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

Two related cases of primary complement deficiency.

A Farhoudi1, N Bazargan, Z Pourpak

  • 1Department of Allergy and Clinical Immunology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Immunological Investigations
|November 8, 2003
PubMed
Summary

Two related patients with rare primary complement deficiencies highlight potential genetic links. One patient experienced recurrent meningitis due to C3 deficiency, while the other suffered from hereditary angioedema linked to low C1INH levels.

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

STSM 2025 & 2nd African Medical Writing Congress.

La Tunisie medicale·2026
Same author

Unveiling the hidden aggression: a rare case of uterine leiomyosarcoma and its diagnostic dilemmas.

Annals of medicine and surgery (2012)·2025
Same author

2022 TUNISIAN NATIONAL CONGRESS OF MEDICINE ABSTRACTS.

La Tunisie medicale·2023
Same author

Clinical features and bleeding risk factors of angiodysplasia lesions in a Tunisian population.

Revista de gastroenterologia de Mexico (English)·2023
Same author

Predictive factors of difficult biliary cannulation: An experience of a tunisian tertiary center.

Heliyon·2023
Same author

Comparison of clinicodemographic characteristics and pattern of vascular involvement in 126 patients with Takayasu arteritis: a report from Iran and Turkey.

Reumatismo·2022

Area of Science:

  • Immunology
  • Genetics

Background:

  • Primary complement deficiencies are rare genetic disorders affecting immune response.
  • These deficiencies can lead to increased susceptibility to infections and autoimmune conditions.

Observation:

  • A 41-year-old male with C3 deficiency presented with recurrent pneumococcal meningitis and glomerulonephritis.
  • A 40-year-old female, related to the first patient, exhibited hereditary angioedema with low C1INH and C4 levels, despite no family history.

Findings:

  • The male patient's C3 deficiency was confirmed by repeated low serum C3 levels, while other immunological tests were normal.
  • The female patient's low C1INH and C4 levels, alongside recurrent angioedema, suggest a potential genetic mutation causing hereditary angioedema.
  • The familial relationship between the patients suggests a possible genetic link between C3 deficiency and hereditary angioedema.

Related Experiment Videos

Implications:

  • These cases underscore the importance of early diagnosis and management of primary complement deficiencies.
  • Identifying a genetic relationship could advance understanding of complement system disorders and inform genetic counseling.
  • Further research into the genetic basis of these related conditions may reveal novel therapeutic targets.