Alessandro Aiuti Selected Research

Severe combined immunodeficiency due to adenosine deaminase deficiency

1/2021	Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guérin infection.
1/2020	Urogenital Abnormalities in Adenosine Deaminase Deficiency.
12/2019	Bone marrow harvesting from paediatric patients undergoing haematopoietic stem cell gene therapy.
1/2019	Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
12/2018	Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis.
1/2018	Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.
1/2018	Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.
11/2017	Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
11/2017	Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.
11/2017	A map of human circular RNAs in clinically relevant tissues.

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Alessandro Aiuti Research Topics

Disease

37	Severe combined immunodeficiency due to adenosine deaminase deficiency 01/2021 - 05/2002
31	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2021 - 06/2002
16	Wiskott-Aldrich Syndrome 01/2022 - 08/2002
10	Infections 10/2022 - 09/2002
8	Chronic Granulomatous Disease 01/2021 - 01/2009
6	COVID-19 01/2022 - 01/2020
6	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2021 - 08/2013
5	Inflammation (Inflammations) 01/2021 - 10/2016
4	Neoplasms (Cancer) 10/2022 - 07/2007
4	Mucopolysaccharidosis I (Hurler Syndrome) 01/2022 - 01/2017
3	Primary Immunodeficiency Diseases 10/2022 - 03/2015
3	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 12/2021 - 01/2020
3	Pneumonia (Pneumonitis) 01/2021 - 10/2020
3	Disease Progression 01/2021 - 01/2017
3	Reinfection 02/2013 - 09/2004
2	Mucopolysaccharidoses 01/2022 - 11/2018
2	Hemorrhage 05/2019 - 01/2019
2	Thalassemia 01/2019 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 01/2017
2	Hematologic Neoplasms (Hematological Malignancy) 01/2016 - 08/2012
2	Eczema 05/2014 - 09/2008
2	Virus Diseases (Viral Diseases) 11/2005 - 09/2002
1	Bronchiectasis 10/2022
1	Lung Diseases (Lung Disease) 10/2022
1	Colitis 10/2022
1	Paralysis (Palsy) 02/2022
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 11/2021
1	Diabetes Insipidus 11/2021
1	Immunoglobulin G4-Related Disease 01/2021
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 01/2021
1	Stroke (Strokes) 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 01/2021
1	Tuberculosis (Tuberculoses) 01/2021
1	Osteopetrosis 01/2021
1	Asymptomatic Infections 01/2021
1	X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation 01/2020
1	Cryptorchidism (Undescended Testes) 01/2020
1	Bacterial Infections (Bacterial Infection) 01/2019
1	Viremia 01/2019
1	Wounds and Injuries (Trauma) 01/2019
1	Lymphopenia (Lymphocytopenia) 11/2018
1	Schmid-Fraccaro syndrome 01/2018
1	Cytopenia 01/2018
1	Rare Diseases (Rare Disease) 01/2018

Drug/Important Bio-Agent (IBA)

33	Adenosine DeaminaseIBA 01/2021 - 06/2002
14	purineIBA 11/2017 - 09/2004
10	AutoantibodiesIBA 01/2022 - 02/2012
10	CytokinesIBA 01/2021 - 09/2002
7	EnzymesIBA 01/2019 - 05/2002
6	Proteins (Proteins, Gene)FDA Link 01/2019 - 11/2006
5	pegademase bovine (pegADA)FDA Link 01/2020 - 12/2003
3	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2020
3	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/2021 - 08/2013
3	Wiskott-Aldrich Syndrome ProteinIBA 05/2019 - 05/2014
3	Adenosine (Adenocard)FDA LinkGeneric 11/2017 - 04/2008
3	Busulfan (Busulfex)FDA Link 10/2010 - 01/2009
2	NADPH Oxidases (NAD(P)H oxidase)IBA 01/2021 - 10/2016
2	Sirolimus (Rapamycin)FDA Link 01/2020 - 01/2018
2	Iduronidase (alpha-L-Iduronidase)IBA 01/2019 - 01/2017
2	Hemoglobins (Hemoglobin)IBA 01/2019 - 01/2019
2	Immunoglobulin E (IgE)IBA 01/2019 - 11/2018
2	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2018 - 03/2015
2	HLA Antigens (Human Leukocyte Antigens)IBA 11/2017 - 01/2017
2	ChemokinesIBA 10/2016 - 09/2002
2	AntibodiesIBA 10/2015 - 06/2012
2	Interleukin-2 (IL2)IBA 03/2013 - 09/2002
2	DNA (Deoxyribonucleic Acid)IBA 03/2012 - 09/2002
2	Polyethylene Glycols (Polyethylene Glycol)FDA LinkGeneric 07/2007 - 12/2003
2	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 11/2005 - 09/2002
1	Messenger RNA (mRNA)IBA 02/2022
1	COVID-19 VaccinesIBA 02/2022
1	2019-nCoV Vaccine mRNA-1273IBA 02/2022
1	VaccinesIBA 02/2022
1	Growth Hormone (Somatotropin)IBA 11/2021
1	EmapalumabIBA 01/2021
1	Rituximab (Mabthera)FDA Link 01/2021
1	Monoclonal AntibodiesIBA 01/2021
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2021
1	Prednisolone (Predate)FDA LinkGeneric 01/2021
1	Immunoglobulin G (IgG)IBA 10/2020
1	InterferonsIBA 10/2020
1	Immunoglobulins (Immunoglobulin)IBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	IronIBA 01/2019
1	GlobinsIBA 01/2019
1	sofosbuvir drug combination ledipasvirIBA 12/2018
1	GlycosaminoglycansIBA 11/2018
1	Interferon Type IIBA 11/2018
1	AutoantigensIBA 11/2018
1	defibrotideIBA 01/2018

Therapy/Procedure

13	Hematopoietic Stem Cell Transplantation 01/2022 - 05/2007
9	Therapeutics 01/2021 - 09/2002
6	Enzyme Replacement Therapy 01/2022 - 11/2006
5	Transplantation 01/2019 - 03/2007
5	Stem Cell Transplantation 11/2017 - 10/2009
4	Aftercare (After-Treatment) 01/2020 - 01/2012
3	Bone Marrow Transplantation (Transplantation, Bone Marrow) 02/2012 - 12/2009
1	Splenectomy 10/2022
1	Orchiopexy 01/2020
1	Platelet Transfusion (Blood Platelet Transfusions) 05/2019