%0 Journal Article %J Am J Hematol %D 2019 %T Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry. %A Farruggia, Piero %A Fioredda, Francesca %A Puccio, Giuseppe %A Onofrillo, Daniela %A Russo, Giovanna %A Barone, Angelica %A Bonanomi, Sonia %A Boscarol, Gianluca %A Finocchi, Andrea %A Ghilardi, Roberta %A Giordano, Paola %A Ladogana, Saverio %A Lassandro, Giuseppe %A Luti, Laura %A Lanza, Tiziana %A Mandaglio, Rosalba %A Marra, Nicoletta %A Martire, Baldassare %A Mastrodicasa, Elena %A Motta, Milena %A Notarangelo, Lucia Dora %A Pillon, Marta %A Porretti, Laura %A Serafinelli, Jessica %A Trizzino, Angela %A Tucci, Fabio %A Veltroni, Marinella %A Verzegnassi, Federico %A Ramenghi, Ugo %A Dufour, Carlo %X

Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4-5 years of age; it is due to auto-antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induced, or congenital neutropenia, according to the Italian guidelines the patients will be defined as affected by "idiopathic neutropenia" (IN). We describe the characteristics of 85 IN patients enrolled in the Italian neutropenia registry: they were compared with 336 children affected by AIN. The 2 groups were clinically very similar and the main differences were detection age (later in IN), length of disease (longer in IN) and, among recovered patients, age of spontaneous recovery: the median age at resolution was 2.13 years in AINs and 3.03 years in INs (P = .00002). At bivariate analysis among AIN patients earlier detection age (P = .00013), male sex (P = .000748), absence of leucopenia (P = .0045), and absence of monocytosis (P = .0419) were significantly associated with earlier recovery; in the IN group only detection age (P = .013) and absence of monocytosis (P = .0333) were significant. At multivariate analysis detection age and absence of monocytosis were independently significant (P = 6.7e-05 and 4.4e-03, respectively) in the AIN group, whereas in the IN group only detection age stayed significant (P = .013).

%B Am J Hematol %V 94 %P 216-222 %8 2019 Feb %G eng %N 2 %1 http://www.ncbi.nlm.nih.gov/pubmed/30456824?dopt=Abstract %R 10.1002/ajh.25353 %0 Journal Article %J Am J Hematol %D 2017 %T Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry. %A Farruggia, Piero %A Puccio, Giuseppe %A Fioredda, Francesca %A Lanza, Tiziana %A Porretti, Laura %A Ramenghi, Ugo %A Barone, Angelica %A Bonanomi, Sonia %A Finocchi, Andrea %A Ghilardi, Roberta %A Ladogana, Saverio %A Marra, Nicoletta %A Martire, Baldassare %A Notarangelo, Lucia Dora %A Onofrillo, Daniela %A Pillon, Marta %A Russo, Giovanna %A Lo Valvo, Laura %A Serafinelli, Jessica %A Tucci, Fabio %A Zunica, Fiammetta %A Verzegnassi, Federico %A Dufour, Carlo %K Autoimmune Diseases %K Child %K Disease Susceptibility %K Female %K Humans %K Immunoglobulins, Intravenous %K Immunosuppressive Agents %K Infant, Newborn %K Infant, Premature %K Infant, Premature, Diseases %K Italy %K Male %K Neutropenia %K Prevalence %K Registries %B Am J Hematol %V 92 %P E546-E549 %8 2017 Sep %G eng %N 9 %1 http://www.ncbi.nlm.nih.gov/pubmed/28567966?dopt=Abstract %R 10.1002/ajh.24803 %0 Journal Article %J J Pediatr %D 2014 %T Clinical features and follow-up in patients with 22q11.2 deletion syndrome. %A Cancrini, Caterina %A Puliafito, Pamela %A Digilio, Maria Cristina %A Soresina, Annarosa %A Martino, Silvana %A Rondelli, Roberto %A Consolini, Rita %A Ruga, Ezia Maria %A Cardinale, Fabio %A Finocchi, Andrea %A Romiti, Maria Luisa %A Martire, Baldassarre %A Bacchetta, Rosa %A Albano, Veronica %A Carotti, Adriano %A Specchia, Fernando %A Montin, Davide %A Cirillo, Emilia %A Cocchi, Guido %A Trizzino, Antonino %A Bossi, Grazia %A Milanesi, Ornella %A Azzari, Chiara %A Corsello, Giovanni %A Pignata, Claudio %A Aiuti, Alessandro %A Pietrogrande, Maria Cristina %A Marino, Bruno %A Ugazio, Alberto Giovanni %A Plebani, Alessandro %A Rossi, Paolo %K Abnormalities, Multiple %K Adolescent %K Adult %K Age Factors %K Child %K Child, Preschool %K Chromosomes, Human, Pair 22 %K Delayed Diagnosis %K Developmental Disabilities %K DiGeorge Syndrome %K Disease Progression %K Early Diagnosis %K Female %K Follow-Up Studies %K Genetic Testing %K Humans %K Infant %K Infant, Newborn %K Male %K Monitoring, Physiologic %K Prospective Studies %K Retrospective Studies %K Risk Assessment %K Severity of Illness Index %K Sex Factors %K Time Factors %K Young Adult %X

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.

%B J Pediatr %V 164 %P 1475-80.e2 %8 2014 Jun %G eng %N 6 %1 http://www.ncbi.nlm.nih.gov/pubmed/24657119?dopt=Abstract %R 10.1016/j.jpeds.2014.01.056