Search Results - "Mannurita, Sara Ciullini"

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome by Gambineri, Eleonora, Ciullini Mannurita, Sara, Hagin, David, Vignoli, Marina, Anover-Sombke, Stephanie, DeBoer, Stacey, Segundo, Gesmar R S, Allenspach, Eric J, Favre, Claudio, Ochs, Hans D, Torgerson, Troy R

“…Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the gene. In addition,…”
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Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies by Kuehn, Hye Sun, Niemela, Julie E., Stoddard, Jennifer, Mannurita, Sara Ciullini, Shahin, Tala, Goel, Shubham, Hintermeyer, Mary, Heredia, Raul Jimenez, Garofalo, Mary, Lucas, Laura, Singh, Smriti, Tondo, Annalisa, Jacobs, Zachary, Gahl, William A., Latour, Sylvain, Verbsky, James, Routes, John, Cunningham-Rundles, Charlotte, Boztug, Kaan, Gambineri, Eleonora, Fleisher, Thomas A., Chandrakasan, Shanmuganathan, Rosenzweig, Sergio D.

“…IKAROS is a transcription factor forming homo- and heterodimers and regulating lymphocyte development and function. Germline mutations affecting the IKAROS…”
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CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface by Vignoli, Marina, Ciullini Mannurita, Sara, Fioravanti, Antonella, Tumino, Manuela, Grassi, Alessia, Guariso, Graziella, Favre, Claudio, D'Elios, Mario M., Gambineri, Eleonora

“…CD25 deficiency is a very rare autosomal recessive disorder that shows a clinical phenotype highly overlapping IPEX syndrome with an increased susceptibility…”
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A Rare Onset of T-Lymphoid Blast Crisis in Chronic Myeloid Leukemia with Two Distinct Blast Populations by Mongia, Alessandra, Romano, Francesca, Ciullini Mannurita, Sara, Peruzzi, Benedetta, Bencini, Sara, Parrini, Daniela, Fasano, Laura, Fanelli, Alessandra

“…Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by bone marrow expansion and the proliferation of one or more myeloid cell…”
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Timely follow-up of a GATA2 deficiency patient allows successful treatment by Ciullini Mannurita, Sara, MSc, Vignoli, Marina, PhD, Colarusso, Gloria, MD, PhD, Tucci, Fabio, MD, Veltroni, Marinella, MD, Frenos, Stefano, MD, Tintori, Veronica, MD, Aricò, Maurizio, MD, Bigley, Venetia, MD, PhD, Collin, Matthew, MD, PhD, Favre, Claudio, MD, Gambineri, Eleonora, MD

“…[...]because of the onset of MDS, at age 9 years, he underwent hematopoietic stem cell transplant from his HLA-matched (GATA2 wild-type) brother. Cytogenetic…”
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Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation by Gambineri, Eleonora, MD, Ciullini Mannurita, Sara, MSc, Robertson, Helen, PhD, Vignoli, Marina, PhD, Haugk, Beate, MD, Lionetti, Paolo, MD, PhD, Hambleton, Sophie, MD, PhD, Barge, Dawn, PhD, Gennery, Andrew R., MD, Slatter, Mary, MD, Nademi, Zohreh, MD, Flood, Terence J., MD, Jackson, Anthony, PhD, Abinun, Mario, MD, Cant, Andrew J., MD

“…The identified FOXP3 gene mutation was associated with a reduced protein expression in Treg cells (Figs E1 and E2 available in this article's Online Repository…”
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Rapid complete blood count and C-reactive protein determination with the Horiba Microsemi analyzer: the experience in neonatal intensive care unit of Careggi University Hospital by Nencini, Francesca, Bonari, Alessandro, Romano, Francesca, Ciullini Mannurita, Sara, Mongia, Alessandra, Garieri, Maria, Dani, Carlo, Manzo, Orazio, Pontieri, Maria, Fanelli, Alessandra

“…Microsystems represent an alternative but proficient approach of analysis outside the laboratory, and their use could help in reducing the impact of…”
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RNA-binding proteins ZFP36L1 and ZFP36L2 promote cell quiescence by Galloway, Alison, Saveliev, Alexander, Łukasiak, Sebastian, Hodson, Daniel J., Bolland, Daniel, Balmanno, Kathryn, Ahlfors, Helena, Monzón-Casanova, Elisa, Mannurita, Sara Ciullini, Bell, Lewis S., Andrews, Simon, Díaz-Muñoz, Manuel D., Cook, Simon J., Corcoran, Anne, Turner, Martin

“…Progression through the stages of lymphocyte development requires coordination of the cell cycle. Such coordination ensures genomic integrity while cells…”
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Atypical Presentations of IPEX: Expect the Unexpected by Consonni, Filippo, Ciullini Mannurita, Sara, Gambineri, Eleonora

“…Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder that has become a model of monogenic autoimmunity. IPEX…”
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort by Ciullini Mannurita, Sara, Vignoli, Marina, Bianchi, Lucia, Kondi, Anuela, Gerloni, Valeria, Breda, Luciana, ten Cate, Rebecca, Alessio, Maria, Ravelli, Angelo, Falcini, Fernanda, Gambineri, Eleonora

