title: Immune system disturbances in Clouston syndrome.
abstract: BACKGROUND
  Clouston syndrome belongs to the family of ectodermal dysplasias. So far, a defective immune response has not been reported in Clouston syndrome. We report, for the first time, immunological particularities of a large multigenerational Polish family with Clouston syndrome.
  
  
  METHODS
  Five members of the same family with Clouston syndrome, aged 6-76 years, and 20 healthy volunteers, aged 19-73 years, were enrolled in the study. In all participants, the ability of neutrophils to phagocytize opsonized Escherichia coli was assessed. Granulocyte oxidative burst was determined quantitatively, and an isolation of peripheral blood mononuclear cells and the detection of lymphocyte subsets were performed. All patients with Clouston syndrome underwent microscopic assessment of hair shafts, x-rays of the skull and hand bones, extra- and intraoral examination, and panoramic x-rays.
  
  
  RESULTS
  Compared to the controls, all patients with Clouston syndrome presented with significantly reduced phagocytic activities of granulocytes and monocytes (P < 0.05). The percentages of granulocytes and monocytes being positive for oxidative burst were also significantly reduced in all patients with Clouston syndrome (P < 0.05). No disturbances in the percentages and absolute counts of T CD3+, T CD3+/CD4+, T CD3+/CD8+, natural killer, and B CD19+ cells were found.
  
  
  CONCLUSIONS
  Although this study expands knowledge about Clouston syndrome, it also raises many questions. The results provide evidence of significantly reduced phagocytic activity and oxidative bursts of cells playing crucial roles in a nonspecific immune response. Further studies are required to understand the underlying mechanism of the hereby described abnormalities.
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Aldona
authors.initials: A
authors.lastname: Pietrzak
authors.affiliation: Department of Clinical Immunology and Immunotherapy, Medical University of Lublin, Lublin, Poland.
authors.forename: Ewelina
authors.initials: E
authors.lastname: Grywalska
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Gerkowicz
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Krasowska
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Chodorowska
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Michalska-Jakubus
authors.affiliation: Department of Clinical Immunology and Immunotherapy, Medical University of Lublin, Lublin, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Roliński
authors.affiliation: Department of Dermatology, Venereology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
authors.forename: Bartłomiej
authors.initials: B
authors.lastname: Wawrzycki
authors.affiliation: Department of Human Anatomy, Medical University of Lublin, Lublin, Poland.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Radej
authors.affiliation: Department of Pediatric Radiology, Medical University of Lublin, Lublin, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Dybiec
authors.affiliation: Department of Vascular Surgery and Angiology, Medical University of Lublin, Lublin, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Wroński
authors.affiliation: Health Care Centre MedGen, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczyńska-Tomaszewska
authors.affiliation: Department of Maxillofacial Orthopedics, Medical University of Lublin, Lublin, Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Rudzki
authors.affiliation: Department of Dermatology, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: Smail
authors.initials: S
authors.lastname: Hadj-Rabia
mesh_terms: D000328:Adult; D000368:Aged; D001402:B-Lymphocytes; D015496:CD4-Positive T-Lymphocytes; D018414:CD8-Positive T-Lymphocytes; D016022:Case-Control Studies; D002648:Child; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000276:immunology*; D006098:Granulocytes / Q000276:immunology; D006801:Humans; D018655:Lymphocyte Count; D008875:Middle Aged; D009000:Monocytes / Q000276:immunology*; D055611:Natural Killer T-Cells; D009504:Neutrophils / Q000276:immunology*; D010587:Phagocytosis; D016897:Respiratory Burst; D013601:T-Lymphocytes; D055815:Young Adult
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human