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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2019

01-01-2019 | Letter to Editor

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation

Authors: Maria Francisca Moraes-Fontes, Íris Caramalho, Amy P. Hsu, Steven M. Holland, Manuel Abecasis

Published in: Journal of Clinical Immunology | Issue 1/2019

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Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
1.
Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–5.CrossRefPubMedPubMedCentral
2.
Camargo JF, Lobo SA, Hsu AP, Zerbe CS, Wormser GP, Holland SM. MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Clin Infect Dis. 2013;57(5):697–9.CrossRefPubMedPubMedCentral
3.
Fox TA, Chakraverty R, Burns S, Carpenter B, Thomson K, Lowe D, et al. Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency. Blood. 2018;131(8):917–31.CrossRefPubMedPubMedCentral
4.
Tholouli E, Sturgess K, Dickinson RE, Gennery A, Cant AJ, Jackson G, et al. In vivo T-depleted reduced-intensity transplantation for GATA2-related immune dysfunction. Blood. 2018;131(12):1383–7.CrossRefPubMedPubMedCentral
5.
Vasconcelos J, Marques L, Cleto E, Barbot J, Neves E, Freitas I, et al. Monomac syndrome case report. J Clin Immunol. 2012;32(Suppl 1):S210.
Metadata
Title
MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation
Authors
Maria Francisca Moraes-Fontes
Íris Caramalho
Amy P. Hsu
Steven M. Holland
Manuel Abecasis
Publication date
01-01-2019
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0576-x

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