Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
Saettini, F., Fazio, G., Corti, P., Quadri, M., Bugarin, C., Gaipa, G., Penco, F., Moratto, D., Chiarini, M., Baronio, M., Gazzurelli, L., Imberti, L., Paghera, S., Giliani, S., Cazzaniga, G., Plebani, A., Badolato, R., Lougaris, V., Gattorno, M., Biondi, A.
Published in Clinical immunology (Orlando, Fla.) (01.09.2020)
Published in Clinical immunology (Orlando, Fla.) (01.09.2020)
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Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene
Masneri, S., Ferraro, R.M., Lanzi, G., Piovani, G., Mori, L., Barisani, C., Moratto, D., Plebani, A., Badolato, R., Soresina, A., Giliani, S.
Published in Stem cell research (01.12.2019)
Published in Stem cell research (01.12.2019)
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Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen
Saettini, F., Pelagatti, M.A., Sala, D., Moratto, D., Giliani, S., Badolato, R., Biondi, A.
Published in Immunology letters (01.10.2017)
Published in Immunology letters (01.10.2017)
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Aicardi–Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder?
Fazzi, Elisa, Cattalini, Marco, Orcesi, Simona, Tincani, Angela, Andreoli, L, Balottin, U, De Simone, M, Fredi, M, Facchetti, F, Galli, J, Giliani, S, Izzotti, A, Meini, A, Olivieri, I, Plebani, A
Published in Autoimmunity reviews (01.02.2013)
Published in Autoimmunity reviews (01.02.2013)
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Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation
PAI, S.-Y, DEMARTIIS, D, NOTARANGELO, L. D, MAZZOLARI, E, FORINO, C, CAVAGNINI, S, LANFRANCHI, A, GILIANI, S, MORATTO, D, MAZZA, C, PORTA, F, IMBERTI, L
Published in Bone marrow transplantation (Basingstoke) (01.11.2006)
Published in Bone marrow transplantation (Basingstoke) (01.11.2006)
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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome: Time to Review Diagnostic Criteria?
Buzi, F, Badolato, R, Mazza, C, Giliani, S, Notarangelo, Lucia D, Radetti, G, Plebani, A, Notarangelo, Luigi D
Published in The journal of clinical endocrinology and metabolism (01.07.2003)
Published in The journal of clinical endocrinology and metabolism (01.07.2003)
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Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency
Tampella, G, Baronio, M, Vitali, M, Soresina, A, Badolato, R, Giliani, S, Plebani, A, Lougaris, V
Published in Journal of investigational allergology & clinical immunology (2011)
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Published in Journal of investigational allergology & clinical immunology (2011)
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First report of successful stem cell transplantation in a child with CD40 deficiency
MAZZOLARI, E, LANZI, G, FORINO, C, LANFRANCHI, A, AKSU, G, OZTURK, C, GILIANI, S, NOTARANGELO, L. D, KUTUKCULER, N
Published in Bone marrow transplantation (Basingstoke) (01.08.2007)
Published in Bone marrow transplantation (Basingstoke) (01.08.2007)
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Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience
MAZZOLARI, E, MOSHOUS, D, PORTA, F, NOTARANGELO, L. D, FORINO, C, DE MARTIIS, D, OFFER, C, LANFRANCHI, A, GILIANI, S, IMBERTI, L, PASIC, S, UGAZIO, A. G
Published in Bone marrow transplantation (Basingstoke) (01.07.2005)
Published in Bone marrow transplantation (Basingstoke) (01.07.2005)
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Reversible Severe Combined Immunodeficiency Phenotype Secondary to a Mutation of the Proton-Coupled Folate Transporter
Borzutzky, A, Crompton, B, Neuwirth, A.K, Giliani, S, Neufeld, E.J, Notarangelo, L.D
Published in Journal of allergy and clinical immunology (01.02.2009)
Published in Journal of allergy and clinical immunology (01.02.2009)
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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Boisson, Bertrand, Laplantine, Emmanuel, Prando, Carolina, Giliani, Silvia, Israelsson, Elisabeth, Xu, Zhaohui, Abhyankar, Avinash, Israël, Laura, Trevejo-Nunez, Giraldina, Bogunovic, Dusan, Cepika, Alma-Martina, MacDuff, Donna, Chrabieh, Maya, Hubeau, Marjorie, Bajolle, Fanny, Debré, Marianne, Mazzolari, Evelina, Vairo, Donatella, Agou, Fabrice, Virgin, Herbert W, Bossuyt, Xavier, Rambaud, Caroline, Facchetti, Fabio, Bonnet, Damien, Quartier, Pierre, Fournet, Jean-Christophe, Pascual, Virginia, Chaussabel, Damien, Notarangelo, Luigi D, Puel, Anne, Israël, Alain, Casanova, Jean-Laurent, Picard, Capucine
Published in Nature immunology (01.12.2012)
Published in Nature immunology (01.12.2012)
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Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
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
Published in Human genetics (01.01.2000)
Published in Human genetics (01.01.2000)
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A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
STEFANINI, M, VERMEULEN, W, LEHMANN, A. R, WEEDA, G, GILIANI, S, NARDO, T, MEZZINA, M, SARASIN, A, HARPER, J. I, ARLETT, C. F, HOEIJMAKERS, J. H. J
Published in American journal of human genetics (01.10.1993)
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Published in American journal of human genetics (01.10.1993)
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Organization of the Human CD40L Gene: Implications for Molecular Defects in X Chromosome-Linked Hyper-IgM Syndrome and Prenatal Diagnosis
Villa, Anna, Notarangelo, Luigi D., Di Santo, James P., Macchi, Paolo P., Strina, Dario, Frattini, Annalisa, Lucchini, Franco, Patrosso, Cristina M., Giliani, Silvia, Mantuano, Elide, Agosti, Silvano, Nocera, Gianfranco, Kroczek, Richard A., Fischer, Alain, Ugazio, Alberto G., Genevieve de Saint Basile, Vezzoni, Paolo
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (15.03.1994)
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Prenatal diagnosis of JAK3 deficient SCID
Schumacher, R. F., Mella, P., Lalatta, F., Fiorini, M., Giliani, S., Villa, A., Candotti, F., Notarangelo, Luigi D.
Published in Prenatal diagnosis (01.07.1999)
Published in Prenatal diagnosis (01.07.1999)
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A boy with X‐linked hyper‐IgM syndrome and natural killer cell deficiency
ØSTENSTAD, B., GILIANI, S., MELLBYE, O. J., NILSEN, B. R., ABRAHAMSEN, T.
Published in Clinical and experimental immunology (01.02.1997)
Published in Clinical and experimental immunology (01.02.1997)
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Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
Giliani, S., Fiorini, M., Mella, P., Candotti, F., Schumacher, R. F., Wengler, G. S., Lalatta, F., Fasth, A., Badolato, R., Ugazio, A. G., Albertini, A., Notarangelo, L. D.
Published in Prenatal diagnosis (01.01.1999)
Published in Prenatal diagnosis (01.01.1999)
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Molecular, biochemical and immuno-cytochemical analysis in families with WAS/XLT
Giliani, S., Fiorini, M., Mella, P., Vermi, W., Franceschini, R., Imberti, L., Schumacher, R.F., Boe, F., Facchetti, F., Notarangelo, L.D.
Published in Molecular immunology (01.08.1998)
Published in Molecular immunology (01.08.1998)
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