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Related Experiment Video

Updated: Mar 28, 2026

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis

Published on: February 8, 2019

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

Summary

This summary is machine-generated.

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.

Keywords:

Chronic granulomatous disease, Perirectal abscess, Nitrotetrazolium, Dihydrorhodamine.

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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.