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Article

MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesion.

BMJ case reports - 21 Apr 2018

Monif Mastura, Huq Aamira, Chee Lynette, Kilpatrick Trevor

Abstract excerpt

We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of GATA2 haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29680795
DOI: 10.1136/bcr-2017-222872
PMCID: PMC5926668

Genes

GATA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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