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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

  1. Author:
    Hsu, A. P.
    Sampaio, E. P.
    Khan, J.
    Calvo, K. R.
    Lemieux, J. E.
    Patel, S. Y.
    Frucht, D. M.
    Vinh, D. C.
    Auth, R. D.
    Freeman, A. F.
    Olivier, K. N.
    Uzel, G.
    Zerbe, C. S.
    Spalding, C.
    Pittaluga, S.
    Raffeld, M.
    Kuhns, D. B.
    Ding, L.
    Paulson, M. L.
    Marciano, B. E.
    Gea-Banacloche, J. C.
    Orange, J. S.
    Cuellar-Rodriguez, J.
    Hickstein, D. D.
    Holland, S. M.

  2. Author Address

    [Hsu, AP; Sampaio, EP; Vinh, DC; Freeman, AF; Olivier, KN; Uzel, G; Zerbe, CS; Spalding, C; Ding, L; Paulson, ML; Marciano, BE; Cuellar-Rodriguez, J; Holland, SM] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA. [Khan, J] NCI, Oncogen Sect, Pediat Oncol Branch, Bethesda, MD 20892 USA. [Calvo, KR] Warren Grant Magnuson Clin Canc Ctr, Hematol Sect, Dept Lab Med, Bethesda, MD USA. [Lemieux, JE] NIAID, Lab Malaria & Vector Res, NIH, Bethesda, MD 20892 USA. [Patel, SY] Univ Oxford, John Radcliffe Hosp, Oxford OX3 9DU, England. [Frucht, DM; Auth, RD] Fed Drug Adm, Ctr Drug Evaluat & Res, Silver Spring, MD USA. [Pittaluga, S; Raffeld, M] NCI, Pathol Lab, Bethesda, MD 20892 USA. [Kuhns, DB; Paulson, ML] NCI, SAIC Frederick Inc, Frederick, MD 21701 USA. [Gea-Banacloche, JC; Hickstein, DD] NCI, Expt Transplantat & Immunol Branch, Bethesda, MD 20892 USA. [Orange, JS] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA.;Holland, SM (reprint author), NIAID, Lab Clin Infect Dis, NIH, CRC B3-4141,MSC 1684, Bethesda, MD 20892 USA;smh@nih.gov
    1. Year: 2011
    2. Date: Sep
  2. Journal: Blood
    1. 118
    2. 10
    3. Pages: 2653-2655
  4. Type of Article: Article
  5. ISSN: 0006-4971
  1. Abstract:

    The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in GATA2 affecting 20 patients and relatives with this syndrome, including recur-rent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploin-sufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy. (Blood. 2011;118(10):2653-2655)

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External Sources

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  2. DOI: 10.1182/blood-2011-05-356352
  3. View record in Web of Science®
  4. WOS: 000294801500008

Library Notes

  1. Fiscal Year: FY2011-2012
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