Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Tangye, Stuart G., Gray, Paul E., Pillay, Bethany A., Yap, Jin Yan, Figgett, William A., Reeves, John, Kummerfeld, Sarah K., Stoddard, Jennifer, Uzel, Gulbu, Jing, Huie, Su, Helen C., Campbell, Dianne E., Sullivan, Anna, Burnett, Leslie, Peake, Jane, Ma, Cindy S.
Published in Journal of clinical immunology (01.01.2022)
Published in Journal of clinical immunology (01.01.2022)
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Journal Article
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
Riestra, Maria Rodrigo, Pillay, Bethany A., Willemsen, Mathijs, Kienapfel, Verena, Ehlers, Lisa, Delafontaine, Selket, Pinton, Antoine, Wouters, Marjon, Hombrouck, Anneleen, Sauer, Kate, Bossuyt, Xavier, Voet, Arnout, Soenen, Stefaan J., Conde, Cecilia Dominguez, Bucciol, Giorgia, Boztug, Kaan, Humblet-Baron, Stephanie, Touzart, Aurore, Rieux-Laucat, Frédéric, Notarangelo, Luigi D., Moens, Leen, Meyts, Isabelle
Published in Journal of clinical immunology (01.01.2024)
Published in Journal of clinical immunology (01.01.2024)
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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
Pillay, Bethany A, Fusaro, Mathieu, Gray, Paul E, Statham, Aaron L, Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De Villartay, Jean-Pierre, Ziegler, John B, Smart, Joanne M, Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G, Ma, Cindy S
Published in The Journal of clinical investigation (01.02.2021)
Published in The Journal of clinical investigation (01.02.2021)
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Journal Article
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Tangye, Stuart G., Gray, Paul E., Pillay, Bethany A., Yap, Jin Yan, Figgett, William A., Reeves, John, Kummerfeld, Sarah K., Stoddard, Jennifer, Uzel, Gulbu, Jing, Huie, Su, Helen C., Campbell, Dianne E., Sullivan, Anna, Burnett, Leslie, Peake, Jane, Ma, Cindy S.
Published in Journal of clinical immunology (01.01.2022)
Published in Journal of clinical immunology (01.01.2022)
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Journal Article
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients
Pillay, Bethany A, Avery, Danielle T, Smart, Joanne M, Cole, Theresa, Choo, Sharon, Chan, Damien, Gray, Paul E, Frith, Katie, Mitchell, Richard, Phan, Tri Giang, Wong, Melanie, Campbell, Dianne E, Hsu, Peter, Ziegler, John B, Peake, Jane, Alvaro, Frank, Picard, Capucine, Bustamante, Jacinta, Neven, Benedicte, Cant, Andrew J, Uzel, Gulbu, Arkwright, Peter D, Casanova, Jean-Laurent, Su, Helen C, Freeman, Alexandra, Shah, Nirali, Hickstein, Dennis D, Tangye, Stuart G, Ma, Cindy S
Published in JCI insight (06.06.2019)
Published in JCI insight (06.06.2019)
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Journal Article
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
Pillay, Bethany A, Fusaro, Mathieu, Gray, Paul E, Statham, Aaron L, Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De, Jean-Pierre, Ziegler, John B, Smart, Joanne M, Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G, Ma, Cindy S
Published in The Journal of clinical investigation (01.02.2021)
Published in The Journal of clinical investigation (01.02.2021)
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Journal Article