Abstract
BACKGROUND: patients with 22q11.2DS may develop severe thrombocytopenic purpura (ITP) and hemolytic anemia (AIHA). There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients.
OBJECTIVE: describe the peculiar B and T subpopulations defects in 22q11DS patients that 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 hematologic autoimmunity (non-HA). A complete immunological evaluation was performed at diagnosis and at last follow-up including extensive T and B phenotype.
RESULTS: Immunophenotype at 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=0,003) and recent thymic emigrants (48,6% vs 80,5%, p=0,046); decreased class-switched B cells (2,0% vs 5,9% p=0,04) and increased naive B cells (83,5% vs 71,4%, p=0,02); increased CD16+/56+ both in absolute number (312 vs 199, p=0,009) and percentage (20,0% vs 13,0%, p=0,03). 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=0.002) and for SMB ≤2% (OR 44.0 p=0.01). The estimated survival curves reached statistical significance respectively p=0.0001 and p=0.002.
CONCLUSION: Among 22q11.2DS patients those with HA have characteristic lymphocytes anomalies that appear considerably before HA onset. Systematic immunophenotyping of 22q11.2DS patients at diagnosis is advisable for early identification of patients at risk for this severe complication.
| Original language | English |
|---|---|
| Journal | Journal of Allergy and Clinical Immunology: In Practice |
| DOIs | |
| Publication status | E-pub ahead of print - Mar 25 2019 |
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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; Caterina Putti, Maria; Soresina, Annarosa; Plebani, Alessandro; Ramenghi, Ugo; Martino, Silvana; Pignata, Claudio; Cancrini, Caterina.
In: Journal of Allergy and Clinical Immunology: In Practice, 25.03.2019.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 Deletion Syndrome
AU - Montin, Davide
AU - Marolda, Agostina
AU - Licciardi, Francesco
AU - Robasto, Francesca
AU - Di Cesare, Silvia
AU - Ricotti, Emanuela
AU - Ferro, Francesca
AU - Scaioli, Giacomo
AU - Giancotta, Carmela
AU - Amodio, Donato
AU - Conti, Francesca
AU - Giardino, Giuliana
AU - Leonardi, Lucia
AU - Ricci, Silvia
AU - Volpi, Stefano
AU - Baselli, Lucia Augusta
AU - Azzari, Chiara
AU - Bossi, Grazia
AU - Consolini, Rita
AU - Dellepiane, Rosa Maria
AU - Duse, Marzia
AU - Gattorno, Marco
AU - Martire, Baldassarre
AU - Caterina Putti, Maria
AU - Soresina, Annarosa
AU - Plebani, Alessandro
AU - Ramenghi, Ugo
AU - Martino, Silvana
AU - Pignata, Claudio
AU - Cancrini, Caterina
N1 - Copyright © 2019. Published by Elsevier Inc.
PY - 2019/3/25
Y1 - 2019/3/25
N2 - BACKGROUND: patients with 22q11.2DS may develop severe thrombocytopenic purpura (ITP) and hemolytic anemia (AIHA). There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients.OBJECTIVE: describe the peculiar B and T subpopulations defects in 22q11DS patients that 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 hematologic autoimmunity (non-HA). A complete immunological evaluation was performed at diagnosis and at last follow-up including extensive T and B phenotype.RESULTS: Immunophenotype at 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=0,003) and recent thymic emigrants (48,6% vs 80,5%, p=0,046); decreased class-switched B cells (2,0% vs 5,9% p=0,04) and increased naive B cells (83,5% vs 71,4%, p=0,02); increased CD16+/56+ both in absolute number (312 vs 199, p=0,009) and percentage (20,0% vs 13,0%, p=0,03). 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=0.002) and for SMB ≤2% (OR 44.0 p=0.01). The estimated survival curves reached statistical significance respectively p=0.0001 and p=0.002.CONCLUSION: Among 22q11.2DS patients those with HA have characteristic lymphocytes anomalies that appear considerably before HA onset. Systematic immunophenotyping of 22q11.2DS patients at diagnosis is advisable for early identification of patients at risk for this severe complication.
AB - BACKGROUND: patients with 22q11.2DS may develop severe thrombocytopenic purpura (ITP) and hemolytic anemia (AIHA). There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients.OBJECTIVE: describe the peculiar B and T subpopulations defects in 22q11DS patients that 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 hematologic autoimmunity (non-HA). A complete immunological evaluation was performed at diagnosis and at last follow-up including extensive T and B phenotype.RESULTS: Immunophenotype at 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=0,003) and recent thymic emigrants (48,6% vs 80,5%, p=0,046); decreased class-switched B cells (2,0% vs 5,9% p=0,04) and increased naive B cells (83,5% vs 71,4%, p=0,02); increased CD16+/56+ both in absolute number (312 vs 199, p=0,009) and percentage (20,0% vs 13,0%, p=0,03). 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=0.002) and for SMB ≤2% (OR 44.0 p=0.01). The estimated survival curves reached statistical significance respectively p=0.0001 and p=0.002.CONCLUSION: Among 22q11.2DS patients those with HA have characteristic lymphocytes anomalies that appear considerably before HA onset. Systematic immunophenotyping of 22q11.2DS patients at diagnosis is advisable for early identification of patients at risk for this severe complication.
U2 - 10.1016/j.jaip.2019.03.014
DO - 10.1016/j.jaip.2019.03.014
M3 - Article
C2 - 30922987
JO - Journal of Allergy and Clinical Immunology: In Practice
JF - Journal of Allergy and Clinical Immunology: In Practice
SN - 2213-2198
ER -