ArticleJournal of clinical immunology2018
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
Article in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 31 citations in OpenAlex.
- Systems genetics analysis reveals immune mediators of coronavirus disease severity in mice.Genetics · 2026Article
- Human type I interferons protect Vero E6 and ARPE-19 cells against West Nile virus and are neutralized by pathogenic autoantibodies.Scientific reports · 2025Article
- DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia.Journal of clinical immunology · 2025Article
- Role of the pioneer transcription factor GATA2 in health and disease.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients.The Journal of experimental medicine · 2023Article
- Review
- Genetic Predisposition and the Variable Course of Infectious Diseases.Deutsches Arzteblatt international · 2022Review
- Mechanisms of viral inflammation and disease in humans.Science (New York, N.Y.) · 2021Review
- A natural variant in ANP32B impairs influenza virus replication in human cells.The Journal of general virology · 2021Article
- X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.Science immunology · 2021Observational
- Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.Journal of clinical immunology · 2021Article
- Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.The Journal of allergy and clinical immunology · 2021Article
- Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.Annual review of pathology · 2021Review
- Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.Infection and drug resistance · 2021Article
- Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome.BMJ case reports · 2020Article
- Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.Leukemia · 2020Article
- Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.Best practice & research. Clinical haematology · 2020Review
- Mx genes: host determinants controlling influenza virus infection and trans-species transmission.Human genetics · 2020Review
- Regulatory genome variants in human susceptibility to infection.Human genetics · 2020Review
- Human genetics of life-threatening influenza pneumonitis.Human genetics · 2020Review
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Authors and funding
25 authors at 11 institutions in 3 countries.
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Abstract
The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2). A daughter of P1 had died at 20 years from infectious complications. Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2. Patients were heterozygous for a novel, hypomorphic, R396L mutation leading to haplo-insufficiency. B- and T-cell rearrangement in peripheral blood from P1 during the influenza episode showed expansion of one major clone. No T-cell receptor excision circles were detected in P1 and P3 since they were 35 and 18 years, respectively. Both patients presented an exuberant, interferon (IFN)-γ-mediated hypercytokinemia during H1N1pdm infection. No data about patients with viremia was available. Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. However, a role of other genetic variants involved in immune responses cannot be ruled out. Patients with GATA2 deficiency can reach young adulthood without severe infections, including influenza, despite long-lasting complete B-cell and natural killer (NK) cell deficiency, as well as profoundly diminished T-cell thymic output.
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