Silvia Giliani Selected Research

Infections

1/2021	Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.
1/2020	Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
1/2020	Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.
11/2012	Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children.
9/2010	A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.

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Silvia Giliani Research Topics

Disease

11	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2022 - 04/2004
5	Infections 01/2021 - 09/2010
4	Agammaglobulinemia (Hypogammaglobulinemia) 03/2019 - 12/2009
4	Wiskott-Aldrich Syndrome 11/2015 - 04/2010
3	Lymphopenia (Lymphocytopenia) 04/2024 - 07/2010
3	Thrombocytopenia 1 11/2015 - 04/2010
3	Cartilage-hair hypoplasia 01/2014 - 12/2008
2	Common Variable Immunodeficiency 01/2019 - 09/2010
2	Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome) 09/2010 - 12/2004
1	Candidiasis (Moniliasis) 04/2024
1	Diarrhea 01/2022
1	Lymphadenopathy 01/2022
1	Opportunistic Infections (Opportunistic Infection) 01/2022
1	Alopecia (Baldness) 01/2022
1	Exfoliative Dermatitis (Erythroderma) 01/2022
1	COVID-19 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Aicardi-Goutieres syndrome 01/2021
1	Colitis 11/2020
1	Otofaciocervical Syndrome 01/2020
1	Bruton type agammaglobulinemia 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Allergic Rhinitis 01/2020
1	Lung Diseases (Lung Disease) 01/2020
1	Persistent Infection 11/2019
1	Rotavirus Infections 11/2019
1	Soft Tissue Infections 03/2019
1	Bacterial Infections (Bacterial Infection) 03/2019
1	Lymphoma (Lymphomas) 01/2019
1	T-Cell Lymphoma (Lymphoma, T Cell) 01/2019
1	Neoplasms (Cancer) 01/2019
1	Muscle Spasticity (Spastic) 12/2018
1	Autoimmune Diseases (Autoimmune Disease) 01/2018
1	Leukocyte adhesion deficiency type 1 01/2018
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 01/2018
1	Huntington Disease (Huntington's Disease) 03/2016
1	Muscular Diseases (Myopathy) 03/2016
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 03/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 03/2016
1	Crohn Disease (Crohn's Disease) 01/2015
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2015
1	Pancreatitis 01/2015
1	Human Influenza (Influenza) 11/2012
1	Virus Diseases (Viral Diseases) 08/2011

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 03/2002
3	ruxolitinibIBA 04/2024 - 01/2021
3	Immunoglobulins (Immunoglobulin)IBA 01/2020 - 07/2010
3	Immunoglobulin M (IgM)IBA 01/2019 - 07/2010
2	InterferonsIBA 04/2024 - 12/2018
2	Immunoglobulin E (IgE)IBA 01/2020 - 07/2010
2	Agammaglobulinaemia Tyrosine KinaseIBA 01/2019 - 01/2016
2	Wiskott-Aldrich Syndrome ProteinIBA 01/2019 - 07/2004
2	Cytidine DeaminaseIBA 01/2019 - 12/2004
2	AutoantibodiesIBA 11/2015 - 07/2010
2	Immunoglobulin A (IgA)IBA 12/2010 - 07/2010
2	Ribonucleases (Ribonuclease)IBA 12/2008 - 12/2008
2	Mitochondrial RNAIBA 12/2008 - 12/2008
1	Janus KinasesIBA 01/2021
1	Janus Kinase InhibitorsIBA 01/2021
1	Dextran SulfateIBA 11/2020
1	SaltsIBA 11/2020
1	Immunoglobulin IsotypesIBA 01/2020
1	Rotavirus VaccinesIBA 11/2019
1	VaccinesIBA 11/2019
1	Anti-Bacterial Agents (Antibiotics)IBA 03/2019
1	Phosphotransferases (Kinase)IBA 03/2019
1	Guanosine Triphosphate (GTP)IBA 01/2019
1	Mitogen-Activated Protein KinasesIBA 01/2019
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2019
1	CD40 Ligand (CD40L)IBA 01/2019
1	LipopolysaccharidesIBA 01/2019
1	Therapeutic UsesIBA 01/2019
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2019
1	IntegrinsIBA 01/2018
1	Adenosine DeaminaseIBA 01/2018
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2018
1	Immunoglobulin Heavy Chains (Immunoglobulin Heavy Chain)IBA 12/2016
1	(5-methoxy-2-thienyl)thioacetic acidIBA 03/2016
1	Mitochondrial DNA (mtDNA)IBA 03/2016
1	Transfer RNA (tRNA)IBA 03/2016
1	Ala Transfer RNAIBA 03/2016
1	Pre-B Cell ReceptorsIBA 01/2016
1	AntimetabolitesIBA 01/2015
1	Azathioprine (Imuran)FDA LinkGeneric 01/2015
1	Vincristine (Oncovin)FDA LinkGeneric 01/2015
1	2-mercaptopurineIBA 01/2015
1	Mercaptopurine (6 Mercaptopurine)FDA LinkGeneric 01/2015
1	Biomarkers (Surrogate Marker)IBA 01/2015
1	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 01/2014
1	Long Noncoding RNAIBA 01/2014
1	Janus Kinase 3IBA 04/2013
1	Toll-Like Receptor 3IBA 11/2012
1	Toll-Like Receptors (Toll-Like Receptor)IBA 11/2012
1	STAT1 Transcription FactorIBA 08/2011

Therapy/Procedure

3	Therapeutics 04/2024 - 01/2018
3	Hematopoietic Stem Cell Transplantation 01/2022 - 11/2019
2	Stem Cell Transplantation 06/2004 - 04/2004
1	Negative-Pressure Wound Therapy 03/2019
1	Drug Therapy (Chemotherapy) 01/2015
1	Minor Surgical Procedures (Minor Surgery) 11/2012