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Pneumococcal vaccine failure: can it be a primary immunodeficiency?
Rita Moinho1, Ana Brett1, Gisela Ferreira2
1Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de coimbra, Coimbra, Portugal.
BMJ Case Reports
|June 14, 2014
Summary
Vaccine failure in a vaccinated child led to diagnosing X-linked dyskeratosis congenita, a rare genetic disorder causing bone marrow failure and immunodeficiency. Early detection is crucial for managing complications like aplastic anemia and cancer.
Area of Science:
- Pediatrics
- Immunology
- Genetics
Background:
- Investigating primary immunodeficiency after vaccine failure is controversial.
- X-linked dyskeratosis congenita (X-DC) is a rare inherited disorder affecting telomere length.
- X-DC can lead to bone marrow failure, immunodeficiency, and cancer predisposition.
Observation:
- A 4-year-old boy with complete antipneumococcal vaccination experienced necrotizing pneumonia and pancytopenia.
- Blood cultures isolated a vaccine-serotype Streptococcus pneumoniae.
- Detailed investigations revealed X-linked dyskeratosis congenita.
Findings:
- Dyskeratosis congenita is characterized by telomere shortening, impacting rapidly dividing cells.
- The condition manifests as bone marrow failure and combined immunodeficiency.
- Patients are at increased risk for malignancies.
Implications:
- Diagnosing X-DC enables genetic counseling for affected families.
- Medical monitoring can detect early complications like bone marrow aplasia.
- Timely intervention improves management of X-DC patients and their associated risks.
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