title: Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: clinical study and review of the literature.
abstract: Autoimmune endocrinopathies are characterised by an increased number of peripheral blood lymphocytes (PBL) expressing activation/ memory markers on their surface. The aim of this study was to determine whether a similar finding could be detected in a group of 11 paediatric and young adult patients suffering from autoimmune polyglandular syndrome type 1 (APS1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), as very few data have previously been reported in this field. The control group was made up of 11 sex- and age-matched healthy subjects. Fifteen lymphocyte subsets were compared, in terms of percentage and absolute number, and statistical analysis was performed by the Mann-Whitney test. Measurement of T (CD3+), B (CD19+), natural killer (NK, CD3-CD16/56+), CD4+ and CD8+ T lymphocytes showed that patients with APS1 had a higher percentage and absolute count of T lymphocytes: this was entirely due to the statistically larger CD3+CD4+ fraction. Patients with APS1 also had slightly fewer B and NK lymphocytes, but the difference was negligible. Comparison of CD4+ subpopulations bearing activation and naive/memory antigens (marked by CD69, CD25, anti-HLA-DR, CD45RA and CD45RO) showed that patients with APS1 had generally larger percentages and absolute counts of these subsets: however, only the percentage and absolute size of the CD4+CD25+ subset (p = 0.0354 and p = 0.0151, respectively), and the absolute number of the CD4+ anti-HLA-DR+ and CD4+ CD45RO+ subsets (p = 0.0193 and p = 0.0209, respectively) were significantly higher. Interestingly, patients with APS1 also had significantly fewer CD8+CD11b+ and CD3-CD8+ cells. In conclusion, PBL distribution in APS1 resembles that of other autoimmune diseases. Further studies are needed to confirm and possibly extend these data.
authors.affiliation: Paediatric Medicine Unit, Vito Fazzi Regional Hospital, Lecce, Italy. rperniola@hotmail.com
authors.forename: Roberto
authors.initials: R
authors.lastname: Perniola
authors.forename: Giambattista
authors.initials: G
authors.lastname: Lobreglio
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
authors.forename: Elena
authors.initials: E
authors.lastname: Pitotti
authors.forename: Elisa
authors.initials: E
authors.lastname: Accogli
authors.forename: Corrado
authors.initials: C
authors.lastname: De Rinaldis
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000032:analysis*; D018941:Antigens, CD19 / Q000032:analysis; D017252:CD3 Complex / Q000032:analysis; D015704:CD4 Antigens / Q000032:analysis; D016827:CD8 Antigens / Q000032:analysis; D002648:Child; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D007694:Killer Cells, Natural; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D016131:Lymphocyte Subsets / Q000276:immunology*; D008297:Male; D016555:Matched-Pair Analysis; D016884:Polyendocrinopathies, Autoimmune / Q000145:classification / Q000235:genetics / Q000276:immunology*; D012016:Reference Values; D018709:Statistics, Nonparametric; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D015703:Antigens, CD; D018941:Antigens, CD19; D017252:CD3 Complex; D015704:CD4 Antigens; D016827:CD8 Antigens; D014157:Transcription Factors; D000096927:AIRE Protein