Pediatr Allergy Immunol. 2025 Nov;36(11):e70234. doi: 10.1111/pai.70234.
ABSTRACT
BACKGROUND: Patients with chronic granulomatous disease (CGD) can develop hemophagocytic lymphohistiocytosis (HLH), exacerbating mortality risk. Despite its clinical significance, data on HLH in CGD from international cohorts remain limited. This study aims to describe the occurrence of HLH in a cohort of patients with CGD, providing clinical insight into this association and emphasizing the need for early recognition and effective management.
METHODS: The records of 60 patients with CGD were reviewed. Those meeting the diagnostic criteria for HLH based on the HScore were included in the analysis. Both descriptive and inferential statistics were employed to evaluate the data.
RESULTS: Eleven patients (18.3%) fulfilled the HLH diagnostic criteria. The median interval between CGD genetic diagnosis and HLH onset was 36 months, with a median age at HLH diagnosis of 67 months. Infectious triggers were identified in eight cases, with Salmonella and Aspergillus species being the most common. One case involved an inflammatory trigger-multisystem inflammatory syndrome in children (MIS-C) following SARS-CoV-2 infection. Mortality was high: 72.7% of the patients with HLH died. No significant difference (p = .338) was observed between those who died after receiving only immunosuppressive therapy (n = 2) and those who received both intravenous immunoglobulin and immunosuppressive therapy (n = 6).
CONCLUSION: HLH in CGD is associated with a high mortality rate. Notably, MIS-C can present as an inflammatory trigger for HLH in this population. Careful evaluation of HLH parameters is recommended for all patients with CGD admitted with infection or inflammation to facilitate early diagnosis and guide management.
PMID:41174960 | DOI:10.1111/pai.70234
