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 Haematoljournal_title
British journal of haematologyauthors
Mardahl M,Jørgensen SE,Schneider A,Raaschou-Jensen K,Holm M,Veirum J,Kristensen TK,Johansen IS,Christiansen M,Assing K,Mogensen THdoi
10.1111/bjh.15947subject
Has Abstractpub_date
2019-08-01 00:00:00pages
471-476issue
3eissn
0007-1048issn
1365-2141journal_volume
186pub_type
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