Luigi D Notarangelo Selected Research

Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

1/2022	Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.
1/2022	Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution.
1/2021	Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency.
1/2021	The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.
1/2021	Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
1/2021	Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
1/2020	Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
1/2020	PAX1 is essential for development and function of the human thymus.
1/2019	Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
10/2018	SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

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Luigi D Notarangelo Research Topics

Disease

35	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2022 - 02/2005
24	Infections 01/2022 - 09/2002
23	COVID-19 08/2022 - 09/2020
18	Wiskott-Aldrich Syndrome 01/2020 - 07/2005
15	Primary Immunodeficiency Diseases 01/2020 - 01/2002
13	Pneumonia (Pneumonitis) 03/2022 - 02/2004
9	Lymphopenia (Lymphocytopenia) 01/2021 - 07/2010
8	Virus Diseases (Viral Diseases) 08/2022 - 09/2010
7	Inflammation (Inflammations) 01/2021 - 12/2008
7	Thrombocytopenia 1 11/2015 - 10/2003
6	Autoimmune Diseases (Autoimmune Disease) 03/2022 - 03/2005
6	Severe combined immunodeficiency due to adenosine deaminase deficiency 01/2022 - 05/2002
5	Neoplasms (Cancer) 01/2022 - 08/2004
5	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 01/2021 - 12/2004
5	Graft vs Host Disease (Graft-Versus-Host Disease) 01/2020 - 04/2014
5	Thrombocytopenia (Thrombopenia) 01/2020 - 03/2002
5	Neutropenia 07/2019 - 06/2007
5	Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome) 10/2018 - 07/2003
5	Cartilage-hair hypoplasia 01/2017 - 12/2008
4	Chronic Granulomatous Disease 01/2022 - 01/2016
4	Cytopenia 01/2022 - 09/2015
4	Candidiasis (Moniliasis) 09/2021 - 12/2004
4	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 07/2019 - 12/2005
4	Type 1 Hyper-IgM Immunodeficiency Syndrome 11/2018 - 12/2003
4	Reticular dysgenesis 12/2017 - 04/2014
4	Job Syndrome (Hyper-IgE Syndrome) 04/2014 - 12/2008
3	Lymphoma (Lymphomas) 01/2019 - 08/2004
3	Agammaglobulinemia (Hypogammaglobulinemia) 12/2018 - 07/2008
3	X-Linked Combined Immunodeficiency Diseases (X Linked Severe Combined Immunodeficiency) 01/2016 - 01/2008
3	Common Variable Immunodeficiency 05/2015 - 09/2005
3	Sepsis (Septicemia) 01/2015 - 09/2002
3	Bruton type agammaglobulinemia 03/2013 - 03/2004
2	Mucocutaneous Lymph Node Syndrome (Kawasaki Disease) 03/2022 - 01/2022
2	COVID-19 related pediatric multisystem inflammatory disease 03/2022 - 01/2022
2	Purine Nucleoside Phosphorylase Deficiency 01/2022 - 07/2014
2	Hypersensitivity (Allergy) 01/2022 - 04/2014
2	type 1 Autoimmune polyendocrinopathy syndrome 01/2021 - 01/2015
2	Disease Progression 01/2021 - 12/2005
2	Colitis 11/2020 - 01/2018
2	LIG4 Syndrome 12/2019 - 02/2010
2	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune) 07/2019 - 01/2009
2	Anemia 01/2016 - 12/2009
2	Eosinophilia 01/2016 - 12/2008
2	Eczema 01/2016 - 01/2014
2	X-Linked Syndrome Enteropathy Polyendocrinopathy Immune Dysregulation 06/2015 - 01/2015
2	Opportunistic Infections (Opportunistic Infection) 04/2015 - 12/2003
2	Granuloma 04/2015 - 12/2014
2	Lymphoproliferative Disorders (Lymphoproliferative Disorder) 12/2014 - 12/2002

