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Wyświetlanie 1-2 z 2
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 :
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Autorzy :
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. .; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Li J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Lin JX; Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Ma CS; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales 2052, Australia.
Li P; Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Bousfiha A; Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Pellier I; Pediatric Hemato-Oncology Unit, University Hospital of Angers, 49933 Angers, France.
Zoghi S; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran 1419733151, Iran.; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Baris S; Marmara University School of Medicine, Department of Pediatrics, Division of Allergy and Immunology, 34899 Istanbul, Turkey.
Keles S; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, 42060 Konya, Turkey.
Gray P; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Randwick, New South Wales 2031, Australia.; School of Women's and Children's Health, University of New South Wales School of Women's and Children's Health, Sydney, New South Wales 2031, Australia.
Du N; Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Wang Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Zerbib Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Leclercq T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
About F; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Lim AI; Innate Immunity Unit, Institut Pasteur, 75015 Paris, France.; INSERM U1223, 75015 Paris, France.
Rao G; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Payne K; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Pelham SJ; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales 2052, Australia.
Avery DT; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.
Deenick EK; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales 2052, Australia.
Pillay B; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales 2052, Australia.
Chou J; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Guery R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.; Unit of Tropical and Infectious Diseases, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.
Belkadi A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Guérin A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Ailal F; Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Benhsaien I; Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.
Habib T; Sidra Medicine, Doha, Qatar.
Chaussabel D; Sidra Medicine, Doha, Qatar.
Marr N; Sidra Medicine, Doha, Qatar.
El-Benna J; INSERM-U1149, CNRS-ERL8252, Center for Research on Inflammation, Labex Inflamex, Paris Diderot University, Faculté de Médecine, Xavier Bichat Medical School, 75018 Paris, France.
Grimbacher B; Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Wargon O; Department of Paediatric Dermatology, Sydney Children's Hospital, High Street, Randwick, New South Wales 2031, Australia.
Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.; Study Center for Immunodeficiency, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Müller-Fleckenstein I; Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Fleckenstein B; Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Chandesris MO; Department of Hematology, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Referral Center for Immunodeficiency, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Titeux M; Paris Descartes University, Imagine Institute, 75015 Paris, France.; Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, INSERM U1163, 75015 Paris, France.
Fraitag S; Department of Pathology, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Alyanakian MA; Immunology Laboratory, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Leruez-Ville M; Virology Laboratory, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Paris Descartes University, EA 73-28, 75015 Paris, France.
Picard C; Paris Descartes University, Imagine Institute, 75015 Paris, France.; Study Center for Immunodeficiency, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Paris Descartes University, EA 73-28, 75015 Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Meyts I; Department of Immunology and Microbiology, Childhood Immunology, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000 Leuven, Belgium.
Di Santo JP; Innate Immunity Unit, Institut Pasteur, 75015 Paris, France.; INSERM U1223, 75015 Paris, France.
Hovnanian A; Paris Descartes University, Imagine Institute, 75015 Paris, France.; Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, INSERM U1163, 75015 Paris, France.; Department of Genetics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.
Somer A; Istanbul University, Istanbul Medical Faculty, Division of Infectious Diseases and Immunology, 34452 Istanbul, Turkey.
Ozen A; Marmara University School of Medicine, Department of Pediatrics, Division of Allergy and Immunology, 34899 Istanbul, Turkey.
Rezaei N; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran 1419733151, Iran.; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Chatila TA; Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France.; Paris Descartes University, Imagine Institute, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Leonard WJ; Laboratory of Molecular Immunology and the Immunology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1674, USA.
Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales 2010, Australia.; St. Vincent's Clinical School, University of New South Wales, Sydney, New South Wales 2052, Australia.
Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. .; Paris Descartes University, Imagine Institute, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris, France. .; Paris Descartes University, Imagine Institute, 75015 Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Howard Hughes Medical Institute, New York, NY 10065, USA.
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Źródło :
Science immunology [Sci Immunol] 2018 Jun 15; Vol. 3 (24).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation/*immunology
Job Syndrome/*genetics
STAT3 Transcription Factor/*genetics
Transcription Factors/*genetics
Transcription, Genetic/*immunology
Adolescent ; Adult ; Cell Differentiation/genetics ; Cell Differentiation/immunology ; Cell Nucleus/metabolism ; Consanguinity ; Cytokines/immunology ; Cytokines/metabolism ; Exons/genetics ; Female ; Genes, Recessive/genetics ; Genes, Recessive/immunology ; Homozygote ; Humans ; Immunoglobulin E/blood ; Immunoglobulin E/immunology ; Job Syndrome/blood ; Job Syndrome/immunology ; Loss of Function Mutation ; Lymphocyte Count ; Male ; Middle Aged ; Pedigree ; Promoter Regions, Genetic/genetics ; RNA, Messenger/metabolism ; STAT3 Transcription Factor/immunology ; STAT3 Transcription Factor/metabolism ; Th17 Cells/immunology ; Th17 Cells/metabolism ; Th2 Cells/immunology ; Th2 Cells/metabolism ; Transcription Factors/immunology ; Transcription Factors/metabolism ; Whole Exome Sequencing ; Young Adult ; Zinc Fingers/genetics
Czasopismo naukowe
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