Case Report
  

Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report

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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IssueVol 22 No 6 (2023) QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/ijaai.v22i6.14648
Keywords
Chronic granulomatous disease Dihydrorhodamine 123 Immunologic deficiency syndromes Macrophage activation syndrome
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Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Liquidano-Perez E, Carmona Berrón M, Carrillo Nieto RI, Corcuera Delgado C, Blancas Galicia L, Scheffler Mendoza S. Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report. Iran J Allergy Asthma Immunol. 2023;22(6):600-603.