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*

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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
Vol/bind186
Udgave nummer3
Sider (fra-til)471-476
ISSN0007-1048
DOI
StatusUdgivet - 1. aug. 2019

Fingeraftryk

Herpesviridae
Ligands
Mutation
GATA2 Transcription Factor
Herpesviridae Infections
Fathers

Citer dette

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. I: British Journal of Haematology. 2019 ; Bind 186, Nr. 3. s. 471-476.
@article{e9223d7528e84437b09aa762589becd0,
title = "Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC",
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",
author = "Maibritt Mardahl and J{\o}rgensen, {Sofie Eg} and Alon Schneider and Klas Raaschou-Jensen and Mette Holm and Jens Veirum and Kristensen, {Thomas K.} and Johansen, {Isik S.} and Mette Christiansen and Kristian Assing and Mogensen, {Trine H.}",
year = "2019",
month = "8",
day = "1",
doi = "10.1111/bjh.15947",
language = "English",
volume = "186",
pages = "471--476",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell",
number = "3",

}

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, bind 186, nr. 3, s. 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.

I: British Journal of Haematology, Bind 186, Nr. 3, 01.08.2019, s. 471-476.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

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.

PY - 2019/8/1

Y1 - 2019/8/1

N2 - 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.

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

U2 - 10.1111/bjh.15947

DO - 10.1111/bjh.15947

M3 - Journal article

VL - 186

SP - 471

EP - 476

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 3

ER -