Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC

Maibritt Mardahl, Sofie Eg Jørgensen, Alon Schneider, Klas Raaschou-Jensen, Mette Holm, Jens Veirum, Thomas K. Kristensen, Isik S. Johansen, Mette Christiansen, Kristian Assing, Trine H. Mogensen*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Original languageEnglish
JournalBritish Journal of Haematology
Volume186
Issue number3
Pages (from-to)471-476
ISSN0007-1048
DOIs
Publication statusPublished - 1. Aug 2019

Fingerprint

Herpesviridae
Ligands
Mutation
GATA2 Transcription Factor
Herpesviridae Infections
Fathers

Keywords

  • GATA2
  • haematological malignancy
  • herpesviruses
  • innate immune responses
  • MonoMAC
  • mycobacteria

Cite this

Mardahl, M., Jørgensen, S. E., Schneider, A., Raaschou-Jensen, K., Holm, M., Veirum, J., ... Mogensen, T. H. (2019). Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC. British Journal of Haematology, 186(3), 471-476. https://doi.org/10.1111/bjh.15947
Mardahl, Maibritt ; Jørgensen, Sofie Eg ; Schneider, Alon ; Raaschou-Jensen, Klas ; Holm, Mette ; Veirum, Jens ; Kristensen, Thomas K. ; Johansen, Isik S. ; Christiansen, Mette ; Assing, Kristian ; Mogensen, Trine H. / Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC. In: British Journal of Haematology. 2019 ; Vol. 186, No. 3. pp. 471-476.
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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.",
keywords = "GATA2, haematological malignancy, herpesviruses, innate immune responses, MonoMAC, mycobacteria",
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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 & Mogensen, TH 2019, 'Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC', British Journal of Haematology, vol. 186, no. 3, pp. 471-476. https://doi.org/10.1111/bjh.15947

Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC. / Mardahl, Maibritt; Jørgensen, Sofie Eg; Schneider, Alon; Raaschou-Jensen, Klas; Holm, Mette; Veirum, Jens; Kristensen, Thomas K.; Johansen, Isik S.; Christiansen, Mette; Assing, Kristian; Mogensen, Trine H.

In: British Journal of Haematology, Vol. 186, No. 3, 01.08.2019, p. 471-476.

Research output: Contribution to journalJournal articleResearchpeer-review

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T1 - Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC

AU - Mardahl, Maibritt

AU - Jørgensen, Sofie Eg

AU - Schneider, Alon

AU - Raaschou-Jensen, Klas

AU - Holm, Mette

AU - Veirum, Jens

AU - Kristensen, Thomas K.

AU - Johansen, Isik S.

AU - Christiansen, Mette

AU - Assing, Kristian

AU - Mogensen, Trine H.

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AB - 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.

KW - GATA2

KW - haematological malignancy

KW - herpesviruses

KW - innate immune responses

KW - MonoMAC

KW - mycobacteria

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DO - 10.1111/bjh.15947

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EP - 476

JO - British Journal of Haematology

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SN - 0007-1048

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