Silvia Giliani

Overview

Best Publications

• Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

  P Macchi;A Villa;S Giliani;M G Sacco

  1041
  Citations

• Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

  Annalisa Frattini;Paul J. Orchard;Cristina Sobacchi;Silvia Giliani

  827
  Citations

• X-Linked Lymphoproliferative Disease 2b4 Molecules Displaying Inhibitory Rather than Activating Function Are Responsible for the Inability of Natural Killer Cells to Kill Epstein-Barr Virus–Infected Cells

  Silvia Parolini;Cristina Bottino;Michela Falco;Raffaella Augugliaro

  702
  Citations

• Partial V(D)J Recombination Activity Leads to Omenn Syndrome

  Anna Villa;Sandro Santagata;Fabio Bozzi;Silvia Giliani

  503
  Citations

• Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

  Bertrand Boisson;Emmanuel Laplantine;Carolina Prando;Silvia Giliani

  477
  Citations

• Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

  Simona Ferrari;Silvia Giliani;Antonella Insalaco;Abdulaziz Al-Ghonaium

  454
  Citations

• Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

  Daniele Moratto;Silvia Giliani;Carmem Bonfim;Evelina Mazzolari

  387
  Citations

• Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

  Yinzhu Jin;Cinzia Mazza;Cinzia Mazza;Cinzia Mazza;Jacinda R. Christie;Jacinda R. Christie;Jacinda R. Christie;Silvia Giliani;Silvia Giliani;Silvia Giliani

  372
  Citations

• In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)

  Georg S. Wengler;Arnalda Lanfranchi;Tiziana Frusca;Rosanna Verardi

  276
  Citations

• A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

  Gaetana Lanzi;Daniele Moratto;Donatella Vairo;Stefania Masneri

  220
  Citations

• Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

  Fabio Candotti;Scott A. Oakes;James A. Johnston;Silvia Giliani

  216
  Citations

• Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency

  Caroline Laffort;Françoise Le Deist;Françoise Le Deist;Michel Favre;Sophie Caillat-Zucman

  215
  Citations

• Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

  Silvia Giliani;Luigi Mori;Geneviève de Saint Basile;Francoise Le Deist

  214
  Citations

• Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect.

  Angela Gismondi;Loredana Cifaldi;Cinzia Mazza;Silvia Giliani

  181
  Citations

• Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

  Nicholas Hernandez;Isabelle Melki;Huie Jing;Tanwir Habib

  178
  Citations

• Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

  Rui Chen;Silvia Giliani;Gaetana Lanzi;George I. Mias

  171
  Citations

• Defective Expression of CD40 Ligand on T Cells Causes “X‐Linked Immunodeficiency with Hyper‐IgM (HIGM1)”

  Richard A. Kroczek;Daniel Graf;Duilio Brugnoni;Silvia Giliani

  159
  Citations

• IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

  Mike Recher;Lucinda J. Berglund;Lucinda J. Berglund;Danielle T. Avery;Morton J. Cowan

  157
  Citations

• CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

  Luigi D. Notarangelo;Manuel C. Peitsch;Tore G. Abrahamsen;Colette Bachelot

  145
  Citations

• A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.

  M. Stefanini;W. Vermeulen;G. Weeda;S. Giliani

  145
  Citations