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Tytuł :
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia
Autorzy :
Alodayani, Abdulrahman N.
Al-Otaibi, Abdulnasir M.
Deswarte, CarolineAff2, Aff3
Frayha, Husn Habib
Bouaziz, MatthieuAff2, Aff3
AlHelale, Maryam
Le Voyer, TomAff2, Aff3
Nieto-Patlan, AlejandroAff2, Aff3
Rattina, VimelAff2, Aff3
AlZahrani, Mofareh
Halwani, RabihAff4, Aff6
Al Sohime, Fahad
Al-Mousa, Hamoud
Al-Muhsen, SalehAff4, Aff6
Alhajjar, Sami H.
Dhayhi, Nabil S.
Abel, LaurentAff2, Aff3, Aff8
Casanova, Jean-LaurentAff2, Aff3, Aff8, Aff9, Aff10
Bin-Hussain, Ibrahim
AlBarrak, May S.
Al-Jumaah, Suliman A.
Bustamante, JacintaAff2, Aff3, Aff8, Aff11
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Źródło :
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 38(3):278-282
Czasopismo naukowe
Tytuł :
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.
Autorzy :
About, Frédégonde
Bibert, Stéphanie
Jouanguy, Emmanuelle
Nalpas, Bertrand
Lorenzo, Lazaro
Rattina, Vimel
Zarhrate, Mohammed
Hanein, Sylvain
Munteanu, Mona
Müllhaupt, Beat
Semela, David
Semmo, Nasser
Casanova, Jean-Laurent
Theodorou, Ioannis
Sultanik, Philippe
Poynard, Thierry
Pol, Stanislas
Bochud, Pierre-Yves
Cobat, Aurélie
Abel, Laurent
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Temat :
Brief Research Report
HCV-related liver fibrosis
exome sequencing
rare-variant association study
Genetics
610 Medicine & health
TGF-beta
endoglin
Źródło :
About, Frédégonde; Bibert, Stéphanie; Jouanguy, Emmanuelle; Nalpas, Bertrand; Lorenzo, Lazaro; Rattina, Vimel; Zarhrate, Mohammed; Hanein, Sylvain; Munteanu, Mona; Müllhaupt, Beat; Semela, David; Semmo, Nasser; Casanova, Jean-Laurent; Theodorou, Ioannis; Sultanik, Philippe; Poynard, Thierry; Pol, Stanislas; Bochud, Pierre-Yves; Cobat, Aurélie and Abel, Laurent (2019). Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing. Frontiers in genetics, 10(1024), p. 1024. Frontiers Media SA 10.3389/fgene.2019.01024
Opis pliku :
application/pdf
Tytuł :
Inherited p40^{phox} deficiency differs from classic chronic granulomatous disease
Autorzy :
van de Geer, Annemarie
Nieto-Patlán, Alejandro
Kuhns, Douglas B.
Tool, Anton T. J.
Arias, Andrés A.
Bouaziz, Matthieu
de Boer, Martin
Franco, José Luis
Gazendam, Roel P.
van Hamme, John L.
van Houdt, Michel
van Leeuwen, Karin
Verkuijlen, Paul J. H.
van den Berg, Timo K.
Alzate, Juan F.
Arango-Franco, Carlos A.
Batura, Vritika
Bernasconi, Andrea R.
Boardman, Barbara
Booth, Claire
Burns, Siobhan O.
Cabarcas, Felipe
Bensussan, Nadine Cerf
Charbit-Henrion, Fabienne
Corveleyn, Anniek
Deswarte, Caroline
Azcoiti, María Esnaola
Foell, Dirk
Gallin, John I.
Garcés, Carlos
Guedes, Margarida
Hinze, Claas H.
Holland, Steven M.
Hughes, Stephen M.
Ibañez, Patricio
Malech, Harry L.
Meyts, Isabelle
Moncada-Velez, Marcela
Moriya, Kunihiko
Neves, Esmeralda
Oleastro, Matias
Perez, Laura
Rattina, Vimel
Oleaga-Quintas, Carmen
Warner, Neil
Muise, Aleixo M.
López, Jeanet Serafín
Trindade, Eunice
Vasconcelos, Julia
Vermeire, S. verine
Wittkowski, Helmut
Worth, Austen
Abel, Laurent
Dinauer, Mary C.
