Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasi...

por Notarangelo, Luigi D
Publicado 2017

HPV: CIB1 is for EVER and EVER

por Notarangelo, Luigi D.
Publicado 2018

Out of breath: GM-CSFRα mutations disrupt surfactant homeostasis

por Notarangelo, Luigi D., Pessach, Itai
Publicado 2008

Editorial: NK Cell Subsets in Health and Disease: New Developments

por Marcenaro, Emanuela, Notarangelo, Luigi D., Orange, Jordan S., Vivier, Eric
Publicado 2017

Granulomatous inflammation in inborn errors of immunity

por Sacco, Keith A., Gazzin, Andrea, Notarangelo, Luigi D., Delmonte, Ottavia M.
Publicado 2023

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile

por Al-Herz, Waleed, Massaad, Michel J., Chou, Janet, Notarangelo, Luigi D., Geha, Raif S.
Publicado 2018

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

por Casanova, Jean-Laurent, Conley, Mary Ellen, Seligman, Stephen J., Abel, Laurent, Notarangelo, Luigi D.
Publicado 2014

414. Developing Digital Phenotypes of Primary Immune Deficiencies Using Machine Learning on a Large Electronic Health Record Database

por Meister, Leo, Zerbe, Christa, Notarangelo, Luigi D, Kadri, Sameer S, Rebecca Prevots, D, Ricotta, Emily
Publicado 2019

BTK inhibitors for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2): A Systematic Review

por Stack, Michael, Sacco, Keith, Castagnoli, Riccardo, Livinski, Alicia A., Notarangelo, Luigi D., Lionakis, Michail S.
Publicado 2021

BTK inhibitors for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): A systematic review

por Stack, Michael, Sacco, Keith, Castagnoli, Riccardo, Livinski, Alicia A., Notarangelo, Luigi D., Lionakis, Michail S.
Publicado 2021

Lack of specific T- and B-cell clonal expansions in multiple sclerosis patients with progressive multifocal leukoencephalopathy

por Bertoli, Diego, Sottini, Alessandra, Capra, Ruggero, Scarpazza, Cristina, Bresciani, Roberto, Notarangelo, Luigi D., Imberti, Luisa
Publicado 2019

The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development

por Tsui, Michael, Min, Weixian, Ng, Stephanie, Dobbs, Kerry, Notarangelo, Luigi D., Dror, Yigal, Grunebaum, Eyal
Publicado 2021

Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons

por Tsui, Michael, Biro, Jeremy, Chan, Jonathan, Min, Weixian, Dobbs, Kerry, Notarangelo, Luigi D., Grunebaum, Eyal
Publicado 2022

Reduction in the rate and improvement in the prognosis of COVID-19 in haematological patients over time

por Cattaneo, Chiara, Pagani, Chiara, Cancelli, Valeria, Imberti, Luisa, Roccaro, Aldo M., Notarangelo, Luigi D., Rossi, Giuseppe
Publicado 2020

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation

por Haque, Neshatul, Kawai, Tomoki, Ratnasinghe, Brian D., Wagenknecht, Jessica B., Urrutia, Raul, Notarangelo, Luigi D., Zimmermann, Michael T.
Publicado 2023

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

por Tabellini, Giovanna, Patrizi, Ornella, Dobbs, Kerry, Lougaris, Vassilios, Baronio, Manuela, Coltrini, Daniela, Plebani, Alessandro, Badolato, Raffaele, Notarangelo, Luigi D., Parolini, Silvia
Publicado 2019

Exacerbated experimental arthritis in Wiskott–Aldrich syndrome protein deficiency: Modulatory role of regulatory B cells

por Bouma, Gerben, Carter, Natalie A, Recher, Mike, Malinova, Dessislava, Adriani, Marsilio, Notarangelo, Luigi D, Burns, Siobhan O, Mauri, Claudia, Thrasher, Adrian J
Publicado 2014

Gntb-A, a Novel Sh2d1a-Associated Surface Molecule Contributing to the Inability of Natural Killer Cells to Kill Epstein-Barr Virus–Infected B Cells in X-Linked Lymphoproliferative...

por Bottino, Cristina, Falco, Michela, Parolini, Silvia, Marcenaro, Emanuela, Augugliaro, Raffaella, Sivori, Simona, Landi, Elena, Biassoni, Roberto, Notarangelo, Luigi D., Moretta, Lorenzo, Moretta, Alessandro
Publicado 2001

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population

por Al-Herz, Waleed, Chou, Janet, Delmonte, Ottavia Maria, Massaad, Michel J., Bainter, Wayne, Castagnoli, Riccardo, Klein, Christoph, Bryceson, Yenan T., Geha, Raif S., Notarangelo, Luigi D.
Publicado 2019

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

por Zhang, Qian, Bastard, Paul, Bolze, Alexandre, Jouanguy, Emmanuelle, Zhang, Shen-Ying, Cobat, Aurélie, Notarangelo, Luigi D., Su, Helen C., Abel, Laurent, Casanova, Jean-Laurent
Publicado 2020