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Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity by Goudy, Kevin, Aydin, Didem, Barzaghi, Federica, Gambineri, Eleonora, Vignoli, Marina, Mannurita, Sara Ciullini, Doglioni, Claudio, Ponzoni, Maurilio, Cicalese, Maria Pia, Assanelli, Andrea, Tommasini, Alberto, Brigida, Immacolata, Dellepiane, Rosa Maria, Martino, Silvana, Olek, Sven, Aiuti, Alessandro, Ciceri, Fabio, Roncarolo, Maria Grazia, Bacchetta, Rosa

“…Abstract Cell-surface CD25 expression is critical for maintaining immune function and homeostasis. As in few reported cases, CD25 deficiency manifests with…”
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Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study by Schiavo, Ebe, Martini, Beatrice, Attardi, Enrico, Consonni, Filippo, Ciullini Mannurita, Sara, Coniglio, Maria Luisa, Tellini, Marco, Chiocca, Elena, Fotzi, Ilaria, Luti, Laura, D'Alba, Irene, Veltroni, Marinella, Favre, Claudio, Gambineri, Eleonora

“…Inborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of clinical manifestations, ranging from increased susceptibility to…”
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort by Ciullini Mannurita, Sara, Vignoli, Marina, Bianchi, Lucia, Kondi, Anuela, Gerloni, Valeria, Breda, Luciana, Ten Cate, Rebecca, Alessio, Maria, Ravelli, Angelo, Falcini, Fernanda, Gambineri, Eleonora

“…Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for…”
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β3-Adrenoceptors as Putative Regulator of Immune Tolerance in Cancer and Pregnancy by Calvani, Maura, Dabraio, Annalisa, Subbiani, Angela, Buonvicino, Daniela, De Gregorio, Veronica, Ciullini Mannurita, Sara, Pini, Alessandro, Nardini, Patrizia, Favre, Claudio, Filippi, Luca

“…Understanding the mechanisms of immune tolerance is currently one of the most important challenges of scientific research. Pregnancy affects the immune system…”
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The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies by Tsuda, Masanobu, Torgerson, Troy R, Selmi, Carlo, Gambineri, Eleonora, Carneiro-Sampaio, Magda, Mannurita, Sara Ciullini, Leung, Patrick S.C, Norman, Gary L, Gershwin, M. Eric

“…Abstract IPEX syndrome is a congenital disorder of immune regulation caused by mutations in the FOXP3 gene, which is required for the suppressive function of…”
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Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia by Ciullini Mannurita, Sara, Goda, Rayan, Schiavo, Ebe, Coniglio, Maria Luisa, Azzali, Annachiara, Fotzi, Ilaria, Tondo, Annalisa, Tintori, Veronica, Frenos, Stefano, Sanvito, Maria Chiara, Vignoli, Marina, Luceri, Cristina, Bigagli, Elisabetta, Grassi, Alessia, D'Elios, Mario Milco, Favre, Claudio, Gambineri, Eleonora

“…gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of…”
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Preliminary Study on β3-Adrenoreceptor as Predictor Marker of Relapse in Ewing Sarcoma Patients by Calvani, Maura, Vignoli, Marina, Beltrami, Giovanni, Pasha, Amada, Scalini, Perla, Mannurita, Sara Ciullini, Cardellicchio, Stefania, Coccoli, Luca, Cecchi, Cecilia, De Marco, Emanuela, Luti, Laura, Bernasconi, Sayla, Filippi, Luca, Casazza, Gabriella, Tamburini, Angela, Favre, Claudio

“…Ewing sarcoma (EWS) is a paediatric aggressive malignant tumour of bones and soft tissues. Multidisciplinary chemotherapies, surgical resection, and radiation…”
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Novel molecular defects associated with very early-onset inflammatory bowel by Ciullini Mannurita, Sara, Gambineri, Eleonora

“…PURPOSE OF REVIEWImmune dysregulation disorders present with common clinical features of multiorgan autoimmunity. Gastrointestinal involvement is the hallmark…”
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β3-adrenergic receptor on tumor-infiltrating lymphocytes sustains IFN-γ-dependent PD-L1 expression and impairs anti-tumor immunity in neuroblastoma by Bruno, Gennaro, Nastasi, Nicoletta, Subbiani, Angela, Boaretto, Alessia, Ciullini Mannurita, Sara, Mattei, Gianluca, Nardini, Patrizia, Della Bella, Chiara, Magi, Alberto, Pini, Alessandro, De Marco, Emanuela, Tondo, Annalisa, Favre, Claudio, Calvani, Maura

“…Neuroblastoma (NB) is a heterogeneous extracranial tumor occurring in childhood. A distinctive feature of NB tumors is their neuroendocrine ability to secrete…”
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Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome by Mannurita, Sara Ciullini, Vignoli, Marina, Bianchi, Lucia, de Martino, Maurizio, Azzari, Chiara, Falcini, Fernanda, Gambineri, Eleonora

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