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Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report
Eduardo Liquidano-Perez1, Mariana Carmona Berrón2, Rosa Itzel Carrillo Nieto3
1Immunology Service, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico. eduardoliquidano@gmail.com.
Insights
Chronic granulomatous disease (CGD) can manifest as secondary hemophagocytic lymphohistiocytosis (HLH). Early diagnosis of this rare presentation is crucial for timely treatment and carrier identification.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by granuloma formation and recurrent infections.
- CGD follows autosomal or X-linked recessive inheritance patterns.
- Secondary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome.
Observation:
- A 10-month-old infant presented with fatal secondary HLH as the primary manifestation of CGD.
- Autopsy revealed noncaseating granulomas, pulmonary aspergilloma, and hemophagocytosis.
- Dihydrorhodamine (DHR) assay on maternal relatives indicated an X-linked CGD inheritance pattern.
Findings:
- The patient was diagnosed with CGD complicated by macrophage activation syndrome (MAS), a form of secondary HLH.
- CGD results from phagocyte dysfunction, leading to impaired pathogen control and granuloma development.
- Secondary HLH involves excessive immune activation, characterized by macrophage and T-cell proliferation and cytokine release.
Implications:
- Early recognition of CGD presenting as secondary HLH is critical for initiating appropriate treatment.
- Identifying carriers through genetic studies aids in understanding CGD etiology and family counseling.
- This case highlights the diverse clinical spectrum of CGD and the importance of considering it in infants with unexplained HLH.
Abstract:
Chronic granulomatous disease (CGD) presents with granuloma formation and lethal infections. It is inherited in an autosomal or X-linked recessive pattern. We describe a 10-month-old patient with a fatal secondary HLH as a CGD primary manifestation. We carried out an autopsy and found noncaseating granulomas, an aspergilloma in the lung, and hemophagocytosis. We performed a DHR assay on the patient's mother and grandmother, showing a bimodal pattern conclusive of X-linked CGD. Thus, our definitive diagnosis was CGD complicated by macrophage activation syndrome. CGD is caused by phagocytes' inability to control pathogens, resulting in granulomas. Secondary HLH is a severe complication and could be characterized by the proliferation of macrophages and T lymphocytes and the production of proinflammatory cytokines. The early suspicion of this presentation helps establish a specific treatment, and the study of the carriers helps determine the etiology.
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