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Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

  1. Author:
    Vinh, D. C.
    Patel, S. Y.
    Uzel, G.
    Anderson, V. L.
    Freeman, A. F.
    Olivier, K. N.
    Spalding, C.
    Hughes, S.
    Pittaluga, S.
    Raffeld, M.
    Sorbara, L. R.
    Elloumi, H. Z.
    Kuhns, D. B.
    Turner, M. L.
    Cowen, E. W.
    Fink, D.
    Long-Priel, D.
    Hsu, A. P.
    Ding, L.
    Paulson, M. L.
    Whitney, A. R.
    Sampaio, E. P.
    Frucht, D. M.
    Deleo, F. R.
    Holland, S. M.

  2. Author Address

    [Vinh, Donald C.; Patel, Smita Y.; Uzel, Gulbu; Anderson, Victoria L.; Freeman, Alexandra F.; Olivier, Kenneth N.; Spalding, Christine; Elloumi, Houda Z.; Hsu, Amy P.; Ding, Li; Paulson, Michelle L.; Sampaio, Elizabeth P.; Holland, Steven M.] NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA. [Freeman, Alexandra F.] SAIC, Intramural Clin Management & Operat Branch, Frederick, MD USA. [Hughes, Stephen] Newcastle Gen Hosp, Paediat Immunol Unit, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England. [Pittaluga, Stefania; Raffeld, Mark] NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA. [Sorbara, Lynn R.] NCI, Canc Biomarkers Res Grp, Bethesda, MD 20892 USA. [Turner, Maria L.; Cowen, Edward W.] NCI, Dermatol Branch, NIH, Bethesda, MD 20892 USA. [Whitney, Adeline R.; Deleo, Frank R.] NIAID, Lab Human Bacterial Pathogenesis, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. [Frucht, David M.] US FDA, Cell Biol Lab, Off Biotechnol Prod, Ctr Drug Evaluat & Res, Bethesda, MD 20014 USA.;Holland, SM, NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bldg 10 CRC,Rm B3-4141,MSC 1684, Bethesda, MD 20892 USA.;smh@nih.gov
    1. Year: 2010
    2. Date: Feb
  2. Journal: Blood
    1. 115
    2. 8
    3. Pages: 1519-1529
  4. Type of Article: Article
  5. ISSN: 0006-4971
  1. Abstract:

    We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis, and molds. This syndrome typically had its onset in adulthood (age range, 7-60 years; mean, 31.1 years; median, 32 years) and was characterized by profound circulating monocytopenia (mean, 13.3 cells/mu L; median, 14.5 cells/mu L), B lymphocytopenia (mean, 9.4 cells/mu L; median, 4 cells/mu L), and NK lymphocytopenia (mean, 16 cells/mu L; median, 5.5 cells/mu L). T lymphocytes were variably affected. Despite these peripheral cytopenias, all patients had macrophages and plasma cells at sites of inflammation and normal immunoglobulin levels. Ten of these patients developed 1 or more of the following malignancies: 9 myelodysplasia/leukemia, 1 vulvar carcinoma and metastatic melanoma, 1 cervical carcinoma, 1 Bowen disease of the vulva, and 1 multiple Epstein-Barr virus(+) leiomyosarcoma. Five patients developed pulmonary alveolar proteinosis without mutations in the granulocyte-macrophage colony-stimulating factor receptor or anti-granulocyte-macrophage colony-stimulating factor autoantibodies. Among these 18 patients, 5 families had 2 generations affected, suggesting autosomal dominant transmission as well as sporadic cases. This novel clinical syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. (Blood. 2010;115:1519-1529)

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External Sources

  1. View Full Text
  2. DOI: 10.1182/blood-2009-03-208629
  3. View record in Web of Science®
  4. WOS: 000274974200009

Library Notes

  1. Fiscal Year: FY2009-2010
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