1. Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies
- Author
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Carmela Giancotta, Donato Amodio, Gigliola Di Matteo, Maria Chiriaco, Enrico Attardi, Cristina Cifaldi, Nicola Cotugno, Paolo Rossi, Caterina Cancrini, Paolo Palma, Silvia Di Cesare, and Andrea Finocchi
- Subjects
Data Analysis ,Male ,lcsh:Immunologic diseases. Allergy ,0301 basic medicine ,multivariate data analysis ,Adolescent ,Primary Immunodeficiency Diseases ,T cell ,Immunology ,Lymphocyte Activation ,Immunophenotyping ,Flow cytometry ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,T-Lymphocyte Subsets ,Memory cell ,DiGeorge syndrome ,Methods ,Humans ,Immunology and Allergy ,Medicine ,Lymphocyte Count ,Child ,flow cytometric immunophenotyping ,Immunodeficiency ,Settore MED/38 - Pediatria Generale e Specialistica ,medicine.diagnostic_test ,business.industry ,Genetic heterogeneity ,Cell Differentiation ,Prognosis ,medicine.disease ,Phenotype ,030104 developmental biology ,medicine.anatomical_structure ,Molecular Diagnostic Techniques ,diagnostic markers ,T cell differentiation ,Female ,lcsh:RC581-607 ,business ,T cell subsets ,Biomarkers ,CD8 ,primary immunodeficiencies ,030215 immunology - Abstract
Multiparametric flow cytometry (MFC) represents a rapid, highly reproducible, and sensitive diagnostic technology for primary immunodeficiencies (PIDs), which are characterized by a wide range of T cell perturbations and a broad clinical and genetic heterogeneity. MFC data from CD4+ and CD8+ T cell subsets were examined in 100 patients referred for Primary Immunodeficiencies to our center. Naïve, central memory, effector memory, and terminal effector memory cell differentiation stages were defined by the combined expression CD45RA/CD27 for CD4 and CD45RA/CCR7 for CD8. Principal component analysis (PCA), a non-hypothesis driven statistical analysis, was applied to analyze MFC data in order to distinguish the diverse PIDs. Among severe lymphopenic patients, those affected by severe combined and combined immunodeficiency (SCID and CID) segregated in a specific area, reflecting a homogenous, and a more severe T cell impairment, compared to other lymphopenic PID, such as thymectomized and partial DiGeorge syndrome patients. PID patients with predominantly antibody defects were distributed in a heterogeneous pattern, but unexpectedly PCA was able to cluster some patients' resembling CID, hence warning for additional and more extensive diagnostic tests and a diverse clinical management. In conclusion, PCA applied to T cell MFC data might help the physician to estimate the severity of specific PID and to diversify the clinical and diagnostic approach of the patients.
- Published
- 2019