Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report.
Iran J Allergy Asthma Immunol
; 22(6): 600-603, 2023 Dec 28.
Article
em En
| MEDLINE
| ID: mdl-38477956
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfo-Histiocitose Hemofagocítica
/
Síndrome de Ativação Macrofágica
/
Doença Granulomatosa Crônica
Limite:
Humans
/
Infant
Idioma:
En
Revista:
Iran J Allergy Asthma Immunol
Assunto da revista:
ALERGIA E IMUNOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
México