1. Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC.
- Author
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Mardahl M, Jørgensen SE, Schneider A, Raaschou-Jensen K, Holm M, Veirum J, Kristensen TK, Johansen IS, Christiansen M, Assing K, and Mogensen TH
- Subjects
- Adult, Child, Female, Humans, Immunologic Deficiency Syndromes pathology, Ligands, Male, Young Adult, GATA2 Transcription Factor deficiency, Herpesviridae immunology, Immunologic Deficiency Syndromes diagnosis
- Abstract
MonoMAC is a complex primary immunodeficiency caused by mutations in the myeloid transcription factor GATA2, characterized by multilineage cytopenia with malignant complications and severe infections, including mycobacteria and herpesviruses. We describe the clinical presentation, genetics and antiviral inflammatory responses in a small case series. Two patients presented in childhood with mycobacterial infection and were diagnosed with MonoMAC germline GATA2 variants; their healthy fathers with the same mutations were also studied. Three patients were elderly individuals with acquired GATA2 mutations and malignant haematological conditions. Overall, this study demonstrates the heterogeneous clinical presentation and variation in immunodeficiency caused by GATA2 mutations., (© 2019 British Society for Haematology and John Wiley & Sons Ltd.)
- Published
- 2019
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