Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
Dadi, Harjit, Jones, Tyler A., Merico, Daniele, Sharfe, Nigel, Ovadia, Adi, Schejter, Yael, Reid, Brenda, Sun, Mark, Vong, Linda, Atkinson, Adelle, Lavi, Sasson, Pomerantz, Joel L., Roifman, Chaim M.
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Journal Article
The effects of RelB deficiency on lymphocyte development and function
Sharfe, Nigel, Merico, Daniele, Karanxha, Ariana, Macdonald, Carly, Dadi, Harjit, Ngan, Bo, Herbrick, Jo-Anne, Roifman, Chaim M
Published in Journal of autoimmunity (01.12.2015)
Published in Journal of autoimmunity (01.12.2015)
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Journal Article
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
Sharfe, Nigel, PhD, Nahum, Amit, MD, PhD, Newell, Andrea, BSc, Dadi, Harjit, PhD, Ngan, Bo, MD, Pereira, Sergio L., PhD, Herbrick, Jo-Anne, BSc, Roifman, Chaim M., MD
Published in Journal of allergy and clinical immunology (01.03.2014)
Published in Journal of allergy and clinical immunology (01.03.2014)
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Journal Article
Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant
Scott, Ori, Sharfe, Nigel, Dadi, Harjit, Vong, Linda, Garkaby, Jenny, Abrego Fuentes, Laura, Willett Pachul, Jessica, Nelles, Sandra, Nahum, Amit, Roifman, Chaim M
Published in Frontiers in immunology (20.01.2022)
Published in Frontiers in immunology (20.01.2022)
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Journal Article
Cloning and Characterization of a Lymphoid-Specific, Inducible Human Protein Tyrosine Phosphatase, Lyp
Cohen, Shai, Dadi, Harjit, Shaoul, Ester, Sharfe, Nigel, Roifman, Chaim M.
Published in Blood (15.03.1999)
Published in Blood (15.03.1999)
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Journal Article
The Kinase-null EphB6 Receptor Undergoes Transphosphorylation in a Complex with EphB1
Freywald, Andrew, Sharfe, Nigel, Roifman, Chaim M.
Published in The Journal of biological chemistry (08.02.2002)
Published in The Journal of biological chemistry (08.02.2002)
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Journal Article
EphA Receptors Inhibit Anti-CD3-Induced Apoptosis in Thymocytes
Freywald, Andrew, Sharfe, Nigel, Miller, Charlotte D'E, Rashotte, Cher, Roifman, Chaim M
Published in Journal of Immunology (01.04.2006)
Published in Journal of Immunology (01.04.2006)
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Journal Article
The EphB6 Receptor Cooperates with c-Cbl to Regulate the Behavior of Breast Cancer Cells
TRUITT, Luke, FREYWALD, Tanya, DECOTEAU, John, SHARFE, Nigel, FREYWALD, Andrew
Published in Cancer research (Chicago, Ill.) (01.02.2010)
Published in Cancer research (Chicago, Ill.) (01.02.2010)
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Journal Article
Combined immunodeficiency caused by a novel homozygous NFKB1 mutation
Mandola, Amarilla B., Sharfe, Nigel, Nagdi, Zahra, Dadi, Harjit, Vong, Linda, Merico, Daniele, Ngan, Bo, Reid, Brenda, Roifman, Chaim M.
Published in Journal of allergy and clinical immunology (01.02.2021)
Published in Journal of allergy and clinical immunology (01.02.2021)
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Journal Article
Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency
Nahum, Amit, Sharfe, Nigel, Broides, Arnon, Dadi, Harjit, Naghdi, Zahra, Mandola, Amarilla B., Vong, Linda, Arbiv, Adi, Dalal, Ilan, Brami, Ido, Wormser, Ohad, Levy, Jacov, Roifman, Chaim M.
Published in Journal of allergy and clinical immunology (01.03.2020)
Published in Journal of allergy and clinical immunology (01.03.2020)
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Journal Article
NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity
Sharfe, Nigel, Dalal, Ilan, Naghdi, Zahra, Lefaudeux, Diane, Vong, Linda, Dadi, Harjit, Navarro, Hector, Tasher, Diana, Ovadia, Adi, Zangen, Tzili, Ater, Dorit, Ngan, Bo, Hoffmann, Alexander, Roifman, Chaim M.
Published in Journal of autoimmunity (01.05.2023)
Published in Journal of autoimmunity (01.05.2023)
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Journal Article
Novel immunodeficiency caused by homozygous mutation in SLC19A1 encoding the reduced folate carrier
Shiraishi, Akira, Uygun, Vedat, Sharfe, Nigel, Beldar, Serap, Sun, Mark George Ford, Dadi, Harjit, Vong, Linda, Maxson, Michelle, Karaca, Neslihan E., Mevlitoğlu, Süleyman, Grinstein, Sergio, Artan, Reha, Merico, Daniele, Roifman, Chaim M
Published in Blood (06.02.2023)
Published in Blood (06.02.2023)
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Journal Article
Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features
Sharfe, Nigel, Karanxha, Ariana, Dadi, Harjit, Merico, Daniele, Chitayat, David, Herbrick, Jo-Anne, Freeman, Spencer, Grinstein, Sergio, Roifman, Chaim M.
Published in Journal of allergy and clinical immunology (01.08.2018)
Published in Journal of allergy and clinical immunology (01.08.2018)
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Journal Article
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier
Shiraishi, Akira, Uygun, Vedat, Sharfe, Nigel, Beldar, Serap, Sun, Mark G. F., Dadi, Harjit, Vong, Linda, Maxson, Michelle, Karaca, Neslihan E., Mevlitoğlu, Süleyman, Grinstein, Sergio, Artan, Reha, Merico, Daniele, Roifman, Chaim M.
Published in Blood (29.06.2023)
Published in Blood (29.06.2023)
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Journal Article
Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression
Ovadia, Adi, Sharfe, Nigel, Hawkins, Cynthia, Laughlin, Suzanne, Roifman, Chaim M.
Published in Npj genomic medicine (20.08.2018)
Published in Npj genomic medicine (20.08.2018)
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Journal Article