[Primary immunodeficiencies in seriously ill children: Report of 3 clinical cases]
Leticia Yáñez1, Pamela Lama1, Carolina Rivacoba1
1Unidad de Paciente Crítico Pediátrico, Clínica Santa María, Santiago, Chile.
Insights
Primary immunodeficiency diseases (PID) require prompt diagnosis in infants presenting with severe infections. Early suspicion and intervention are crucial for managing these congenital immune disorders.
Area of Science:
- Pediatric Immunology
- Clinical Genetics
- Infectious Diseases
Background:
- Primary immunodeficiency diseases (PID) are congenital disorders stemming from an impaired immune response.
- Commonly associated conditions include infections, autoimmune disorders, atopy, and lymphoproliferative syndromes.
Observation:
- This study presents three infant cases diagnosed with PID during their initial Paediatric Intensive Critical Care Unit admission.
- Case 1: A 4-month-old infant with severe pneumonia diagnosed with Severe Combined Immunodeficiency Disease.
- Case 2: An 8-month-old infant with Candida lusitaniae mesenteric adenitis diagnosed with Chronic Granulomatous Disease.
- Case 3: A 6-month-old infant with ecthyma gangrenosum diagnosed with X-linked Agammaglobulinaemia.
Findings:
- PID should be suspected in cases of infectious disease unresponsive to appropriate therapy within the expected timeframe.
- Detailed updates on Severe Combined Immunodeficiency Disease, Chronic Granulomatous Disease, and X-linked Agammaglobulinaemia are provided.
Implications:
- Highlights the importance of considering PID in infants with severe or refractory infections.
- Emphasizes the critical role of early diagnosis and intervention in improving outcomes for pediatric patients with primary immunodeficiencies.
Abstract:
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder.
Objective:
To present and discuss 3 infants diagnosed with PID.
Clinical Cases:
The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia.
Conclusion:
PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.
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