Hemophagocytic lymphohistiocytosis associated with inborn error of immunity in children: A case report
Main Article Content
Abstract
Hemophagocytic Lymphohistiocytosis (HLH) is a severe form of immune dysregulation often presenting as prolonged fever, cytopenia, hepatosplenomegaly, coagulopathy, and elevation of typical HLH biomarkers. If left untreated, HLH is universally fatal. Its incidence is notably higher in children with inborn error of immunity. We reported a case of a 34-months-old girl admitted due to persistent fever and hepatosplenomegaly. A complete blood count showed neutropenia, elevated serum ferritin levels, and bone marrow aspiration revealed hemophagocytosis. An Epstein-Barr virus load of 2x105 copies/ml was also detected. Whole exom sequencing identified a compound heterozygous c.6019dup (p.Tyr2007LeufsTer12) and c.5224-2A>G mutation in the DOCK8 gene, which is associated with Hyper-IgE syndrome. Based on the HLH-2004 criteria, she was diagnosed with secondary HLH associated with Hyper-IgE. The child responded well to chemotherapy protocol and immunoglobulin replacement therapy. This case underscores the importance of screening for inborn error of immunity with secondary HLH to facilitate timely diagnosis and treatment.
Article Details
Keywords
DOCK8, Epstein- Barr virus, hemophagocytic lymphohistiocytosis, inborn error of immunity, hyper IgE syndrome
References
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