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

Blood. 2010 Feb 25;115(8):1519-29. doi: 10.1182/blood-2009-03-208629. Epub 2009 Dec 29.

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/microL; median, 14.5 cells/microL), B lymphocytopenia (mean, 9.4 cells/microL; median, 4 cells/microL), and NK lymphocytopenia (mean, 16 cells/microL; median, 5.5 cells/microL). 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Fungi
  • Genetic Diseases, Inborn / blood
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Leukocyte Count
  • Leukopenia / blood
  • Leukopenia / complications
  • Leukopenia / genetics*
  • Male
  • Middle Aged
  • Mycobacterium
  • Mycobacterium Infections / blood
  • Mycobacterium Infections / etiology
  • Mycobacterium Infections / genetics*
  • Mycoses / blood
  • Mycoses / etiology
  • Mycoses / genetics*
  • Myelodysplastic Syndromes / blood
  • Myelodysplastic Syndromes / etiology
  • Myelodysplastic Syndromes / genetics*
  • Neoplasms / blood
  • Neoplasms / etiology
  • Neoplasms / genetics
  • Papillomaviridae
  • Papillomavirus Infections / blood
  • Papillomavirus Infections / etiology
  • Papillomavirus Infections / genetics*
  • Pedigree*