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Your search keyword '"Favre, Claudio"' showing total 11 results
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11 results on '"Favre, Claudio"'

1. Approaching hemophagocytic lymphohistiocytosis

Author

Chinnici, Aurora, primary, Beneforti, Linda, additional, Pegoraro, Francesco, additional, Trambusti, Irene, additional, Tondo, Annalisa, additional, Favre, Claudio, additional, Coniglio, Maria Luisa, additional, and Sieni, Elena, additional

Published
2023
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5. Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study

Author

Schiavo, Ebe, primary, Martini, Beatrice, additional, Attardi, Enrico, additional, Consonni, Filippo, additional, Ciullini Mannurita, Sara, additional, Coniglio, Maria Luisa, additional, Tellini, Marco, additional, Chiocca, Elena, additional, Fotzi, Ilaria, additional, Luti, Laura, additional, D’Alba, Irene, additional, Veltroni, Marinella, additional, Favre, Claudio, additional, and Gambineri, Eleonora, additional

Published
2022
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8. Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia

Author

Ciullini Mannurita, Sara, primary, Goda, Rayan, additional, Schiavo, Ebe, additional, Coniglio, Maria Luisa, additional, Azzali, Annachiara, additional, Fotzi, Ilaria, additional, Tondo, Annalisa, additional, Tintori, Veronica, additional, Frenos, Stefano, additional, Sanvito, Maria Chiara, additional, Vignoli, Marina, additional, Luceri, Cristina, additional, Bigagli, Elisabetta, additional, Grassi, Alessia, additional, D’Elios, Mario Milco, additional, Favre, Claudio, additional, and Gambineri, Eleonora, additional

Published
2021
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10. Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Author

Gambineri, Eleonora, primary, Ciullini Mannurita, Sara, additional, Hagin, David, additional, Vignoli, Marina, additional, Anover-Sombke, Stephanie, additional, DeBoer, Stacey, additional, Segundo, Gesmar R. S., additional, Allenspach, Eric J., additional, Favre, Claudio, additional, Ochs, Hans D., additional, and Torgerson, Troy R., additional

Published
2018
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11. Case Report: Clinical and Hematological Characteristics of ε γδβ Thalassemia in an Italian Patient.

Author

Fotzi I, Pegoraro F, Chiocca E, Casini T, Mogni M, Veltroni M, and Favre C

Abstract

Introduction: ε γδβ thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease and its heterogeneous clinical presentation. Most patients have neonatal microcytic anemia, sometimes requiring in utero and/or neonatal transfusions, and typically improving with age., Case Description: We report on an Italian newborn presenting with severe neonatal anemia that required red blood cell transfusion. After the first months of life, hemoglobin levels improved with residual very low mean corpuscular volume. β and α thalassemia, IRIDA syndrome, and sideroblastic anemia were excluded. Finally, a diagnosis of ε γδβ thalassemia was made after microarray analysis of single nucleotide polymorphisms revealed a 26 kb single copy loss of chromosome 11p15.4, including the HBD, HBBP1, HBG1, and HBB genes., Conclusions: Despite its rarity, the diagnosis of ε γδβ thalassemia should be considered in newborns with severe neonatal anemia requiring in utero and/or neonatal transfusions, but also in older infants with microcytic anemia, after excluding more prevalent red blood cell disorders., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Fotzi, Pegoraro, Chiocca, Casini, Mogni, Veltroni and Favre.)

Published
2022
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