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Wyszukujesz frazę ""Pillay, Bethany"" wg kryterium: Autor


Tytuł :
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation
Autorzy :
Bucciol, GiorgiaAff1, Aff2
Pillay, BethanyAff3, Aff4
Casas-Martin, Jose
Delafontaine, SelketAff1, Aff2
Proesmans, Marijke
Lorent, Natalie
Coolen, Johan
Tousseyn, Thomas
Bossuyt, XavierAff9, Aff10
Ma, Cindy S.Aff3, Aff11
Schrijvers, RikAff12, Aff13
Tangye, Stuart G.Aff3, Aff4
Moens, Leen
Meyts, IsabelleAff1, Aff2
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Źródło :
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(4):567-570
Czasopismo naukowe
Tytuł :
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype
Autorzy :
Klinken, Elizabeth M.Aff1, Aff2
Gray, Paul E.Aff3, Aff4
Pillay, BethanyAff5, Aff6
Worley, LisaAff5, Aff6
Edwards, Emily S. J.Aff5, Aff6
Payne, Kathryn
Bennetts, Bruce
Hung, Dorothy
Wood, Ben A.
Chan, Jonathan J.
Marshall, Glenn M.
Mitchell, RichardAff10, Aff11
Uzel, Gulbu
Ma, Cindy S.Aff4, Aff5, Aff6
Tangye, Stuart G.Aff4, Aff5, Aff6
McLean-Tooke, AndrewAff1, Aff2
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Źródło :
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 40(2):299-309
Czasopismo naukowe
Tytuł :
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Autorzy :
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.
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Źródło :
Journal of Clinical Investigation. 2/1/2021, Vol. 131 Issue 3, p1-17. 17p.
Czasopismo naukowe
Tytuł :
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients
Autorzy :
Pillay, Bethany
Avery, Danielle T.
Smart, Joanne M.
Cole, Theresa
Choo, Sharon
Chan, Damien
Gray, Paul
Mitchell, Richard
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
Casanova, Jean-Laurent
Su, Helen C.
Freeman, Alexandra
Shah, Nirali
Hickstein, Dennis D
Tangye, Stuart G.
Ma, Cindy S.
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Źródło :
Pillay, B, Avery, D T, Smart, J M, Cole, T, Choo, S, Chan, D, Gray, P, Mitchell, R, Wong, M, Campbell, D E, Hsu, P, Ziegler, J B, Peake, J, Alvaro, F, Picard, C, Bustamante, J, Neven, B, Cant, A J, Uzel, G, Arkwright, P, Casanova, J-L, Su, H C, Freeman, A, Shah, N, Hickstein, D D, Tangye, S G & Ma, C S 2019, ' Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients ', Journal of Clinical Investigation Insight . https://doi.org/10.1172/jci.insight.127527
Opis pliku :
application/pdf
Tytuł :
A recessive form of Hyper IgE Syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Autorzy :
Beziat, Vivien
Li, Juan
Lin, Jian-Xin
Ma, Cindy
Li, Peng
Bousfiha, Aziz
Pellier, Isabelle
Zoghi, Samaneh
Baris, Safa
Keles, Sevgi
Gray, Paul
Du, Ning
Wang, Yi
Zerbib, Yoann
Levy, Romain
Leclercq, Thibaut
About, Frédégonde
Lim, Ai Ing
Rao, Geetha
Payne, Kathryn
Pelham, Simon
Avery, Danielle
Deenick, Elissa
Pillay, Bethany
Chou, Janet
Guery, Romain
Belkadi, Aziz
Guerin, Antoine
Migaud, Melanie
Rattina, Vimel
Ailal, Fatima
Benhsaien, Ibtihal
Bouaziz, Matthieu
Habib, Tanwir
Chaussabel, Damien
Marr, Nico
El-Benna, Jamel
Grimbacher, Bodo
Wargon, Orli
Bustamante, Jacinta
Boisson, Bertrand
Müller-Fleckenstein, Ingrid
Fleckenstein, Bernhard
Chandesris, Marie-Olivia
Titeux, Matthias
Fraitag, Sylvie
Alyanakian, Marie-Alexandra
Leruez-Ville, Marianne
Picard, Capucine
Meyts, Isabelle
Di Santo, James
Hovnanian, Alain
Somer, Ayper
Ozen, Ahmet
Rezaei, Nima
Chatila, Talal
Abel, Laurent
Leonard, Warren
Tangye, Stuart
Puel, Anne
Casanova, Jean-Laurent
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Temat :
MESH: Cell Differentiation/immunology
MESH: Th17 Cells/metabolism
MESH: Male
MESH: Gene Expression Regulation/immunology
MESH: RNA, Messenger/metabolism
MESH: Transcription Factors/immunology
[SDV.IMM]Life Sciences [q-bio]/Immunology
MESH: Transcription Factors/metabolism
MESH: Homozygote
MESH: Th2 Cells/metabolism
MESH: Lymphocyte Count
MESH: STAT3 Transcription Factor/immunology
MESH: Transcription Factors/genetics
MESH: Transcription, Genetic/immunology
MESH: Cytokines/metabolism
MESH: Young Adult
MESH: Th17 Cells/immunology
MESH: Cell Nucleus/metabolism
MESH: Female
MESH: Adult
MESH: Cell Differentiation/genetics
MESH: Genes, Recessive/immunology
MESH: Whole Exome Sequencing
MESH: STAT3 Transcription Factor/metabolism
MESH: Adolescent
MESH: Pedigree
MESH: Job Syndrome/blood
