Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
May 2, 2026CureusOpen Access

Genetic Analysis of Patients With Common Variable Immunodeficiency Followed in the Pulmonology Department: A Report of Five Patients

View Full Paper
Ask AI
Bookmark
Share

Authors

LBLoubna BoumekratCentre Hospitalier Universitaire Hassan IIABAbir BouhamdiSidi Mohamed Ben Abdellah UniversityBEBadereddine ElmakhzanCentre Hospitalier Universitaire Hassan II

Discussion

Loading...

Member takes

Overview

Genetic analysis uncovers abnormalities in patients with common variable immunodeficiency, suggesting enhanced diagnostics.

Key Points

  • This study aims to analyze the genetic profiles of patients diagnosed with common variable immunodeficiency.
  • A targeted genetic panel was utilized based on the 2022 International Union of Immunological Societies classification.
  • Five patients with a phenotype compatible with CVID were evaluated.
  • Genetic abnormalities were identified through molecular genetic analysis.
  • A genetic abnormality was identified in 2 out of 5 patients (40%).
  • Variants in the NFKB1 gene and the CD3G and IL7R genes were detected in these patients.
  • No detectable genetic abnormalities were found in 3 out of 5 patients (60%).

Cite This Study

Boumekrat et al. (2026) studied this question.

synapsesocial.com/papers/69f593f271405d493affec30https://doi.org/10.7759/cureus.107885
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A knockout mouse resource for the biomedical research community2011 · 71 citations
  2. 2Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee2022 · 1,198 citations
  3. 3Common variable immunodeficiency disorders: division into distinct clinical phenotypes2008 · 843 citations
  4. 4Morbidity and mortality in common variable immune deficiency over 4 decades2011 · 855 citations
  5. 5Clinical, immunological, and genetic landscape of common variable immunodeficiency in Morocco: a nationwide multicenter study2025 · 7 citations