Arkwright, Peter D.
Roos, Dirk
Casanova, Jean-Laurent
Kuijpers, Taco W.
Bustamante, Jacinta
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Temat :
Medicine, Research & Experimental
infection
Research Article
chronic granulomatous disease
Genetics, Immunology, Inflammatory bowel disease, Macrophages, Neutrophils
Research & Experimental Medicine
phagocyte
NADPH OXIDASE
IFN-GAMMA
Macrophages
Genetics
hyperinflammation
STAPHYLOCOCCUS-AUREUS
Immunology
Neutrophils
MYCOBACTERIAL DISEASE
b_open_article_in_toll_access_journal
NADPH oxidase
Life Sciences & Biomedicine
INFLAMMATORY-BOWEL-DISEASE
Science & Technology
Inflammatory bowel disease
MOLECULAR DIAGNOSIS
NCF4
CROHNS-DISEASE
ASPERGILLUS-FUMIGATUS
NEUTROPHIL RESPIRATORY BURST
Źródło :
Journal of Clinical Investigation, 128(9), 3957 - 3975. The American Society for Clinical Investigation
Journal of clinical investigation, 128(9), 3957 - 3975. The American Society for Clinical Investigation
Boardman, B, Hughes, S, Arkwright, P & et al 2018, ' Inherited p40phox deficiency differs from classic chronic granulomatous disease ', Journal of Clinical Investigation . https://doi.org/10.1172/JCI97116
The Journal of Clinical Investigation, 128 (9) pp. 3957-3975. (2018)
Opis pliku :
application/pdf; Print-Electronic; text
Tytuł :
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
Autorzy :
Hernandez, Nicholas
Melki, Isabelle
Jing, Huie
Habib, Tanwir
Huang, Susie S Y
Danielson, Jeffrey
Kula, Tomasz
Drutman, Scott
Belkaya, Serkan
Rattina, Vimel
Lorenzo-Diaz, Lazaro
Boulai, Anais
Rose, Yoann
Kitabayashi, Naoki
Rodero, Mathieu P
Dumaine, Cecile
Blanche, Stéphane
Lebras, Marie-Noëlle
Leung, Man Chun
Mathew, Lisa Sara
Boisson, Bertrand
Zhang, Shen-Ying
Boisson-Dupuis, Stephanie
Giliani, Silvia
Chaussabel, Damien
Notarangelo, Luigi D
Elledge, Stephen J
Ciancanelli, Michael J
Abel, Laurent
Zhang, Qian
Marr, Nico
Crow, Yanick J
Su, Helen C
Casanova, Jean-Laurent
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Źródło :
Hernandez, N, Melki, I, Jing, H, Habib, T, Huang, S S Y, Danielson, J, Kula, T, Drutman, S, Belkaya, S, Rattina, V, Lorenzo-Diaz, L, Boulai, A, Rose, Y, Kitabayashi, N, Rodero, M P, Dumaine, C, Blanche, S, Lebras, M-N, Leung, M C, Mathew, L S, Boisson, B, Zhang, S-Y, Boisson-Dupuis, S, Giliani, S, Chaussabel, D, Notarangelo, L D, Elledge, S J, Ciancanelli, M J, Abel, L, Zhang, Q, Marr, N, Crow, Y J, Su, H C & Casanova, J-L 2018, ' Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency ', Journal of Experimental Medicine . https://doi.org/10.1084/jem.20180628
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 :
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.
Autorzy :
Hernandez N; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Melki I; Pediatric Immunology-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.; General Pediatrics, Infectious Disease and Internal Medicine Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, France.; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Jing H; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Habib T; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Huang SSY; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Danielson J; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Kula T; Division of Genetics, Department of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Drutman S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Belkaya S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Lorenzo-Diaz L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Boulai A; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Rose Y; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Kitabayashi N; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Rodero MP; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.
Dumaine C; Pediatric Immunology-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.; General Pediatrics, Infectious Disease and Internal Medicine Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, France.
Blanche S; Pediatric Immunology-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Lebras MN; Pediatric Pulmonology, Infectious Disease and Internal Medicine Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, France.
Leung MC; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Mathew LS; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Giliani S; Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy.
Chaussabel D; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Elledge SJ; Division of Genetics, Department of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA.
