Skip to main content

Advertisement

Log in

Rheumatologic manifestations of the “MonoMAC” syndrome. a systematic review

  • Case Based Review
  • Published:
Clinical Rheumatology Aims and scope Submit manuscript

Abstract

MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.

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.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM (2011) Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica 96(8):1221–5

    Article  PubMed Central  PubMed  Google Scholar 

  2. Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood 115(8):1519–29

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Bigley V, Collin M (2011) Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome. Haematologica 96(8):1081–3

    Article  PubMed Central  PubMed  Google Scholar 

  4. Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med 208(2):227–234

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S (2012) GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Eur J Pediatr 171:1273–1276

    Article  CAS  PubMed  Google Scholar 

  6. Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 118(10):2656–8

    Article  CAS  PubMed  Google Scholar 

  7. Camargo J, Lobo S, Hsu A, Zerbe C, Wormer G, Holland S (2013) MonoMAC syndrome in a patient with a GATA2 mutations: case report and review of the literature. Conical Infect Dis 57(5):697–9

    Article  Google Scholar 

  8. Spinner M, Sanchez L, Hsu A, Shaw P, Zerbe C, Calvo K, Arthur D, Gu Q, Gould C, Brewer C, Cowen E, Freeman AF, Olivier KN, Uzel G, Zelazny A, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cueller-Rodriguez J, Hickstein DD, Holland SM (2014) GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 123:809–821

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  9. Muszynski MA, Zerbe C, Holland SM, Kong HH (2014) A woman with warts, leg swelling, and deafness. J Am Acad Dermatol 71:577–80

    Article  PubMed  Google Scholar 

  10. Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, Hsu AP, Zerbe CS, Calvo KR, Wilder J, Kurlander R, Olivier KN, Holland SM, Hickstein DD (2011) Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood 118(13):3715–3720

    Article  PubMed Central  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Jennifer A. Johnson.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Johnson, J.A., Yu, S.S., Elist, M. et al. Rheumatologic manifestations of the “MonoMAC” syndrome. a systematic review. Clin Rheumatol 34, 1643–1645 (2015). https://doi.org/10.1007/s10067-015-2905-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10067-015-2905-2

Keywords

Navigation