Luigi Daniele Notarangelo
Luigi Daniele Notarangelo
National Institute of Allergy and Infectious Diseases, NIH
Verified email at
Cited by
Cited by
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ...
Cell 102 (5), 565-575, 2000
Diagnostic criteria for primary immunodeficiencies
ME Conley, LD Notarangelo, A Etzioni
Clinical immunology 93 (3), 190-197, 1999
Gene therapy for immunodeficiency due to adenosine deaminase deficiency
A Aiuti, F Cattaneo, S Galimberti, U Benninghoff, B Cassani, L Callegaro, ...
New England Journal of Medicine 360 (5), 447-458, 2009
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
J Sayos, C Wu, M Morra, N Wang, X Zhang, D Allen, S Van Schaik, ...
Nature 395 (6701), 462-469, 1998
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
P Macchi, A Villa, S Giliani, MG Sacco, A Frattini, F Porta, AG Ugazio, ...
Nature 377 (6544), 65-68, 1995
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA− immunodeficient patients
C Bordignon, LD Notarangelo, N Nobili, G Ferrari, G Casorati, P Panina, ...
Science 270 (5235), 470-475, 1995
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
HS Kuehn, W Ouyang, B Lo, EK Deenick, JE Niemela, DT Avery, ...
Science 345 (6204), 1623-1627, 2014
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
U Korthäuer, D Graf, HW Mages, F Brière, M Padayachee, S Malcolm, ...
Nature 361 (6412), 539-541, 1993
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ...
Nature genetics 25 (3), 343-346, 2000
Clinical spectrum of X-linked hyper-IgM syndrome
J Levy, T Espanol-Boren, C Thomas, A Fischer, P Tovo, P Bordigoni, ...
The Journal of pediatrics 131 (1), 47-54, 1997
Transplantation outcomes for severe combined immunodeficiency, 2000–2009
SY Pai, BR Logan, LM Griffith, RH Buckley, RE Parrott, CC Dvorak, ...
New England Journal of Medicine 371 (5), 434-446, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
A Kwan, RS Abraham, R Currier, A Brower, K Andruszewski, JK Abbott, ...
Jama 312 (7), 729-738, 2014
Primary immunodeficiencies
LD Notarangelo
Journal of Allergy and Clinical Immunology 125 (2), S182-S194, 2010
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
Primary immunodeficiencies: 2009 update
LD Notarangelo, A Fischer, RS Geha, JL Casanova, H Chapel, ...
Journal of Allergy and Clinical Immunology 124 (6), 1161-1178, 2009
Primary immunodeficiency diseases: an update from the international union of immunological societies primary immunodeficiency diseases classification committee
RS Geha, LD Notarangelo, JL Casanova, H Chapel, ME Conley, ...
Journal of Allergy and Clinical Immunology 120 (4), 776-794, 2007
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
W Al-Herz, A Bousfiha, JL Casanova, H Chapel, ME Conley, ...
Frontiers in immunology 2, 54, 2011
X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill …
S Parolini, C Bottino, M Falco, R Augugliaro, S Giliani, R Franceschini, ...
The Journal of experimental medicine 192 (3), 337-346, 2000
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