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

doi:10.1111/bjh.15947

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

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

7 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	British Journal of Haematology
Vol/bind	186
Nummer	3
Sider (fra-til)	471-476
Antal sider	6
ISSN	0007-1048
DOI	https://doi.org/10.1111/bjh.15947
Status	Udgivet - aug. 2019

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10.1111/bjh.15947

Citationsformater

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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, MonoMAC, haematological malignancy, herpesviruses, innate immune responses, 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}",

note = "{\textcopyright} 2019 British Society for Haematology and John Wiley & Sons Ltd.",

year = "2019",

month = aug,

doi = "10.1111/bjh.15947",

language = "English",

volume = "186",

pages = "471--476",

journal = "British Journal of Haematology",

issn = "0007-1048",

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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

Y1 - 2019/8

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 - MonoMAC

KW - haematological malignancy

KW - herpesviruses

KW - innate immune responses

KW - mycobacteria

U2 - 10.1111/bjh.15947

DO - 10.1111/bjh.15947

M3 - Journal article

C2 - 31106410

SN - 0007-1048

VL - 186

SP - 471

EP - 476

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 3

ER -

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

Abstract

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