MESH: Th2 Cells/immunology
MESH: Consanguinity
MESH: Exons/genetics
MESH: Humans
MESH: Immunoglobulin E/blood
MESH: STAT3 Transcription Factor/genetics
MESH: Cytokines/immunology
Article
MESH: Loss of Function Mutation
MESH: Middle Aged
MESH: Genes, Recessive/genetics
MESH: Promoter Regions, Genetic/genetics
MESH: Zinc Fingers/genetics
MESH: Job Syndrome/immunology
MESH: Immunoglobulin E/immunology
MESH: Job Syndrome/genetics
Źródło :
Science Immunology, American Association for the Advancement of Science, 2018, 3 (24), pp.eaat4956. ⟨10.1126/sciimmunol.aat4956⟩
Tytuł :
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.
Autorzy :
Pillay BA; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
Avery DT; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Smart JM; Royal Children's Hospital, Melbourne, Victoria, Australia.
Cole T; Royal Children's Hospital, Melbourne, Victoria, Australia.
Choo S; Royal Children's Hospital, Melbourne, Victoria, Australia.
Chan D; Women and Children's Hosp==ital, Adelaide, South Australia, Australia.
Gray PE; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Sydney, Sydney, New South Wales, Australia.; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.
Frith K; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Sydney, Sydney, New South Wales, Australia.
Mitchell R; School of Women's and Children's Health, UNSW Sydney, Sydney, New South Wales, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, New South Wales Australia.
Phan TG; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia.; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.
Wong M; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.; Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Campbell DE; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.; Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Hsu P; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.; Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Ziegler JB; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, UNSW Sydney, Sydney, New South Wales, Australia.; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.
Peake J; Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Alvaro F; Pediatric Hematology, John Hunter Hospital, New Lambton, New South Wales, Australia.
Picard C; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine institut, Paris, France.; Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Bustamante J; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine institut, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Neven B; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Cant AJ; Great North Children's Hospital, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle upon Tyne University, Newcastle upon Tyne, United Kingdom.
Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
Arkwright PD; Lydia Becker Institute of Immunology & Inflammation, University of Manchester, Manchester, United Kingdom.
Casanova JL; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Howard Hughes Medical Institute, New York, New York, USA.
Su HC; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
Shah N; Pediatric Oncology Branch.
Hickstein DD; Experimental Transplantation and Immunology Branch, National Cancer Institute, NIH, Bethesda, Maryland, USA.
Tangye SG; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia.; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.
Ma CS; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, New South Wales, Australia.; Clinical Immunogenomics Research Consortium of Australia (CIRCA), Sydney, New South Wales, Australia.
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Źródło :
JCI insight [JCI Insight] 2019 Apr 25; Vol. 5. Date of Electronic Publication: 2019 Apr 25.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Hematopoietic Stem Cell Transplantation*
B-Lymphocytes/*immunology
Guanine Nucleotide Exchange Factors/*deficiency
Job Syndrome/*therapy
T-Lymphocytes/*immunology
Adolescent ; Adult ; Cell Differentiation/genetics ; Cell Differentiation/immunology ; Child ; Child, Preschool ; Humans ; Immunoglobulin E/blood ; Immunoglobulin E/immunology ; Job Syndrome/blood ; Job Syndrome/genetics ; Job Syndrome/immunology ; Lymphocyte Activation/genetics ; Treatment Outcome ; Young Adult
Czasopismo naukowe

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