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Related Experiment Video

Updated: Apr 7, 2026

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

Shreya Agarwal1

  • 1Medical officer and Researcher, Dr Yewale's Multispeciality Hospital for Children , Navi Mumbai, India .

Journal of Clinical and Diagnostic Research : JCDR
|July 9, 2015
PubMed
Summary
This summary is machine-generated.

Chronic Granulomatous Disease (CGD) is a rare inherited immunodeficiency. This case highlights CGD presenting in a neonate with infections and granulomas, emphasizing early diagnosis for better outcomes.

Keywords:
Immunodeficiency disordersMultiple granulomasNADPH oxidase deficiencyNeonates

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Area of Science:

  • Immunology
  • Pediatric Medicine
  • Genetics

Background:

  • Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency due to defective NADPH oxidase in phagocytes.
  • It typically causes recurrent infections and granuloma formation, usually presenting in early childhood.
  • Neonatal presentation of CGD is uncommon.

Observation:

  • A 40-day-old male infant presented with a pustular rash and feeding refusal, unresponsive to antibiotics.
  • Imaging revealed multiple lesions suggestive of granulomas or abscesses in the chest and abdomen.
  • Diagnostic workup included a negative Nitroblue Tetrazolium test and a positive Dihydrorhodamine flow cytometry test.

Findings:

  • The patient was diagnosed with Chronic Granulomatous Disease (CGD) based on clinical presentation and diagnostic tests.
  • The diagnostic workup confirmed CGD despite the unusual early onset.
  • The infant received appropriate treatment for CGD.

Implications:

  • This case underscores the importance of considering CGD in neonates with unexplained granulomas or abscesses.
  • Early diagnosis and prompt treatment are crucial for improving the prognosis of CGD.
  • Highlights the need for comprehensive immunodeficiency workup in neonates with severe, recurrent infections.