Mette Holm

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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

DOI

  • Maibritt Mardahl
  • Sofie Eg Jørgensen
  • Alon Schneider
  • Klas Raaschou-Jensen, Haematology-Pathology Research Laboratory, Odense University Hospital, Denmark; Department of Haematology, Odense University Hospital, Denmark.
  • ,
  • Mette Holm
  • Jens Veirum
  • Thomas K Kristensen, Departement of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • ,
  • Isik S Johansen, c Department of Infectious Diseases , Odense University Hospital , Odense , Denmark.
  • ,
  • Mette Christiansen
  • Kristian Assing, Departement of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • ,
  • Trine H Mogensen

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
Issue3
Pages (from-to)471-476
Number of pages6
ISSN0007-1048
DOIs
Publication statusPublished - Aug 2019

    Research areas

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

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