Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: Diagnostic features and clinical implications

Katherine R. Calvo, Donald C. Vinh, Irina Maric, Weixin Wang, Pierre Noel, Maryalice Stetler-Stevenson, Diane C. Arthur, Mark Raffeld, Amalia Dutra, Evgenia Pak, Kyungjae Myung, Amy P. Hsu, Dennis D. Hickstein, Stefania Pittaluga, Steven M. Holland

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

A novel, genetic immunodeficiency syndrome has been recently described, herein termed "MonoMAC". It is characterized by severe circulating monocytopenia, NK-and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia. Detailed bone marrow analyses performed on 18 patients further define this disorder. The majority of patients had hypocellular marrows with reticulin fibrosis and multilineage dysplasia affecting the myeloid (72%), erythroid (83%) and megakaryocytic (100%) lineages. Cytogenetic abnormalities were present in 10 of 17 (59%). Despite B-lymphocytopenia, plasma cells were present but were abnormal (e.g. CD56+) in nearly half of cases. Increased T-cell large granular lymphocyte populations were present in 28% of patients. Chromosomal breakage studies, cell cycle checkpoint functions, and sequencing of TERT and K-RAS genes revealed no abnormalities. MonoMAC appears to be a unique, inherited syndrome of bone marrow failure. We describe distinctive bone marrow features to help in its recognition and diagnosis.

Original languageEnglish (US)
Pages (from-to)1221-1225
Number of pages5
JournalHaematologica
Volume96
Issue number8
DOIs
StatePublished - Aug 2011

Keywords

  • GATA2 deficiency
  • MDS
  • MonoMAC
  • Monocytopenia
  • Mycobacterium avium complex
  • Myelodysplasia

ASJC Scopus subject areas

  • Hematology

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    Calvo, K. R., Vinh, D. C., Maric, I., Wang, W., Noel, P., Stetler-Stevenson, M., Arthur, D. C., Raffeld, M., Dutra, A., Pak, E., Myung, K., Hsu, A. P., Hickstein, D. D., Pittaluga, S., & Holland, S. M. (2011). Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: Diagnostic features and clinical implications. Haematologica, 96(8), 1221-1225. https://doi.org/10.3324/haematol.2011.041152