@article {10809, title = {Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.}, journal = {J Clin Immunol}, volume = {37}, year = {2017}, month = {2017 Oct}, pages = {701-706}, abstract = {

PURPOSE: Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18~months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes.

METHODS: The patient, who had suffered multiple life-threatening mycobacterial and viral infections in the first years of life, underwent HSCT at 4~years of age from a partially matched (HLA compatibility 8/10) unrelated donor after a myeloablative conditioning regimen consisting of busulfan, cyclophosphamide, and anti-thymocyte globulin.

RESULTS: Hematological reconstitution was detected at d+15, with full donor engraftment demonstrated by molecular analysis of leukocytes. Several complications occurred in the post-transplantation phase, including acute graft versus host disease, posterior reversible encephalopathy, thrombotic thrombocytopenic purpura, bilateral keratoconjunctivitis with complete loss of vision, and chronic lower limb lymphedema. Analysis of STAT1 in CD3 cells at 90 and 120~days after HSCT by flow cytometry showed normal STAT1 phosphorylation levels in response to IFN-α.

CONCLUSIONS: Notably, no severe infections occurred after discharge (day + 90) during a 9-year follow-up, suggesting that normal response to IFNs in hematopoietic cells is sufficient to provide protection in humans.

}, keywords = {Child, Preschool, Hematopoietic Stem Cell Transplantation, Humans, Immunologic Deficiency Syndromes, Male, STAT1 Transcription Factor, Treatment Outcome}, issn = {1573-2592}, doi = {10.1007/s10875-017-0430-6}, author = {Naviglio, Samuele and Soncini, Elena and Vairo, Donatella and Lanfranchi, Arnalda and Badolato, Raffaele and Porta, Fulvio} } @article {1822, title = {Foreign children with cancer in Italy.}, journal = {Ital J Pediatr}, volume = {37}, year = {2011}, month = {2011}, pages = {44}, abstract = {

BACKGROUND: There has been a noticeable annual increase in the number of children coming to Italy for medical treatment, just like it has happened in the rest of the European Union. In Italy, the assistance to children suffering from cancer is assured by the current network of 54 centres members of the Italian Association of Paediatric Haematology and Oncology (AIEOP), which has kept records of all demographic and clinical data in the database of Mod.1.01 Registry since 1989.

METHODS: We used the information stored in the already mentioned database to assess the impact of immigration of foreign children with cancer on centres{\textquoteright} activity, with the scope of drawing a map of the assistance to these cases.

RESULTS: Out of 14,738 cases recorded by all centres in the period from 1999 to 2008, 92.2\% were born and resident in Italy, 4.1\% (608) were born abroad and living abroad and 3.7\% (538) were born abroad and living in Italy. Foreign children cases have increased over the years from 2.5\% in 1999 to. 8.1\% in 2008.Most immigrant children came from Europe (65.7\%), whereas patients who came from America, Asia and Oceania amounted to 13.2\%, 10.1\%, 0.2\%, respectively. The immigrant survival rate was lower compared to that of children who were born in Italy. This is especially true for acute lymphoblastic leukaemia patients entered an AIEOP protocol, who showed a 10-years survival rate of 71.0\% vs. 80.7\% (p < 0.001) for immigrants and patients born in Italy, respectively.

CONCLUSIONS: Children and adolescents are an increasingly important part of the immigration phenomenon, which occurs in many parts of the world. In Italy the vast majority of children affected by malignancies are treated in AIEOP centres. Since immigrant children are predominantly treated in northern Italy, these centres have developed a special expertise in treating immigrant patients, which is certainly very useful for the entire AIEOP network.

}, keywords = {Adolescent, Africa, Asia, Child, Child, Preschool, Databases, Factual, Emigrants and Immigrants, Ethnic Groups, Europe, Eastern, European Union, Female, Humans, Incidence, Infant, Infant, Newborn, Italy, Male, Neoplasms, North America, Oceania, Prevalence, Retrospective Studies, South America, Survival Rate}, issn = {1824-7288}, doi = {10.1186/1824-7288-37-44}, author = {Rondelli, Roberto and Dini, Giorgio and De Rosa, Marisa and Quarello, Paola and Bisogno, Gianni and Aric{\`o}, Maurizio and Vasconcelos, Carivaldo and Tamaro, Paolo and Casazza, Gabriella and Zecca, Marco and De Laurentis, Clementina and Porta, Fulvio and Pession, Andrea} }