Skip to main content

Advertisement

Log in

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

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Google Scholar 

Download references

Acknowledgements

The authors thank Dr. Analisa Filomena Leal Lopes Ribeiro from Anatomia Patológica, Hospital Pulido Valente, Centro Hospitalar Lisboa Norte, Portugal, for the histological review of the lung biopsy.

Funding

This work is supported in part by Fundação para a Ciência e a Tecnologia (fellowship with reference SFRH/BPD/111454/2015–IC) and by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA (AH and SH).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Maria Francisca Moraes-Fontes.

Ethics declarations

Conflict of Interest

The authors declare that they have no conflict of interest.

Informed Consent

Patient signed informed consent for genetic analysis and case publication.

Electronic Supplementary Material

ESM 1

(DOCX 1050 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Moraes-Fontes, M.F., Caramalho, Í., Hsu, A.P. et al. MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation. J Clin Immunol 39, 4–6 (2019). https://doi.org/10.1007/s10875-018-0576-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-018-0576-x

Navigation