The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

J Exp Med. 2011 Feb 14;208(2):227-34. doi: 10.1084/jem.20101459. Epub 2011 Jan 17.


Congenital or acquired cellular deficiencies in humans have the potential to reveal much about normal hematopoiesis and immune function. We show that a recently described syndrome of monocytopenia, B and NK lymphoid deficiency additionally includes the near absence of dendritic cells. Four subjects showed severe depletion of the peripheral blood HLA-DR(+) lineage(-) compartment, with virtually no CD123(+) or CD11c(+) dendritic cells (DCs) and very few CD14(+) or CD16(+) monocytes. The only remaining HLA-DR(+) lineage(-) cells were circulating CD34(+) progenitor cells. Dermal CD14(+) and CD1a(+) DC were also absent, consistent with their dependence on blood-derived precursors. In contrast, epidermal Langerhans cells and tissue macrophages were largely preserved. Combined loss of peripheral DCs, monocytes, and B and NK lymphocytes was mirrored in the bone marrow by complete absence of multilymphoid progenitors and depletion of granulocyte-macrophage progenitors. Depletion of the HLA-DR(+) peripheral blood compartment was associated with elevated serum fms-like tyrosine kinase ligand and reduced circulating CD4(+)CD25(hi)FoxP3(+) T cells, supporting a role for DC in T reg cell homeostasis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antigens, CD / metabolism
  • Bone Marrow Cells / cytology
  • Child
  • Dendritic Cells / cytology*
  • Dendritic Cells / pathology
  • Disease Susceptibility / etiology*
  • Disease Susceptibility / microbiology
  • Disease Susceptibility / virology
  • Enzyme-Linked Immunosorbent Assay
  • Flow Cytometry
  • HLA-DR Antigens / blood*
  • Humans
  • Interferon-gamma / blood
  • Leukopenia / blood
  • Leukopenia / complications
  • Leukopenia / genetics*
  • Microscopy, Fluorescence
  • Monocytes / cytology*
  • Monocytes / pathology
  • Mycobacterium Infections / immunology
  • Syndrome


  • Antigens, CD
  • HLA-DR Antigens
  • Interferon-gamma