Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency

Alberto Prandini, Valentina Salvi, Francesca Colombo, Daniele Moratto, Luisa Lorenzi, William Vermi, Maria Antonia De Francesco, Lucia Dora Notarangelo, Fulvio Porta, Alessandro Plebani, Fabio Facchetti, Silvano Sozzani, Raffaele Badolato

Research output: Contribution to journalArticlepeer-review


Hermansky-Pudlak syndrome type 2 (HPS2) is a primary immunodeficiency due to adaptor protein-3 (AP-3) complex deficiency. HPS2 patients present neutropenia, partial albinism, and impaired lysosomal vesicles formation in hematopoietic cells. Given the role of dendritic cells (DCs) in the immune response, we studied monocyte-derived DCs (moDCs) and plasmacytoid DCs (pDCs) in two HPS2 siblings. Mature HPS2 moDCs showed impaired expression of CD83 and DC-lysosome-associated membrane protein (LAMP), low levels of MIP1-β/CCL4, MIG/CXCL9, and severe defect of interleukin-12 (IL-12) secretion. DCs in lymph-node biopsies from the same patients showed a diffuse cytoplasm reactivity in a large fraction of DC-LAMP(+) cells, instead of the classical dot-like stain. In addition, analysis of pDC-related functions of blood-circulating mononuclear cells revealed reduced interferon-α secretion in response to herpes simplex virus-1 (HSV-1), whereas granzyme-B induction upon IL-3/IL-10 stimulation was normal. Finally, T-cell costimulatory activity, as measured by mixed lymphocyte reaction assay, was lower in patients, suggesting that function and maturation of DCs is abnormal in patients with HPS2.

Original languageEnglish
Pages (from-to)3382-6
Number of pages5
Issue number26
Publication statusPublished - Jun 30 2016


  • Adaptor Protein Complex 3
  • Antigens, CD
  • Cell Adhesion Molecules, Neuronal
  • Cytokines
  • Dendritic Cells
  • Female
  • GPI-Linked Proteins
  • Gene Expression Regulation
  • Granzymes
  • Hermanski-Pudlak Syndrome
  • Herpesvirus 1, Human
  • Humans
  • Immunoglobulins
  • Male
  • Membrane Glycoproteins
  • Monocytes
  • T-Lymphocytes
  • Journal Article
  • Research Support, Non-U.S. Gov't


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