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Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.
Montin, Davide; Marolda, Agostina; Licciardi, Francesco; Robasto, Francesca; Di Cesare, Silvia; Ricotti, Emanuela; Ferro, Francesca; Scaioli, Giacomo; Giancotta, Carmela; Amodio, Donato; Conti, Francesca; Giardino, Giuliana; Leonardi, Lucia; Ricci, Silvia; Volpi, Stefano; Baselli, Lucia Augusta; Azzari, Chiara; Bossi, Grazia; Consolini, Rita; Dellepiane, Rosa Maria; Duse, Marzia; Gattorno, Marco; Martire, Baldassarre; Putti, Maria Caterina; Soresina, Annarosa; Plebani, Alessandro; Ramenghi, Ugo; Martino, Silvana; Pignata, Claudio; Cancrini, Caterina.
Afiliación
  • Montin D; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy.
  • Marolda A; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy; Department of Health Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy.
  • Licciardi F; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy. Electronic address: francesco.licciardi@gmail.com.
  • Robasto F; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy.
  • Di Cesare S; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Ricotti E; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy.
  • Ferro F; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy; Division of Microbiology and Virology, Maggiore della Carità Hospital, Novara, Italy.
  • Scaioli G; Department of Public Health, University of Turin, Turin, Italy.
  • Giancotta C; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Amodio D; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Conti F; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Giardino G; Department of Pediatrics, "Federico II" University of Naples, Naples, Italy.
  • Leonardi L; Department of Pediatrics, La Sapienza University of Rome, Rome, Italy.
  • Ricci S; Division of Immunology, Section of Pediatrics, Department of Health Sciences, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
  • Volpi S; Pediatric and Rheumatology Clinic, Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
  • Baselli LA; Department of Pediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Azzari C; Division of Immunology, Section of Pediatrics, Department of Health Sciences, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
  • Bossi G; Department of Pediatrics, IRCCS San Matteo Hospital Foundation, Pavia, Italy.
  • Consolini R; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Dellepiane RM; Department of Pediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Duse M; Department of Pediatrics, La Sapienza University of Rome, Rome, Italy.
  • Gattorno M; Pediatric and Rheumatology Clinic, Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
  • Martire B; Pediatric Hematology and Oncology Unit, "Policlinico-Giovanni XXIII" Hospital, University of Bari, Bari, Italy.
  • Putti MC; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, Azienda Ospedaliera-University of Padova, Padua, Italy.
  • Soresina A; Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli," University and Spedali Civili, Brescia, Italy.
  • Plebani A; Pediatrics Clinic and Institute of Molecular Medicine "A. Nocivelli," University and Spedali Civili, Brescia, Italy.
  • Ramenghi U; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy.
  • Martino S; Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, "Regina Margherita" Children Hospital, University of Turin, Turin, Italy.
  • Pignata C; Department of Pediatrics, "Federico II" University of Naples, Naples, Italy.
  • Cancrini C; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
J Allergy Clin Immunol Pract ; 7(7): 2369-2376, 2019.
Article en En | MEDLINE | ID: mdl-30922987
BACKGROUND: Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia. There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients. OBJECTIVE: To describe the peculiar B and T subpopulation defects in patients with 22q11DS who have developed HA and test if these defects precede the development of HA. METHODS: We performed a case-control multicenter study. Patients with HA were compared with a control population of 22q11.2DS without HA (non-HA). A complete immunological evaluation was performed at diagnosis and at the last follow-up including extensive T and B phenotypes. RESULTS: Immunophenotype at the last follow-up was available in 23 HA and 45 non-HA patients. HA patients had significantly decreased percentage of naïve CD4+ cells (26.8% vs 43.2%, P = .003) and recent thymic emigrants (48.6% vs 80.5%, P = .046); decreased class-switched B cells (2.0% vs 5.9%, P = .04) and increased naive B cells (83.5% vs 71.4%, P = .02); increased CD16+/56+ both in absolute number (312 vs 199, P = .009) and percentage (20.0% vs 13.0%, P = .03). Immunophenotype was performed in 36 patients (11 HA and 25 non-HA) at diagnosis. Odds ratio (OR) of immune cytopenia were estimated for both CD4 naïve ≤30% (OR 14.0, P = .002) and switched memory B cells ≤2% (OR 44.0, P = .01). The estimated survival curves reached statistical significance, respectively, P = .0001 and P = .002. CONCLUSIONS: Among patients with 22q11.2DS, those with HA have characteristic lymphocyte anomalies that appear considerably before HA onset. Systematic immunophenotyping of patients with 22q11.2DS at diagnosis is advisable for early identification of patients at risk for this severe complication.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Linfocitos B / Linfocitos T / Síndrome de DiGeorge / Linfopenia Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2019 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Linfocitos B / Linfocitos T / Síndrome de DiGeorge / Linfopenia Tipo de estudio: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Pract Año: 2019 Tipo del documento: Article País de afiliación: Italia