S. Giliani

发表

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

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Alain Laederach, Silvia Giliani, Luigi D Notarangelo, 2014, Human molecular genetics.

Autonomous role of Wiskott‐Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation

L. Notarangelo, S. Giliani, S. Mantero, 2018, The Journal of allergy and clinical immunology.

Severe Combined Immunodeficiency in Greek Children over a 20-Year Period

S. Giliani, G. Chrousos, A. Villa, 2011, Journal of Clinical Immunology.

Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

S. Giliani, A. Villa, M. L. Cavaliere, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

A. Villa, J. Johnston, L. Notarangelo, 1997, Blood.

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

Massimo Marconi, Yves Levy, Abdelghani Tbakhi, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Primary immunodeficiency mutation databases.

M Vihinen, A Etzioni, K. Schwarz, 2001, Advances in genetics.

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

L. Notarangelo, S. Giliani, A. Villa, 2000, Nature Genetics.

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

L. Notarangelo, H. Ochs, S. Giliani, 2000 .

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

L. Notarangelo, R. Geha, J. Chou, 2015, The Journal of allergy and clinical immunology.

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

Sandro Santagata, Paolo Vezzoni, Silvia Giliani, 1998, Cell.

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

J. Ziegler, L. Notarangelo, J. Walter, 2011, Blood.

The genomic organization of the human transcription factor 3 (TFE3) gene.

A. Villa, L. Notarangelo, S. Giliani, 1995, Genomics.

Aerosol Jet® Printing of Poly(3,4-Ethylenedioxythiophene): Poly(Styrenesulfonate) onto Micropatterned Substrates for Neural Cells In Vitro Stimulation

S. Giliani, E. Ceretti, E. Ferraris, 2022, International journal of bioprinting.

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

S. Giliani, A. Villa, M. Mostarica‐Stojković, 2014, Journal of Clinical Immunology.

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

L. Notarangelo, S. Giliani, A. Santoni, 2013 .

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

L. Notarangelo, S. Giliani, A. Santoni, 2004, Blood.

Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies.

G. Daley, J. Casanova, L. Notarangelo, 2011, The Journal of allergy and clinical immunology.

thrombocytopenia Missense mutations of the WASP gene cause intermittent X-linked

L. Notarangelo, H. Ochs, S. Giliani, 2013 .

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

L. Notarangelo, H. Ochs, S. Giliani, 2011 .

The Wiskott–Aldrich syndrome: from genotype–phenotype correlation to treatment

L. Notarangelo, S. Giliani, L. Notarangelo, 2007, Expert review of clinical immunology.

Omenn syndrome in an infant with IL7RA gene mutation.

A. Fischer, L. Notarangelo, S. Giliani, 2006, The Journal of pediatrics.

When a Nontuberculous Mycobacterial Infection Reveals an Error of Immunity

L. Dotta, V. Lougaris, A. Plebani, 2022, The Pediatric infectious disease journal.

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation

R. Badolato, S. Giliani, S. Orcesi, 2021, Frontiers in Pediatrics.

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

S. Giliani, J. Hoeijmakers, W. Vermeulen, 1993, American journal of human genetics.

X-Linked Lymphoproliferative Disease

L. Notarangelo, H. Ochs, S. Giliani, 2000, The Journal of experimental medicine.

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

J. Casanova, L. Dotta, R. Badolato, 2020, Frontiers in Immunology.

Biocompatibility evaluation of encapsulated silver-based printed circuits for in-vitro long-term sensing devices

S. Giliani, E. Ceretti, E. Ferraris, 2022, Procedia CIRP.

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

L. Notarangelo, A. Plebani, R. Geha, 2012, The Journal of experimental medicine.

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus

V. Lougaris, S. Choo, Joanne M. Smart, 2012, The Journal of experimental medicine.

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.

L. Notarangelo, A. Plebani, R. Badolato, 2011, Blood.

A boy with X‐linked hyper‐IgM syndrome and natural killer cell deficiency

S. Giliani, B. Østenstad, O. Mellbye, 1997, Clinical and experimental immunology.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J. Casanova, L. Notarangelo, F. Frugoni, 2016, The Journal of allergy and clinical immunology.

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

D. Lazarević, C. Pignata, S. Giliani, 2019, Front. Immunol..

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

S. Giliani, A. Lehmann, A. Sarasin, 1993, Carcinogenesis.

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

S. Giliani, M. Stefanini, T. Nardò, 1992, Mutation research.

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.

S. Giliani, J. Arrand, A. Lehmann, 1994, Mutation research.

Xeroderma pigmentosum complementation group H falls into complementation group D.

