TY - JOUR T1 - Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. JF - Clin Immunol Y1 - 2015 A1 - Lougaris, Vassilios A1 - Faletra, Flavio A1 - Lanzi, Gaetana A1 - Vozzi, Diego A1 - Marcuzzi, Annalisa A1 - Valencic, Erica A1 - Piscianz, Elisa A1 - Bianco, AnnaMonica A1 - Girardelli, Martina A1 - Baronio, Manuela A1 - Loganes, Claudia A1 - Fasth, Anders A1 - Salvini, Filippo A1 - Trizzino, Antonino A1 - Moratto, Daniele A1 - Facchetti, Fabio A1 - Giliani, Silvia A1 - Plebani, Alessandro A1 - Tommasini, Alberto KW - B-Lymphocytes KW - Child, Preschool KW - Female KW - Germinal Center KW - Humans KW - Hyper-IgM Immunodeficiency Syndrome KW - Infant KW - Male KW - Mutation KW - Phenotype KW - Phosphatidylinositol 3-Kinases KW - RNA Splice Sites KW - Sequence Analysis, DNA VL - 159 IS - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/25939554?dopt=Abstract ER - TY - JOUR T1 - Clinical features and follow-up in patients with 22q11.2 deletion syndrome. JF - J Pediatr Y1 - 2014 A1 - Cancrini, Caterina A1 - Puliafito, Pamela A1 - Digilio, Maria Cristina A1 - Soresina, Annarosa A1 - Martino, Silvana A1 - Rondelli, Roberto A1 - Consolini, Rita A1 - Ruga, Ezia Maria A1 - Cardinale, Fabio A1 - Finocchi, Andrea A1 - Romiti, Maria Luisa A1 - Martire, Baldassarre A1 - Bacchetta, Rosa A1 - Albano, Veronica A1 - Carotti, Adriano A1 - Specchia, Fernando A1 - Montin, Davide A1 - Cirillo, Emilia A1 - Cocchi, Guido A1 - Trizzino, Antonino A1 - Bossi, Grazia A1 - Milanesi, Ornella A1 - Azzari, Chiara A1 - Corsello, Giovanni A1 - Pignata, Claudio A1 - Aiuti, Alessandro A1 - Pietrogrande, Maria Cristina A1 - Marino, Bruno A1 - Ugazio, Alberto Giovanni A1 - Plebani, Alessandro A1 - Rossi, Paolo KW - Abnormalities, Multiple KW - Adolescent KW - Adult KW - Age Factors KW - Child KW - Child, Preschool KW - Chromosomes, Human, Pair 22 KW - Delayed Diagnosis KW - Developmental Disabilities KW - DiGeorge Syndrome KW - Disease Progression KW - Early Diagnosis KW - Female KW - Follow-Up Studies KW - Genetic Testing KW - Humans KW - Infant KW - Infant, Newborn KW - Male KW - Monitoring, Physiologic KW - Prospective Studies KW - Retrospective Studies KW - Risk Assessment KW - Severity of Illness Index KW - Sex Factors KW - Time Factors KW - Young Adult AB -

OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease.

STUDY DESIGN: A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis.

RESULTS: The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis.

CONCLUSIONS: Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

VL - 164 IS - 6 U1 - http://www.ncbi.nlm.nih.gov/pubmed/24657119?dopt=Abstract ER -