Ciancanelli MJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Marr N; Division of Translational Medicine, Sidra Medicine, Doha, Qatar.
Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Institut National de la Santé et de la Recherche Médicale UMR 1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Su HC; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY .; Pediatric Immunology-Hematology and Rheumatology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY.
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Źródło :
The Journal of experimental medicine [J Exp Med] 2018 Oct 01; Vol. 215 (10), pp. 2567-2585. Date of Electronic Publication: 2018 Aug 24.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Homozygote*
Influenza, Human*/genetics
Influenza, Human*/immunology
Influenza, Human*/pathology
Pneumonia, Viral*/genetics
Pneumonia, Viral*/immunology
Pneumonia, Viral*/pathology
Interferon-Stimulated Gene Factor 3, gamma Subunit/*deficiency
Orthomyxoviridae/*immunology
Female ; Humans ; Infant ; Interferon alpha-2/genetics ; Interferon alpha-2/immunology ; Interferon-Stimulated Gene Factor 3, gamma Subunit/immunology
Czasopismo naukowe
Tytuł :
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
Autorzy :
van de Geer A; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Nieto-Patlán A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico.
Kuhns DB; Neutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
Tool AT; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Arias AA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia.
Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
de Boer M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Gazendam RP; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
van Hamme JL; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
van Houdt M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
van Leeuwen K; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Verkuijlen PJ; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
van den Berg TK; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Molecular Cell Biology and Immunology, VU Medical Center, VU University, Amsterdam, Netherlands.
Alzate JF; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.
Arango-Franco CA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia.
Batura V; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Bernasconi AR; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Boardman B; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Booth C; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom.
Burns SO; Institute of Immunity and Transplantation, University College London, London, United Kingdom.; Department of Clinical Immunology, Royal Free London, NHS Foundation Trust, London, United Kingdom.
Cabarcas F; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.; SISTEMIC Group, Electronic Engineering Department, University of Antioquia, Medellin, Colombia.
Bensussan NC; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France.
Charbit-Henrion F; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France.; Pediatric Gastroenterology, Hepatology and Nutrition Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.
Corveleyn A; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Azcoiti ME; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Immunology, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.
Foell D; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
Gallin JI; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.
Garcés C; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Guedes M; Department of Pediatrics, Santo Antonio Hospital, Porto, Portugal.
Hinze CH; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
Holland SM; Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA.
Hughes SM; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Ibañez P; Inflammatory Bowel Disease Program, Gastroenterology Department, Clinic Las Condes Medical Center, University of Chile, Santiago de Chile, Chile.
Malech HL; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA.
Meyts I; Department of Pediatric Hematology and Oncology and.; Department of Microbiology and Immunology, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Moncada-Velez M; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.
Moriya K; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Neves E; Department of Immunology, Santo Antonio Hospital, Porto, Portugal.
Oleastro M; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Perez L; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina.
Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.
Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and.
Muise AM; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and.; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
López JS; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico.
Trindade E; Pediatric Gastroenterology Unit, Sao Joao Hospital, Porto, Portugal.
Vasconcelos J; Department of Immunology, Santo Antonio Hospital, Porto, Portugal.
Vermeire S; Division of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.; Department of Experimental Medicine, KU Leuven, Leuven, Belgium.
Wittkowski H; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany.
Worth A; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Dinauer MC; Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.
Arkwright PD; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom.
Roos D; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA.; Pediatric Hematology and Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.
Kuijpers TW; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam, Netherlands.; Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2018 Aug 31; Vol. 128 (9), pp. 3957-3975. Date of Electronic Publication: 2018 Aug 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Loss of Function Mutation*
Granulomatous Disease, Chronic/*genetics
Phosphoproteins/*deficiency
Phosphoproteins/*genetics
Adolescent ; Adult ; Alleles ; Child ; Child, Preschool ; Female ; Gene Knockout Techniques ; Granulomatous Disease, Chronic/diagnosis ; Granulomatous Disease, Chronic/metabolism ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Mutant Proteins/genetics ; Mutant Proteins/metabolism ; NADPH Oxidases/genetics ; NADPH Oxidases/metabolism ; Pedigree ; Phagocytes/immunology ; Phagocytes/metabolism ; Phagocytes/microbiology ; Phenotype ; Phosphoproteins/metabolism ; Prognosis ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Transduction, Genetic ; Young Adult
Czasopismo naukowe
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
Tytuł :
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.
