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Article

MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature

31 May 2013

Abstract excerpt

We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.

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Identifiers

PMID: 23728141
DOI: 10.1093/cid/cit368

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Related research

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Research trail→

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MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the LiteraturePMID 23728141Read ↗

[MonoMAC syndrome].Semantic proximity Read ↗

[GATA2 gene mutations: 3 cases].Semantic proximity Read ↗

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.Semantic proximity Read ↗

Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.Semantic proximity Read ↗

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.Semantic proximity Read ↗

GATA2 deficiency.Semantic proximity Read ↗

Haematopoietic and immune defects associated with GATA2 mutation.Semantic proximity Read ↗

Germline GATA2 Mutation and Bone Marrow Failure.Semantic proximity Read ↗

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patientsSemantic proximity Read ↗

Acute lymphoblastic leukemia in a patient with MonoMAC syndrome/<i>GATA2</i> haploinsufficiencySemantic proximity Read ↗

Highly variable clinical manifestations in a large family with a novel GATA2 mutation.Semantic proximity Read ↗

GATA 2 Deficiency: Focus on Immune System ImpairmentSemantic proximity Read ↗

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