S. Giliani, J. Hoeijmakers, W. Vermeulen, 1991, Mutation research.

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.

L. Notarangelo, R. Geha, W. Al-Herz, 2011, The Journal of allergy and clinical immunology.

Cytokine-mediated signalling and early defects in lymphoid development

S. Giliani, E. Mazzolari, P. Mella, 2005, Current opinion in allergy and clinical immunology.

Mechanisms of primary immunodeficiencies: from bed-side to bench and back

L. Notarangelo, S. Giliani, E. Mazzolari, 2004 .

Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output.

L. Notarangelo, S. Giliani, A. Ugazio, 2004, Haematologica.

Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.

V. Lougaris, A. Plebani, R. Badolato, 2011, Journal of investigational allergology & clinical immunology.

Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene

S. Giliani, P. Palma, C. Cancrini, 2020, Journal of leukocyte biology.

Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.

R. Badolato, S. Giliani, A. Biondi, 2017, Immunology Letters.

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease.

S. Giliani, M. Bramuzzo, G. Decorti, 2019, Stem cell research.

Flavia splicing mutation STAT 1 a novel responses in cells of a patient with α and IFN-γ Severe impairment of IFN

L. Notarangelo, A. Plebani, R. Badolato, 2011 .

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

L. Notarangelo, S. Giliani, A. Ugazio, 1994, Immunological reviews.

hypomorphic RAG mutations Lack of iNKT cells in patients with combined immune deficiency due to

L. Notarangelo, S. Giliani, D. Umetsu, 2013 .

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

M. Chiarini, V. Lougaris, A. Plebani, 2020, Journal of clinical medicine.

Mutation analysis by a non‐radioactive single‐strand conformation polymorphism assay in nine families with X‐linked severe combined immunodeficiency (SCIDX1)

L. Notarangelo, S. Giliani, A. Ugazio, 1998, British journal of haematology.

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc‐JAK3 signaling pathway as a model

M. Vihinen, L. Notarangelo, A. Plebani, 2000, Immunological reviews.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

A novel homozygous mutation in Recombination Activating Gene 2 in two relatives with different clinical phenotypes: Omenn syndrome and Hyper-IgM syndrome

L. Notarangelo, Yu Nee Lee, R. Geha, 2012 .

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

V. Lougaris, A. Plebani, H. Ochs, 2019, The journal of allergy and clinical immunology. In practice.

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

A. Villa, M. Vihinen, S. Giliani, 1996, Immunology today.

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.

A. Fischer, A. Schulz, W. Friedrich, 2011, Blood.

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

A. Fischer, A. Schulz, W. Friedrich, 2011 .

Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation

S. Giliani, S. Cimini, L. Benussi, 2022, International journal of molecular sciences.

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

L. Notarangelo, J. Walter, R. Geha, 2013, Clinical immunology.

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.

B. Crompton, L. Notarangelo, S. Giliani, 2009, Clinical immunology.

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

L. Notarangelo, H. Ochs, S. Giliani, 2002, Blood.

Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

S. Giliani, G. Ianiro, M. Monini, 2019, Vaccines.

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

Martin A. M. Reijns, S. Giliani, A. Gritti, 2022, The Journal of experimental medicine.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

A. Izzotti, A. Plebani, S. Giliani, 2013, Autoimmunity reviews.

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

S. Giliani, A. Ugazio, D. Moshous, 2005, Bone Marrow Transplantation.

Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome

A. Fischer, S. Pittaluga, A. Schulz, 2020, The Journal of allergy and clinical immunology.

Defect of regulatory T cells in patients with Omenn syndrome.

L. Notarangelo, A. Plebani, R. Badolato, 2010, The Journal of allergy and clinical immunology.

Stem cell transplantation for the Wiskott–Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation

S. Giliani, S. Pai, L. Notarangelo, 2006, Bone Marrow Transplantation.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

L. Notarangelo, S. Giliani, S. Pai, 2013, The Journal of allergy and clinical immunology.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

L. Notarangelo, R. Badolato, S. Giliani, 2003, The Journal of clinical endocrinology and metabolism.

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

O. Ohara, L. Notarangelo, S. Giliani, 2018, Clinical immunology.

Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome.

M. Vihinen, S. Giliani, L. Notarangelo, 1998 .

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

S. Giliani, E. Ceretti, Andrea Abeni, 2020, Materials.

Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

V. Pascual, D. Chaussabel, J. Casanova, 2012, Nature Immunology.

Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state.

L. Notarangelo, S. Giliani, A. Santoni, 2010, Blood.

Patients' Induced Pluripotent Stem Cells to Model Drug Induced Adverse Events: A Role in Predicting Thiopurine Induced Pancreatitis?

