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.

journal_name

Br J Haematol

authors

Mardahl M,Jørgensen SE,Schneider A,Raaschou-Jensen K,Holm M,Veirum J,Kristensen TK,Johansen IS,Christiansen M,Assing K,Mogensen TH

doi

10.1111/bjh.15947

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

471-476

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

186

pub_type

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