Výsledky vyhledávání - "Michaela, Calvillo"

Akademický článek

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Publikováno v: HemaSphere, Vol 7, Iss 3, p e845 (2023)

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder of lymphocyte homeostasis classically due to mutation of FAS, FASL, and CASP10 genes (ALPS-FAS/CASP10). Despite recent progress, about one-third of ALPS patients does not carry c

Externí odkaz: https://doaj.org/article/c43c1c5cbfe24a589e2d78a06dda00dd

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Akademický článek

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report

Autor: Francesco Baldo, Enrico Drago, Daniela Nisticò, Silvia Buratti, Michaela Calvillo, Concetta Micalizzi, Maria Cristina Schiaffino, Mohamad Maghnie

Publikováno v: Children, Vol 10, Iss 10, p 1602 (2023)

Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis, especially in countries where malnutrition is rare. We describe the case of a 5-year

Externí odkaz: https://doaj.org/article/f0b82a1a3d9d41cca7a48ff4750f0aa5

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Akademický článek

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Autor: Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

Publikováno v: Haematologica, Vol 103, Iss 3 (2018)

Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emer

Externí odkaz: https://doaj.org/article/645a48c864a24b94ab2661e56d7526c4

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Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept—A Case Report

Autor: Clara Malattia, Concetta Micalizzi, Michaela Calvillo, Marta Mazzoni, Angelo Ravelli, Alice Grossi, Elena Palmisani, Maurizio Miano, Stefania Viola, Erika Massaccesi, Francesca Fioredda, Daniela Guardo, Carlo Dufour, Paola Terranova, Isabella Ceccherini, Gianluca Dell'Orso

Publikováno v: Journal of Pediatric Hematology/Oncology. 43:e1168-e1172

Background Functional variants of the cytotoxic T-lymphocyte antigen-4 (CTLA4) could contribute to the pathogenesis of disorders characterized by abnormal T-cell responses. Case presentation We report a case of a 13-year-old girl who first presented

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae06f02fbed13fa35d415bcc1f5ca1c
https://doi.org/10.1097/mph.0000000000002120

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Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency

Autor: Francesca Fioredda, Concetta Micalizzi, Enrico Cappelli, Elena Palmisani, Michaela Calvillo, Serena Arrigo, Tiziana Lanza, Filomena Pierri, Isabella Ceccherini, Maurizio Miano, Rosario Maggiore, Maria C Coccia, Daniela Guardo, Andrea Beccaria, Alice Grossi, Carlo Dufour, Paola Terranova

Publikováno v: Journal of Pediatric Hematology/Oncology. 42:e768-e771

In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d5712d83b8335adbe6ce6db1792e780
https://doi.org/10.1097/mph.0000000000001708

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