S. Giliani, A. Ventura, S. Martelossi, 2015, Current drug metabolism.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

V. Lougaris, A. Plebani, S. Giliani, 2015, Clinical immunology.

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

Michael P. Snyder, G. Euskirchen, R. Chen, 2013, The Journal of allergy and clinical immunology.

Immunodeficiencies due to defects of class-switch recombination

L. Notarangelo, S. Giliani, G. Lanzi, 2007, Immunologic research.

Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients

S. Giliani, S. Orcesi, E. Fazzi, 2020, Clinical pharmacology and therapeutics.

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.

M. Vihinen, L. Notarangelo, S. Giliani, 2000, Biochemical and biophysical research communications.

Next Generation Sequencing Analysis in Early Onset Dementia Patients

G. Frisoni, S. Giliani, M. Pievani, 2018, Journal of Alzheimer's disease : JAD.

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

Silvia Giliani, Yinzhu Jin, Luigi D Notarangelo, 2004, Blood.

A custom 148 gene‐based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

S. Chanock, M. Yeager, J. Orange, 2010, Human mutation.

PAX1 is essential for development and function of the human thymus

T. Myers, J. Casanova, L. Notarangelo, 2020, Science Immunology.

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

J. Johnston, L. Notarangelo, S. Giliani, 1995, Nature.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

L. Notarangelo, J. Walter, V. Lougaris, 2017, Front. Immunol..

Interleukin‐7 receptor α (IL‐7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

A. Fischer, S. Dupuis, L. Notarangelo, 2005, Immunological reviews.

Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization.

L. Notarangelo, S. Giliani, F. Candotti, 2000, Clinical immunology.

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

F. Alt, S. Zha, L. Notarangelo, 2010, Proceedings of the National Academy of Sciences.

Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency

L. Notarangelo, S. Giliani, P. Airó, 2009, Immunologic research.

E-Cadherin Expression and Blunted Interferon Response in Blastic Plasmacytoid Dendritic Cell Neoplasm

S. Giliani, L. Cerroni, W. Vermi, 2021, The American journal of surgical pathology.

Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane.

S. Giliani, R. Castagnoli, Enrica Calzoni, 2020, Minerva pediatrica.

Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience

S. Giliani, A. Villa, M. Mostarica‐Stojković, 2014, Journal of Clinical Immunology.

Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.

L. Notarangelo, R. Badolato, S. Giliani, 2000, Immunobiology.

Prenatal diagnosis of JAK3 deficient SCID

A. Villa, L. Notarangelo, S. Giliani, 1999, Prenatal diagnosis.

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

R. F. Schumacher, A. Villa, R. Badolato, 1999, Human Genetics.

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

S. Giliani, S. Pecorelli, T. Frusca, 1996, The Lancet.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

M. van der Burg, E. Mejstrikova, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

Prenatal molecular diagnosis of Wiskott–Aldrich syndrome by direct mutation analysis

R. Badolato, S. Giliani, F. Candotti, 1999, Prenatal diagnosis.

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.

V. Lougaris, R. Badolato, S. Giliani, 2020, Clinical immunology.

Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency

A. Schulz, L. Notarangelo, C. Picard, 2021, Frontiers in Immunology.

Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA

L. Notarangelo, S. Giliani, O. Parolini, 1995, The Lancet.

Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).

S. Giliani, F. Candotti, O. Parolini, 1993, DNA and cell biology.

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

S. Elledge, D. Chaussabel, J. Casanova, 2018, The Journal of experimental medicine.

Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit.

S. Giliani, F. Candotti, O. Parolini, 1993, Immunodeficiency.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

L. Notarangelo, R. Geha, J. Chou, 2012, The Journal of allergy and clinical immunology.

First report of successful stem cell transplantation in a child with CD40 deficiency

S. Giliani, G. Lanzi, N. Kutukculer, 2007, Bone Marrow Transplantation.

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

R. Badolato, S. Giliani, A. Biondi, 2018, Front. Pediatr..

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype

L. Notarangelo, S. Giliani, C. Roifman, 2008, Current opinion in allergy and clinical immunology.

IN-UTERO TRANSPLANTATION OF PARENTAL CD34 HAEMATOPOIETIC PROGENITOR CELLS IN A PATIENT WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDXI)

L. Notarangelo, S. Giliani, A. Ugazio, 1997 .

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

G. Giardino, E. Cirillo, V. Lougaris, 2019, Front. Immunol..

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Hao Wu, L. Notarangelo, J. Walter, 2016, Science Immunology.

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.

