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Pediatric patients with common variable immunodeficiency: long-term follow-up
P Mohammadinejad1, A Aghamohammadi, H Abolhassani
1Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Common variable immunodeficiency (CVID) in children presents with diverse clinical phenotypes, including infections, autoimmunity, and malignancy. Early diagnosis is crucial, as 10-year survival reaches 71% post-diagnosis.
Area of Science:
- Pediatric Immunology
- Clinical Genetics
Background:
- Common variable immunodeficiency (CVID) is a primary immunodeficiency disease.
- CVID is characterized by hypogammaglobulinemia, leading to infections, autoimmunity, and cancer.
Purpose of the Study:
- Evaluate clinical and immunological features in pediatric CVID patients.
- Characterize CVID phenotypes in a pediatric cohort.
Main Methods:
- Retrospective analysis of 69 pediatric CVID patients.
- Follow-up for a mean of 5.2 years.
- Classification into five clinical phenotypes.
Main Results:
- Mean diagnostic delay was 4.4 years, shorter in recent diagnoses.
- Clinical phenotypes included infections (n=39), lymphocytic infiltration (n=17), autoimmunity (n=12), malignancy (n=7), and enteropathy (n=3).
- 10-year post-diagnosis survival was 71%.
Conclusions:
- High CVID prevalence in Iranian pediatric patients may relate to consanguinity and genetics.
- Understanding CVID phenotypes is vital for management.
- Further research into genetic factors is warranted.
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