Autorzy :
Alodayani AN; Division of Infectious Diseases, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Al-Otaibi AM; Division of Infectious Diseases, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.
Frayha HH; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.
AlHelale M; Division of Infectious Diseases, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.
Nieto-Patlan A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.
Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.
AlZahrani M; Section of Pediatric, Allergy and Immunology, Children Specialized Hospital, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Halwani R; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Immunology Research Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al Sohime F; Immunology Research Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al-Mousa H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Muhsen S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Immunology Research Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alhajjar SH; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Dhayhi NS; Department of Pediatrics, King Fahad Specialist Hospital, Gizan, Saudi Arabia.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York City, NY, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York City, NY, USA.; Howard Hughes Medical Institute, New York City, NY, USA.; Pediatric Hematology-Immunology Unit, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France.
Bin-Hussain I; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlBarrak MS; Division of Infectious Diseases, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Al-Jumaah SA; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France. .; Paris Descartes University, Paris, France. .; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York City, NY, USA. .; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France. .
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Źródło :
Journal of clinical immunology [J Clin Immunol] 2018 Apr; Vol. 38 (3), pp. 278-282. Date of Electronic Publication: 2018 Mar 27.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Founder Effect*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Interleukin-12 Subunit p40/*genetics
Mycobacterium Infections/*etiology
Child, Preschool ; DNA Mutational Analysis ; Exome ; Female ; Humans ; Infant ; Male ; Mycobacterium Infections/diagnosis ; Mycobacterium Infections/therapy ; Pedigree ; Saudi Arabia ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
IRF4 haploinsufficiency in a family with Whipple's disease.
Autorzy :
Guérin A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Kerner G; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Marr N; Sidra Medicine, Doha, Qatar.
Markle JG; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Fenollar F; Research Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Wong N; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Boughorbel S; Sidra Medicine, Doha, Qatar.
Avery DT; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Ma CS; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Bougarn S; Sidra Medicine, Doha, Qatar.
Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Della Mina E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Lazarov T; Immunology Program, Memorial Sloan Kettering Cancer Center, New York, United States.; Ludwig Center, Memorial Sloan Kettering Cancer Center, New York, United States.
Worley L; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Nguyen T; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Patin E; Human Evolutionary Genetics Unit, Department of Genomes and Genetics, Institut Pasteur, Paris, France.; CNRS UMR2000, Paris, France.; Center of Bioinformatics, Biostatistics and Integrative Biology, Institut Pasteur, Paris, France.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Martinez-Barricarte R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Boucherit S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Ayral X; Rheumatology Unit, Cochin Hospital, Paris, France.
Edouard S; Research Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.
Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Vogt G; Imagine Institute, Paris Descartes University, Paris, France.
Geissmann F; Immunology Program, Memorial Sloan Kettering Cancer Center, New York, United States.; Ludwig Center, Memorial Sloan Kettering Cancer Center, New York, United States.; Weill Cornell Graduate School of Medical Sciences, New York, United States.
Quintana-Murci L; Human Evolutionary Genetics Unit, Department of Genomes and Genetics, Institut Pasteur, Paris, France.; CNRS UMR2000, Paris, France.; Center of Bioinformatics, Biostatistics and Integrative Biology, Institut Pasteur, Paris, France.
Chaussabel D; Sidra Medicine, Doha, Qatar.
Tangye SG; Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Raoult D; Research Unit of Infectious and Tropical Emerging Diseases, University Aix-Marseille, URMITE, UM63, CNRS 7278, IRD 198, Marseille, France.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.
Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Imagine Institute, Paris Descartes University, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, United States.; Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, United States.
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Źródło :
ELife [Elife] 2018 Mar 14; Vol. 7. Date of Electronic Publication: 2018 Mar 14.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Haploinsufficiency/*genetics
Interferon Regulatory Factors/*genetics
Tropheryma/*genetics
Whipple Disease/*genetics
Aged ; Aged, 80 and over ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Leukocytes/microbiology ; Male ; Middle Aged ; Mutation ; Pedigree ; Penetrance ; Tropheryma/pathogenicity ; Whipple Disease/microbiology ; Whipple Disease/pathology
Czasopismo naukowe

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