ArticleFrontiers in immunology2022
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- Complexities in the Diagnostic Evaluation and Treatment of Infant Hemophagocytic Lymphohistiocytosis.Hematology reports · 2026Article
- A Review of Adenosine Deaminase 2 (ADA2) as a Biomarker of Monocyte/Macrophage Activation.Current allergy and asthma reports · 2026Review
- Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report.Frontiers in pediatrics · 2026Article
- Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.The Journal of experimental medicine · 2025Article
- Adult Hemophagocytic Lymphohistiocytosis (HLH) with Neurological Involvement: Diagnostic Complexities - A Case Report and Literature Review.The American journal of case reports · 2025Review
- Deep insight into cytokine storm: from pathogenesis to treatment.Signal transduction and targeted therapy · 2025Review
- Sequential central retinal artery occlusion in two brothers: a fight to prevent blindness.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Mimics and challenging presentations of DADA2.Clinical and experimental immunology · 2025Review
- Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.Frontiers in immunology · 2025Article
- A fatal course of hemophagocytic lymphohistiocytosis in a child with homozygous ERCC6L2 defect and heterozygous ADA2 variant: a case report.Frontiers in immunology · 2025Article
- Human ADA2 Deficiency: Ten Years Later.Current allergy and asthma reports · 2024Review
- Macrophage Activation Syndrome in Viral Sepsis.Viruses · 2024Review
- Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity.Immunological reviews · 2024Review
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Authors and funding
12 authors.
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Abstract
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including systemic vasculitis, immunodeficiency, and cytopenia. We report a case of a 16-year-old girl affected by recurrent viral infections [including cytomegalovirus (CMV)-related hepatitis and measles vaccine virus-associated manifestations] and persistent inflammation, which occurred after Parvovirus infection and complicated by secondary hemophagocytic lymphohistiocytosis (HLH). HLH's first episode presented at 6 years of age and was preceded by persistent fever and arthralgia with evidence of Parvovirus B19 infection. The episode responded to intravenous steroids but relapsed during steroids tapering. High-dose intravenous immunoglobulin (IVIG) helped manage her clinical symptoms and systemic inflammation. The frequency of IVIG administration and the dosage were progressively reduced. At the age of 9, she experienced varicella zoster virus (VZV) reactivation followed by the recurrence of the inflammatory phenotype complicated by HLH with neurological involvement. Again, high-dose steroids and monthly IVIG resulted in a quick response. Targeted next-generation sequencing (NGS) for autoinflammatory diseases and immunodeficiencies revealed the homozygous Leu183Pro ADA2 mutation, which was confirmed by Sanger analysis. ADA2 enzymatic test showed a complete loss of ADA2 activity. For about 3 years, IVIG alone was completely effective in preventing flares of inflammation and neurological manifestations. Anti-TNF treatment was started at the age of 13 for the appearance of recurrent genital ulcers, with a complete response. This case further expands the clinical spectrum of DADA2 and emphasizes the importance of extensive genetic testing in clinical phenotypes characterized by persistent unspecific inflammatory syndromes. The use of high doses of IVIG might represent a possible effective immune modulator, especially in combination with anti-TNF treatment.
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