Drug/Important Bio-Agent (IBA)

24	AutoantibodiesIBA 08/2022 - 01/2009
24	Proteins (Proteins, Gene)FDA Link 03/2022 - 03/2002
10	AntibodiesIBA 01/2022 - 12/2008
9	InterferonsIBA 08/2022 - 01/2015
8	AntigensIBA 03/2022 - 03/2005
8	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2022 - 08/2014
8	CytokinesIBA 01/2021 - 11/2006
8	Immunoglobulins (Immunoglobulin)IBA 11/2018 - 07/2008
7	VaccinesIBA 11/2021 - 04/2014
7	Immunoglobulin E (IgE)IBA 11/2018 - 12/2008
6	Wiskott-Aldrich Syndrome ProteinIBA 01/2019 - 07/2005
5	Immunoglobulin G (IgG)IBA 08/2022 - 09/2002
5	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2021
5	Intravenous Immunoglobulins (IVIG)FDA Link 01/2022 - 01/2002
5	EnzymesIBA 01/2021 - 05/2002
5	CD40 Ligand (CD40L)IBA 01/2021 - 02/2004
5	Immunoglobulin A (IgA)IBA 12/2019 - 07/2010
4	Adenosine DeaminaseIBA 01/2022 - 01/2019
4	Interferon Type IIBA 10/2021 - 11/2018
3	AutoantigensIBA 03/2022 - 11/2018
3	Messenger RNA (mRNA)IBA 01/2022 - 03/2005
3	Peptides (Polypeptides)IBA 09/2020 - 04/2011
3	SteroidsIBA 01/2020 - 11/2015
3	CalciumIBA 01/2018 - 07/2003
3	Immunoglobulin M (IgM)IBA 07/2010 - 08/2004
2	L-Lactate Dehydrogenase (Lactate Dehydrogenase)IBA 01/2022 - 01/2022
2	trichostatin A (A 300)IBA 01/2022 - 01/2021
2	Niacinamide (Nicotinamide)FDA LinkGeneric 01/2022 - 01/2021
2	Hydroxyurea (Hydrea)FDA LinkGeneric 01/2022 - 01/2021
2	Cyclophosphamide (Cytoxan)FDA LinkGeneric 01/2022 - 01/2020
2	Busulfan (Busulfex)FDA Link 01/2022 - 01/2020
2	Ribonucleotide Reductases (Ribonucleotide Reductase)IBA 01/2022 - 01/2021
2	Anti-Bacterial Agents (Antibiotics)IBA 01/2021 - 08/2014
2	Ligases (Synthetase)IBA 01/2021 - 12/2019
2	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2018
2	Recombinases (Recombinase)IBA 01/2021 - 01/2021
2	STAT1 Transcription FactorIBA 01/2021 - 08/2011
2	purineIBA 01/2021 - 10/2009
2	MitogensIBA 01/2021 - 12/2009
2	Toll-Like Receptor 3IBA 10/2020 - 11/2012
2	Interferon Regulatory Factor-7 (Interferon Regulatory Factor 7)IBA 10/2020 - 04/2015
2	DNA Ligases (Ligases, DNA)IBA 12/2019 - 12/2018
2	Phosphatidylinositol 3-Kinases (PI 3 Kinase)IBA 01/2019 - 01/2018
2	Adrenal Cortex Hormones (Corticosteroids)IBA 11/2015 - 01/2007
2	DNA (Deoxyribonucleic Acid)IBA 07/2014 - 06/2009

Therapy/Procedure

17	Therapeutics 01/2022 - 01/2002
16	Hematopoietic Stem Cell Transplantation 01/2022 - 07/2003
15	Cell Transplantation 01/2022 - 12/2008
15	Transplantation 01/2022 - 12/2006
3	Stem Cell Transplantation 01/2022 - 12/2006
3	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2020 - 02/2006
3	Drug Therapy (Chemotherapy) 12/2017 - 08/2004