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List of works by Silvia Giliani

4 Primary immunodeficiency mutation databases

article

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding ⬇️

scientific article published on March 3, 2011

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

scientific article published on 17 October 2020

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

scientific article published on 09 March 2022

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

scientific article

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

scientific article

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

scientific article published on 28 October 2011

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

scientific article published on 24 August 2018

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

scientific article

Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgM ⬇️

scientific article published on October 23, 2001

PAX1 is essential for development and function of the human thymus

scientific article published on 01 February 2020

Selective Laser Melting and Electron Beam Melting of Ti6Al4V for Orthopedic Applications: A Comparative Study on the Applied Building Direction

scientific article published on 07 December 2020

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