Author details

Full Name

Luigi D Notarangelo

Affiliation

Laboratory of Clinical Immunology and Microbiology, National Institute of Health

ORCID

Career Start Year

1998

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34033842	International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.	J Allergy Clin Immunol	2022
35753512	Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.	J Allergy Clin Immunol	2022
35033700	Chronic Granulomatous Disease With Inflammatory Bowel Disease: Clinical Presentation, Treatment, and Outcomes From the USIDNET Registry.	J Allergy Clin Immunol Pract	2022
35338703	Rubella Virus-Associated Granulomas in Immunocompetent Adults-Possible Implications.	JAMA Dermatol	2022
34580862	Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.	Br J Haematol	2022
32387109	Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency.	J Allergy Clin Immunol	2021
33572538	Gut Microbiota-Host Interactions in Inborn Errors of Immunity.	Int J Mol Sci	2021
33682138	RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.	Eur J Immunol	2021
33890986	Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.	J Exp Med	2021
33607339	Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.	J Allergy Clin Immunol Pract	2021
33551024	An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.	J Allergy Clin Immunol	2021
33983545	Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency.	J Clin Immunol	2021
34136975	Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.	J Clin Immunol	2021
33168705	Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.	Neurology	2021
33215322	Complete Absence of CD3Î³ Protein Expression Is Responsible for Combined Immunodeficiency with Autoimmunity Rather than SCID.	J Clin Immunol	2021
33393505	TLR3 controls constitutive IFN-Î² antiviral immunity in human fibroblasts and cortical neurons.	J Clin Invest	2021
33471124	Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.	J Infect Dis	2021
31597133	Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.	Med Princ Pract	2020
31669096	IgG Fc glycosylation as an axis of humoral immunity in childhood.	J Allergy Clin Immunol	2020
31942628	Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.	Blood	2020
30697212	Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.	Front Immunol	2019
31201888	Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.	J Allergy Clin Immunol	2019
30891027	Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase Î´ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.	Front Immunol	2019
30936877	Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.	Front Immunol	2019
31024866	Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.	Front Pediatr	2019
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
29746676	Future of Care for Patients With Chronic Granulomatous Disease: Gene Therapy and Targeted Molecular Medicine.	J Pediatric Infect Dis Soc	2018
28935643	Transplant for NEMO: this and much, much more.	Blood	2017
24829241	Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease.	J Clin Microbiol	2014
19012992	Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.	J Hepatol	2009
12458574	Percutaneous transhepatic alcoholization: a new therapeutic strategy in children with chronic granulomatous disease and liver abscess.	Pediatr Infect Dis J	2002
9578979	Ureteral obstruction in a patient with chronic granulomatous disease, receiving combined prophylaxis with IFN-gamma and antibiotics.	Eur J Pediatr	1998

1 - 32 of 32

Reem Elfeky

GOS Hospital for Children NHS Foundation Trust, University College London

Career Start Year 2014

Number of shared co-authors 22

Julia Pazmandi

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Career Start Year 2014

Number of shared co-authors 16

Paulo Czarnewski

Karolinska Institute, Center for Molecular Medicine

Career Start Year 2012

Number of shared co-authors 0

Fabian Hauck

Department of Pediatrics at the Dr. von Hauner Children's Hospital

Career Start Year 2008

Number of shared co-authors 20

Catharina Schuetz

University Hospital Carl Gustav Carus, Technische Universitat Dresden

Career Start Year 2007

Number of shared co-authors 22

Geoffrey D E Cuvelier

University of Manitoba

Career Start Year 2005

Number of shared co-authors 1

Michael Gombert

Hematology and Clinical Immunology, Heinrich-Heine University Dusseldorf

Career Start Year 2004

Number of shared co-authors 0

Minji Byun

Icahn School of Medicine at Mount Sinai

Career Start Year 2003

Number of shared co-authors 1

Melita Irving

Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital

Career Start Year 2001

Number of shared co-authors 6

Marielle E van Gijn

University Medical Center Groningen

Career Start Year 1999

Number of shared co-authors 20

Markus G Seidel

Medical University of Graz

Career Start Year 1998

Number of shared co-authors 16

Bernard Khor

Center for Translational Immunology, Benaroya Research Institute at Virginia Mason

Career Start Year 1998

Number of shared co-authors 0

Gerhard Kindle

Center for Chronic Immunodeficiency (CCI), Medical Center, University of Freiburg

Career Start Year 1996

Number of shared co-authors 17

Jane H Buckner

Center for Translational Immunology, Benaroya Research Institute at Virginia Mason

Career Start Year 1995

Number of shared co-authors 2

Chance John Luckey

University of Virginia School of Medicine.

Career Start Year 1995

Number of shared co-authors 0

Debra A Long Priel

Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research

Career Start Year 1995

Number of shared co-authors 11

Kimberly Gilmour

NIHR Great Ormond Street Hospital BRC

Career Start Year 1994

Number of shared co-authors 22

Manish J Butte

University of California Los Angeles

Career Start Year 1994

Number of shared co-authors 4

Kim E Nichols

St. Jude Children's Research Hospital

Career Start Year 1986

Number of shared co-authors 3

Maura Rossetti

University of California Los Angeles

Career Start Year 1986

Number of shared co-authors 0

Ben Z Katz

Feinberg School of Medicine, Northwestern University

Career Start Year 1984

Number of shared co-authors 1

Phuong Nguyen

Hoag Memorial Hospital Presbyterian

Career Start Year 1983

Number of shared co-authors 0

Christopher B Wilson

Drukier Institute for Children's Health

Career Start Year 1976

Number of shared co-authors 1

Jonathan Braun

Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center

Career Start Year 1975

Number of shared co-authors 0

Katherine A Siminovitch

University of Toronto, Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital

Career Start Year 1974

Number of shared co-authors 0

Leonard D Shultz

The Jackson Laboratory Cancer Center

Career Start Year 1971

Number of shared co-authors 0

Tak W Mak

Princess Margaret Cancer Centre, University Health Network

Career Start Year 1970

Number of shared co-authors 0

Merrill Eric Gershwin

Allergy and Clinical Immunology, University of California at Davis

Career Start Year 1967

Number of shared co-authors 0

Robert A Brodsky

Sidney Kimmel Cancer Center, Johns Hopkins University

Career Start Year 1958

Number of shared co-authors 2

Anthony P Monaco

Monash University

Career Start Year 1958

Number of shared co-authors 3

row(s) 1 - 30 of 30

Sergio D Rosenzweig

National Institute of Allergy and Infectious Diseases

Co-authored papers 6

Amy D Klion

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Co-authored papers 2

Morgan Similuk

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Co-authored papers 2

Charlotte Cunningham-Rundles

Precision Immunology Institute, Icahn School of Medicine at Mount Sinai

Co-authored papers 2

Jenna R E Bergerson

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Co-authored papers 2

Melody C Carter

National Institute of Allergy and Infectious Diseases, National Institutes of Health

Co-authored papers 2

Stefania Pittaluga

National Cancer Institute, National Institutes of Health

Co-authored papers 2

Joshua D Milner

Columbia University

Co-authored papers 2

Weimin Bi

Co-authored papers 1

Hannah Blau

Co-authored papers 1

Xingmin Aaron Zhang

Co-authored papers 1

Eric Karlins

Co-authored papers 1

Francisco Castellanos

Instituto Politecnico Nacional

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Joie Davis

National Institutes of Health

Co-authored papers 1

Richard Palmer

Curtin University

Co-authored papers 1

H??l??ne Dollfus

Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg

Co-authored papers 1

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London