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A 5-month-old boy with recurrent respiratory infections, failure to thrive, and borderline elevated sweat chloride

Helen C Wang1, Meg A Whelan, Stephen J McGeady

  • 1Division of Allergy and Immunology, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, Delaware 19803, USA.

Allergy and Asthma Proceedings
|August 18, 2006
PubMed

Insights

Severe combined immunodeficiency (SCID) and cystic fibrosis (CF) share symptoms like respiratory infections. A case highlights how genetic testing clarified a SCID diagnosis despite borderline sweat chloride tests, crucial for infant survival.

Area of Science:

  • Pediatrics
  • Immunology
  • Genetics

Background:

  • Severe combined immunodeficiency (SCID) and cystic fibrosis (CF) can present with similar infantile symptoms, including recurrent respiratory infections and failure to thrive.
  • Elevated sweat chloride levels are diagnostic for CF, but transient elevations can occur in other conditions like antibody deficiencies.

Observation:

  • A 5-month-old boy exhibited recurrent respiratory infections, failure to thrive, and borderline elevated sweat chloride tests.
  • Initial suspicion of CF was based on borderline sweat tests and Pseudomonas isolation, but further investigation was warranted.

Findings:

  • Genetic analysis revealed a mutation in the IL-2 receptor gamma-chain gene, confirming SCID.
  • Negative cystic fibrosis genetic mutation analysis ruled out CF as the primary diagnosis.

Implications:

  • Early diagnosis of SCID is critical, as untreated infants typically succumb to infection in infancy.
  • Prompt diagnosis and immune system reconstitution offer a favorable prognosis for SCID patients, transforming a fatal condition.

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