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

Agammaglobulinaemia

J W van der Meer1, B J Zegers

  • 1Department of Internal Medicine, Nijmegen University Hospital, Netherlands.

The Netherlands Journal of Medicine
|December 1, 1994
PubMed
Summary
This summary is machine-generated.

Agammaglobulinaemia, a primary immunodeficiency, involves recurrent infections and non-infectious conditions. Immunoglobulin substitution therapy significantly improves patient prognosis and prevents life-threatening bacterial infections.

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

Serum IgG subclasses levels in paediatric patients with pneumonia.

The Central African journal of medicine·2002
Same author

Serum immunoglobulin levels in paediatric patients with pneumonia.

The Central African journal of medicine·2000
Same author

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.

Human mutation·2000
Same author

Revised exon-intron structure of human JAK3 locus.

European journal of human genetics : EJHG·1999
Same author

Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia.

Journal of clinical immunology·1999
Same author

Pneumococcal conjugate vaccine primes for polysaccharide-inducible IgG2 antibody response in children with recurrent otitis media acuta.

The Journal of infectious diseases·1999
Same journal

A diagnostic tool for self-poisoned patients: Analysis of gastric content and lavage fluids.

The Netherlands journal of medicine·2020
Same journal

Answer to Photoquiz A bone disorder with skin lesions.

The Netherlands journal of medicine·2020
Same journal

A bone disorder with skin lesions.

The Netherlands journal of medicine·2020
Same journal

Answer to Photoquiz A fascinating liver abscess.

The Netherlands journal of medicine·2020
Same journal

A fascinating liver abscess.

The Netherlands journal of medicine·2020
Same journal

Answer to Photoquiz A polyposis syndrome.

The Netherlands journal of medicine·2020
See all related articles

Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Agammaglobulinaemia is the most common primary immunodeficiency, with distinct subtypes including X-linked, early-onset, and late-onset forms.
  • X-linked agammaglobulinaemia has a known molecular defect, making genetic counseling and diagnostics crucial.
  • Early- and late-onset agammaglobulinaemia exhibit heterogeneous pathogenesis, often not involving the B-cell lineage.

Purpose of the Study:

  • To review the clinical manifestations, pathogenesis, and management of agammaglobulinaemia.
  • To highlight the importance of immunoglobulin substitution in preventing infections and improving outcomes.
  • To discuss non-infectious complications associated with agammaglobulinaemia.

Main Methods:

  • Literature review of primary immunodeficiencies, focusing on agammaglobulinaemia.

Related Experiment Videos

  • Analysis of infection patterns and non-infectious comorbidities in different agammaglobulinaemia types.
  • Evaluation of immunoglobulin substitution therapy, including intravenous and subcutaneous routes.

    • Main Results:

    • Patients commonly experience infections from encapsulated bacteria (e.g., pneumococci, Haemophilus influenzae) and gastrointestinal pathogens (e.g., Campylobacter jejuni, Giardia lamblia).
    • Non-infectious complications, such as gastric carcinoma, intestinal lymphoma, and colorectal cancer, are significant concerns, particularly in late-onset and X-linked forms.
    • Life-threatening bacterial infections are largely preventable with immunoglobulin substitution, though insufficient therapy leads to recurrent infections and lung damage.

    Conclusions:

    • Optimal immunoglobulin substitution, alongside appropriate antimicrobial treatment, offers a good prognosis for patients with agammaglobulinaemia.
    • Intravenous and subcutaneous immunoglobulin preparations are effective and safe for managing agammaglobulinaemia.
    • Understanding the diverse manifestations and management strategies is crucial for improving patient care.