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Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome

Ben Zion Garty1, Adit Ben-Baruch, Asaf Rolinsky

  • 1Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petah Tiqwa 49202, Israel. gartyb@clalit.org.il

European Journal of Pediatrics
|March 25, 2009
PubMed

Insights

A baby with a STAT3 mutation developed Pneumocystis jirovecii pneumonia, a rare infection linked to hyper-IgE syndrome. This case highlights P. jirovecii pneumonia as a potential early sign of this genetic immunodeficiency.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by elevated IgE levels.
  • Common infections in HIES include Staphylococcus aureus skin abscesses and recurrent pneumonia.
  • Genetic underpinnings of HIES are increasingly identified, impacting immune cell function.

Observation:

  • A 4-month-old infant with a family history of HIES presented with Pneumocystis jirovecii pneumonia (PJP).
  • The patient exhibited a low clinical score for HIES despite the family history.
  • Genetic analysis revealed a mutation in the STAT3 gene.

Findings:

  • Pneumocystis jirovecii pneumonia is identified as a potential opportunistic infection associated with hyper-IgE syndrome.
  • STAT3 mutations are confirmed as a cause of HIES, leading to diverse clinical presentations.
  • The study expands the spectrum of infections linked to STAT3-deficient HIES.

Implications:

  • P. jirovecii pneumonia should be considered in the differential diagnosis of infants with suspected HIES, especially with a STAT3 mutation.
  • Early genetic testing for STAT3 mutations can aid in diagnosing HIES, even with atypical presentations.
  • This finding underscores the importance of genetic diagnostics in primary immunodeficiencies and their associated infectious risks.

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