L D Notarangelo Selected Research

Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

1/2018	Jak3 deficiency blocks innate lymphoid cell development.
7/2005	Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
4/2002	B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency.
12/2001	Unexpected and variable phenotypes in a family with JAK3 deficiency.
10/2001	Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
1/2001	V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
12/2000	Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
8/2000	Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.
8/2000	Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
1/2000	Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

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L D Notarangelo Research Topics

Disease

10	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2018 - 01/2000
3	Type 1 Hyper-IgM Immunodeficiency Syndrome 07/2002 - 10/2000
2	Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome) 10/2000 - 09/2000
1	COVID-19 01/2021
1	Lymphoma (Lymphomas) 01/2021
1	Hematologic Neoplasms (Hematological Malignancy) 01/2021
1	Rheumatoid Arthritis 01/2018
1	Ganglioneuroma 04/2007
1	Ganglion Cysts (Ganglion) 04/2007
1	Neuroblastoma 04/2007
1	Cytopenia 12/2006
1	Fever (Fevers) 12/2006
1	Wiskott-Aldrich Syndrome 11/2006
1	Graft vs Host Disease (Graft-Versus-Host Disease) 11/2006
1	Disease Progression 11/2006
1	Systemic Lupus Erythematosus (Libman-Sacks Disease) 06/2003
1	Chronic Granulomatous Disease 06/2003
1	Guillain-Barre Syndrome 01/2003
1	Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome) 07/2002
1	Lymphoproliferative Disorders (Lymphoproliferative Disorder) 08/2001
1	Renal Insufficiency (Renal Failure) 01/2001
1	Hyperplasia 09/2000
1	Osteopetrosis 07/2000

Drug/Important Bio-Agent (IBA)

2	Immunoglobulin IsotypesIBA 10/2001 - 09/2000
2	CD40 Ligand (CD40L)IBA 10/2001 - 10/2000
2	Phosphotransferases (Kinase)IBA 10/2001 - 08/2000
1	Rituximab (Mabthera)FDA Link 01/2021
1	AntibodiesIBA 01/2021
1	tofacitinibIBA 01/2018
1	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 01/2018
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/2007
1	CEACAM1 ProteinIBA 04/2007
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 04/2007
1	Interferon-gamma (Interferon, gamma)IBA 06/2003
1	PerforinIBA 01/2003
1	Janus Kinase 3IBA 12/2001
1	Signaling Lymphocytic Activation Molecule Associated ProteinIBA 08/2001
1	Antigen Receptors (Antigen Receptor)IBA 01/2001
1	Proteins (Proteins, Gene)FDA Link 12/2000
1	CytokinesIBA 10/2000
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 10/2000
1	Cytidine DeaminaseIBA 09/2000
1	Cytokine Receptors (Cytokine Receptor)IBA 08/2000
1	Proton Pumps (Proton Pump)IBA 07/2000

Therapy/Procedure

4	Bone Marrow Transplantation (Transplantation, Bone Marrow) 07/2002 - 01/2000
3	Transplantation 11/2006 - 01/2001
2	Stem Cell Transplantation 12/2006 - 11/2006
1	Drug Therapy (Chemotherapy) 11/2006
1	Hematopoietic Stem Cell Transplantation 07/2005