Search Results - "Mella, Patrizia"

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation by Jin, Yinzhu, Mazza, Cinzia, Christie, Jacinda R., Giliani, Silvia, Fiorini, Maurilia, Mella, Patrizia, Gandellini, Francesca, Stewart, Donn M., Zhu, Qili, Nelson, David L., Notarangelo, Luigi D., Ochs, Hans D.

“…The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema,…”
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Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency by Candotti, Fabio, Oakes, Scott A., Johnston, James A., Giliani, Silvia, Schumacher, Richard F., Mella, Patrizia, Fiorini, Maurilia, Ugazio, Alberto G., Badolato, Raffaele, Notarangelo, Luigi D., Bozzi, Fabio, Macchi, Paolo, Strina, Dario, Vezzoni, Paolo, Blaese, R. Michael, O'Shea, John J., Villa, Anna

“…Mutations of the Janus family kinase JAK3 have been found to be responsible for autosomal recessive severe combined immunodeficiency (SCID) in humans. We…”
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A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies by Wengler, Georg S., Parolini, Ornella, Fiorini, Maurilia, Mella, Patrizia, Smith, Hedy, Ugazio, Alberto G., Notarangelo, Luigi D.

“…The Wiskott-Aldrich syndrome (WAS), X-linked severe combined immunodeficiency (SCIDX1), and X-linked agammaglobulinemia (XLA) are severe congenital…”
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Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc-JAK3 signaling pathway as a model by Notarangelo, Luigi D., Giliani, Silvia, Mazza, Cinzia, Mella, Patrizia, Savoldi, Gianfranco, Rodriguez-Pérez, Carmen, Mazzolari, Evelina, Fiorini, Maurilia, Duse, Marzia, Plebani, Alessandro, Ugazio, Alberto G., Vihinen, Mauno, Candotti, Fabio, Schumacher, Richard F.

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A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome by Petkovic, Vibor, Eblé, Andrée, Pandey, Amit V, Betta, Marta, Mella, Patrizia, Flück, Christa E, Buzi, Fabio, Mullis, Primus E

“…Abstract Context and Objective Despite the differences in the main characteristics between the autosomal dominant form of GH deficiency (IGHD II) and the…”
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Acquired Hemophagocytic Syndrome in Patients with Lymphoma: Clinical and Molecular Features in 15 Patients of Western Origin by Motta, Marina, Bottelli, Chiara, Cattaneo, Chiara, Tabellini, Giovanna, Parolini, Silvia, Ungari, Marco, Facchetti, Fabio, Savoldi, Gianfranco, Mella, Patrizia, Rossi, Giuseppe

“…Background Hemophagocytic Lymphohystiocytosis (HLH) is a rare disorder, characterized by uncontrolled hyperinflammation, fever, cytopenias, hepatosplenomegaly…”
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Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency by Notarangelo, Luigi D., Mella, Patrizia, Jones, Alison, de Saint Basile, Genevieve, Savoldi, Gianfranco, Cranston, Treena, Vihinen, Mauno, Schumacher, Richard Fabian

“…During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in…”
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In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI) by Wengler, G S, Lanfranchi, A, Frusca, T, Verardi, R, Neva, A, Brugnoni, D, Giliani, S, Fiorini, M, Mella, P, Guandalini, F, Mazzolari, E, Pecorelli, S, Notarangelo, L D, Porta, F, Ugazio, A G

“…X-linked severe combined immunodeficiency (SCIDXI) is an inherited immune defect which leads to death in infancy from severe infections. The defect is caused…”
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Of genes and phenotypes : the immunological and molecular spectrum of combined immune deficiency. Defects of the γc-JAK3 signaling pathway as a model by NOTARANGELO, Luigi D, GILIANI, Silvia, UGAZIO, Alberto G, VIHINEN, Mauno, CANDOTTI, Fabio, SCHUMACHER, Richard F, MAZZA, Cinzia, MELLA, Patrizia, SAVOLDI, Gianfranco, RODRIGUEZ-PEREZ, Carmen, MAZZOLARI, Evelina, FIORINI, Maurilia, DUSE, Marzia, PLEBANI, Alessandro

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Cytokine-mediated signalling and early defects in lymphoid development by Giliani, Silvia, Mella, Patrizia, Savoldi, Gianfranco, Mazzolari, Evelina

“…PURPOSE OF REVIEWThe aim of the review is to report on recent advances in cytokine-mediated signalling, as illustrated by the study of natural human mutants…”
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Growth hormone receptor polymorphisms by Buzi, Fabio, Mella, Patrizia, Pilotta, Alba, Prandi, Elena, Lanfranchi, Fabiana, Carapella, Teresa

“…Many variables influence the outcome of growth hormone (GH) therapy (GH dose and duration, height - SDS at treatment start or at puberty onset, bone age, mid…”
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Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain by Mella, Patrizia, Schumacher, Richard Fabian, Cranston, Treena, de Saint Basile, Genevieve, Savoldi, Gianfranco, Notarangelo, Luigi D.

