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

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DOI

  • Maibritt Mardahl
  • Sofie Eg Jørgensen
  • Alon Schneider, NEURODIN; Department of Biomedicine; Aarhus University; Aarhus, Denmark; Neuroimmunology of Degenerative Diseases group; Department of Biomedicine; Aarhus University; Aarhus, Denmark.
  • ,
  • Klas Raaschou-Jensen, Haematology-Pathology Research Laboratory, Odense University Hospital, Denmark; Department of Haematology, Odense University Hospital, Denmark.
  • ,
  • Mette Holm, Department of Physiotherapy, Unit of Pediatrics, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
  • ,
  • 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.

OriginalsprogEngelsk
TidsskriftBritish Journal of Haematology
ISSN0007-1048
DOI
StatusE-pub ahead of print - 20 maj 2019
Eksternt udgivetJa

Bibliografisk note

© 2019 British Society for Haematology and John Wiley & Sons Ltd.

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