Immunology
|November 3, 2005
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

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?

British journal of haematology·2026
Same author

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

Journal of human immunity·2026
Same author

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Nature communications·2026
Same author

Author Correction: Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.

Nature communications·2025
Same author

Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.

Journal of human immunity·2025
Same author

Lymphedema in patients with X-linked severe combined immunodeficiency.

The journal of allergy and clinical immunology. Global·2025
Same journal

Biosimilars in allergology: an outline in pediatric patients.

Current opinion in allergy and clinical immunology·2026
Same journal

The immunogenetic landscape of systemic lupus erythematosus.

Current opinion in allergy and clinical immunology·2026
Same journal

Circadian control of innate immunity: molecular mechanisms and implications for allergic disorders.

Current opinion in allergy and clinical immunology·2026
Same journal

Probiotics in allergic disease: from adjunct supplement to immune-modifying strategy (2026 update).

Current opinion in allergy and clinical immunology·2026
Same journal

Updates on drug-induced anaphylaxis in children.

Current opinion in allergy and clinical immunology·2026
Same journal

Beta-lactam de-labelling as a core antimicrobial stewardship strategy in the era of the antimicrobial resistance pandemic: a narrative review.

Current opinion in allergy and clinical immunology·2026
See all related articles

Mutations in CD3D and CD3E genes cause severe combined immunodeficiency by blocking T-cell development. CD3G deficiency results in a partial T-cell immunodeficiency, highlighting distinct CD3 subunit roles.

Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • Inherited T-cell immunodeficiencies offer insights into human T-cell development.
  • The T-cell receptor (TCR) complex, crucial for T-cell function, comprises CD3 subunits.

Purpose of the Study:

  • To review recent findings on deleterious mutations in genes encoding CD3 subunits.
  • To elucidate the role of CD3 subunits in T-lymphocyte development and associated immunodeficiencies.

Main Methods:

  • Literature review of recent studies on CD3 subunit gene mutations.
  • Analysis of clinical phenotypes and T-cell development defects in patients.

Main Results:

  • Homozygous mutations in CD3D or CD3E genes cause severe combined immunodeficiency (SCID) with a complete block in T-cell development.

Related Experiment Videos

  • T-cell development arrests at the double-negative to double-positive thymocyte transition.
  • CD3G deficiency leads to partial T-cell immunodeficiency, unlike CD3D/CD3E deficiencies.

    • Conclusions:

    • CD3D and CD3E deficiencies represent new causes of SCID.
    • Differential CD3 subunit deficiencies reveal distinct roles in T-lymphocyte development and immune function.