Erik L. Clarke, F. Bushman, D. Schatz, 2016, Blood.

HEMATOPOIESIS AND STEM CELLS Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1 -dependent immune de ﬁ ciencies

Erik L. Clarke, F. Bushman, D. Schatz, 2016 .

Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency

F. Alt, L. Notarangelo, S. Giliani, 2011, Front. Immun..

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

F. Alt, L. Notarangelo, J. Walter, 2010, The Journal of experimental medicine.

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

A. Villa, S. Giliani, P. Macchi, 1995, American journal of human genetics.

Defective actin polymerization in EBV‐transformed B‐cell lines from patients with the Wiskott–Aldrich syndrome

L. Notarangelo, S. Giliani, W. Vermi, 1998, The Journal of pathology.

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

L. Zon, Elliott J. Hagedorn, L. Notarangelo, 2017, The Journal of experimental medicine.

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

L. Notarangelo, S. Giliani, D. Umetsu, 2008, Blood.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

L. Notarangelo, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Damaging‐agent sensitivity of Artemis‐deficient cell lines

L. Notarangelo, S. Giliani, D. Delia, 2005, European journal of immunology.

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

D. Lazarević, C. Pignata, S. Giliani, 2019, Front. Immunol..

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

A. Fischer, F. Deist, C. Bodemer, 2004, The Lancet.

Novel presentation of Omenn syndrome in association with aniridia.

David T. Miller, L. Notarangelo, S. Giliani, 2008, The Journal of allergy and clinical immunology.

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency

L. Notarangelo, A. Plebani, S. Giliani, 2002, European Journal of Pediatrics.

Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis

M. Chiarini, R. Badolato, S. Giliani, 2021, Frontiers in Immunology.

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

L. Notarangelo, S. Giliani, Yiping Gu, 2008, The Journal of allergy and clinical immunology.

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

S. Giliani, A. Padovani, F. Santorelli, 2016, Molecular Genetics and Metabolism Reports.

Long term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.

E. Cirillo, V. Lougaris, R. Consolini, 2020, The Journal of allergy and clinical immunology.

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

A. Plebani, S. Giliani, S. Esposito, 2012, Virology Journal.

Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma

L. Notarangelo, S. Giliani, Clayton K. Collings, 2018, Nature Medicine.

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

A. Schambach, M. van der Burg, L. Notarangelo, 2014, Proceedings of the National Academy of Sciences.

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

V. Lougaris, A. Plebani, R. Badolato, 2018, Clinical immunology.

Immunodeficiency with Multiple Intestinal Atresias (TTC7A)

S. Giliani, G. Lanzi, 2019, Encyclopedia of Medical Immunology.

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children

A. Plebani, S. Giliani, S. Esposito, 2012, Virology Journal.

Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

V. Lougaris, A. Plebani, R. Badolato, 2020, Clinical immunology.

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.

M. Simpson, L. Notarangelo, J. Walter, 2014, The Journal of allergy and clinical immunology.

Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis

S. Giliani, M. Duse, A. Zicari, 2020, Frontiers in Immunology.

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects

V. Lougaris, A. Plebani, S. Giliani, 2016, Expert review of clinical immunology.

Reversible Severe Combined Immunodeficiency Phenotype Secondary to a Mutation of the Proton-Coupled Folate Transporter

B. Crompton, L. Notarangelo, S. Giliani, 2009 .

Differences Between Plasma and Cerebrospinal Fluid p-tau181 and p-tau231 in Early Alzheimer's Disease.

S. Giliani, H. Zetterberg, A. Padovani, 2022, Journal of Alzheimer's disease : JAD.

Differences between plasma and CSF p-tau181 and p-tau231 in early Alzheimer s disease

S. Giliani, H. Zetterberg, A. Padovani, 2021, medRxiv.

Sine causa tetraparesis

R. Badolato, S. Giliani, S. Orcesi, 2018, Medicine.

The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies.

A. Schambach, L. Notarangelo, W. Al-Herz, 2012, Current opinion in immunology.

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation.

S. Giliani, N. Riccardi, S. Volpi, 2019, Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive.

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

C. Patrosso, A. Villa, L. Notarangelo, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.

L. Notarangelo, J. Walter, S. Giliani, 2013, The Journal of allergy and clinical immunology.

Immune deficiencies , infection , and systemic immune disorders Reduced thymic output , cell cycle abnormalities , and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

K. Strauss, D. Morton, L. Notarangelo, 2011 .

Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.

S. Giliani, E. Valente, G. Lanzi, 2021, Stem cell research.

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

A. Villa, S. Giliani, P. Macchi, 1994, Human mutation.

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