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Chronic granulomatous disease

Nida Saleem1, Tahir Aziz Ahmed2, Mukarram Bashir1

  • 1Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi.

JPMA. the Journal of the Pakistan Medical Association
|December 30, 2015
PubMed

Insights

This case study highlights a rare inherited immune disorder, chronic granulomatous disease (CGD), where phagocytes cannot kill microbes. Diagnosis in an infant was confirmed by absent superoxide activity, indicating X-linked CGD.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency.
  • It impairs phagocyte function, specifically the generation of reactive oxygen species (ROS) essential for microbial killing.
  • This leads to recurrent, severe infections.

Observation:

  • An 8-month-old male presented with recurrent chest infections and perianal abscess unresponsive to antibiotics.
  • A family history revealed two deceased elder brothers with similar symptoms in infancy.
  • Four elder sisters were healthy, suggesting an X-linked inheritance pattern.

Findings:

  • Diagnostic tests, including the dihydrorhodamine (DHR) test and nitroblue tetrazolium (NBT) dye reduction assay, revealed a complete absence of superoxide activity in the patient's granulocytes.
  • This confirmed the diagnosis of chronic granulomatous disease.

Implications:

  • Early diagnosis and confirmation of CGD are crucial for timely management and genetic counseling.
  • This case underscores the importance of considering inherited disorders in infants with recurrent severe infections.
  • Understanding the genetic basis of CGD aids in identifying at-risk family members and implementing appropriate preventative strategies.
Keywords:
Chronic granulomatous disease, Perirectal abscess, Nitrotetrazolium, Dihydrorhodamine.

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