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

Eduardo  Liquidano-Perez; Mariana Carmona  Berrón; Rosa Itzel Carrillo Nieto; Celso Tomás Corcuera Delgado; Lizbeth Blancas Galicia; Selma Cecilia Scheffler Mendoza

doi:10.18502/ijaai.v22i6.14648

Eduardo Liquidano-Perez Immunology Service, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico
Mariana Carmona Berrón Immunology Service, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico
Rosa Itzel Carrillo Nieto Immunology Service, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico
Celso Tomás Corcuera Delgado Pathology Department, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico
Lizbeth Blancas Galicia Immunodeficiencies Unit, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico
Selma Cecilia Scheffler Mendoza Immunology Service, National Institute of Pediatrics, Secretariat of Health Mexico, Mexico City, Mexico

DOI: https://doi.org/10.18502/ijaai.v22i6.14648

Keywords: Chronic granulomatous disease; Dihydrorhodamine 123; Immunologic deficiency syndromes; Macrophage activation syndrome

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.