“…Defects of the JAK3‐gene are known to cause an autosomal recessive form of severe combined immunodeficiency with almost absent T‐cells and functionally…”
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Development of Autologous T Lymphocytes in Two Males with X-Linked Severe Combined Immune Deficiency: Molecular and Cellular Characterization by Mella, Patrizia, Imberti, Luisa, Brugnoni, Duilio, Pirovano, Silvia, Candotti, Fabio, Mazzolari, Evelina, Bettinardi, Alessandra, Fiorini, Maurilia, De Mattia, Domenico, Martire, Baldassarre, Plebani, Alessandro, Notarangelo, Luigi D., Giliani, Silvia

“…We report on two patients affected with severe combined immune deficiency (SCID) with an unusual immunological phenotype and a substantial number of…”
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High Prevalence of Nonsense, Frame Shift, and Splice-Site Mutations in 16 Patients With Full-Blown Wiskott-Aldrich Syndrome by Wengler, Georg S., Notarangelo, Luigi D., Berardelli, Stefania, Pollonni, Gabriella, Mella, Patrizia, Fasth, Anders, Ugazio, Alberto G., Parolini, Ornella

“…Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by immunodeficiency, thrombocytopenia, and severe eczema. WAS is…”
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Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism by SCHUMACHER, R. F, MELLA, P, NOTARANGELO, L. D, BADOLATO, R, FIORINI, M, SAVOLDI, G, GILIANI, S, VILLA, A, CANDOTTI, F, TAMPALINI, A, O'SHEA, J. J

“…JAK3 deficiency in humans results in autosomal recessive T-B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured…”
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Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase by Brugnoni, Duilio, Notarangelo, Luigi D., Sottini, Alessandra, Airò, Paolo, Pennacchio, Marta, Mazzolari, Evelina, Signorini, Simona, Candotti, Fabio, Villa, Anna, Mella, Patrizia, Vezzoni, Paolo, Cattaneo, Roberto, Ugazio, Alberto G., Imberti, Luisa

“…Defects of the common gamma chain subunit of the cytokine receptors (γc) or of Jak3, a tyrosine kinase required for γc signal transduction, result in T−B+…”
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Molecular Modeling of the Jak3 Kinase Domains and Structural Basis for Severe Combined Immunodeficiency by Vihinen, Mauno, Villa, Anna, Mella, Patrizia, Schumacher, R.Fabian, Savoldi, Gianfranco, O'Shea, John J., Candotti, Fabio, Notarangelo, Luigi D.

“…Hereditary severe combined immunodeficiency (SCID) includes a heterogeneous group of diseases that profoundly affect both cellular and humoral immune responses…”
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Development of Autologous, Oligoclonal, Poorly Functioning T Lymphocytes in a Patient With Autosomal Recessive Severe Combined Immunodeficiency Caused by Defects of the Jak3 Tyrosine Kinase by Brugnoni, Duilio, Notarangelo, Luigi D., Sottini, Alessandra, Airò, Paolo, Pennacchio, Marta, Mazzolari, Evelina, Signorini, Simona, Candotti, Fabio, Villa, Anna, Mella, Patrizia, Vezzoni, Paolo, Cattaneo, Roberto, Ugazio, Alberto G., Imberti, Luisa

“…Defects of the common gamma chain subunit of the cytokine receptors (γc) or of Jak3, a tyrosine kinase required for γc signal transduction, result in T−B+…”
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X-Chromosome Inactivation and Mutation Pattern in the Bruton’s Tyrosine Kinase Gene in Patients with X-linked Agammaglobulinemia by Moschese, Viviana, Orlandi, Paola, Plebani, Alessandro, Arvanitidis, Konstantinos, Fiorini, Maurilia, Speletas, Matthaios, Mella, Patrizia, Ritis, Kostas, Sideras, Paschalis, Finocchi, Andrea, Livadiotti, Susanna, Rossi, Paolo

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Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1) by Wengler, Georg S., Giliani, Silvia, Fiorini, Maurilia, Mella, Patrizia, Mantuano, Elide, Zanola, Alessandra, Pollonini, Gabriella, Eibl, Martha M., Ugazio, Alberto G., Notarangelo, Luigi D., Parolini, Ornella

“…X‐linked severe combined immunodeficiency (SCIDX1) is an inherited disease characterized by profound abnormalities of cell‐mediated and humoral immunity…”
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