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1دورية أكاديمية
المؤلفون: Korol, Cecilia B.Aff1, Aff2, Belkaya, SerkanAff3, Aff4, Alsohime, Fahad, Lorenzo, LazaroAff1, Aff2, Boisson-Dupuis, StéphanieAff1, Aff2, Aff3, Brancale, Joseph, Neehus, Anna-LenaAff1, Aff2, Vilarinho, Silvia, Zobaida, Alsum, Halwani, Rabih, Al-Muhsen, SalehAff5, Aff7, Casanova, Jean-LaurentAff1, Aff2, Aff3, Aff9, Aff10, Jouanguy, EmmanuelleAff1, Aff2, Aff3, IDs10875022013765_cor13
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(2):406-420
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2دورية أكاديمية
المؤلفون: Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Abdullah A. Alangari
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
مصطلحات موضوعية: inhibitor of kappa kinase beta/inhibitor of kappa kinase 2, IKBKB, combined immunodeficiency, hematopoietic stem cell transplant, delayed separation of the umbilical cord, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
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المؤلفون: Bandar Al-Saud, Saleh Al-Muhsen, Hamoud Al-Mousa, Zobaida Alsum, Rand Arnaout, Reem Mohammed, Fayhan Alrogi, Hasan Al-Dhekri, Amal H Aljohani, Anas M. Alazami, Manal Nicolas-Jilwan
المصدر: Journal of Clinical Immunology
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, TfR1, Anemia, Primary Immunodeficiency Diseases, Immunology, Neuroimaging, Gene mutation, Neutropenia, Young Adult, Antigens, CD, Internal medicine, Receptors, Transferrin, Humans, combined immunodeficiency, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Global developmental delay, Child, Genetic Association Studies, Immunodeficiency, Retrospective Studies, business.industry, a mutation in TFRC, medicine.disease, Magnetic Resonance Imaging, Transplantation, Phenotype, Child, Preschool, CD71, Mutation, Failure to thrive, Cohort, Female, Severe Combined Immunodeficiency, Original Article, Primary immune deficiency, medicine.symptom, business, Biomarkers
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المؤلفون: Majed Alabdulhafid, Zobaida Alsum, Fahad A. Bashiri, Abdullah A. Alangari, Jacinta Bustamante, Emmanuelle Jouanguy, Rabih Halwani, Malak Alghamdi, Hamdy H. Hassan, Dusan Bogunovic, Areej Rashid Alkahtani, Fahad Alsohime, Najla Alotaibi, Nouf Alkhamis, Mohamad-Hani Temsah, Marta Martín-Fernández, Conor Gruber, Ayman Al-Eyadhy, Saleh Al-Muhsen, Xueer Qiu, Gamal M Hasan, Tom Le Voyer, Sofija Buta, Jean-Laurent Casanova
المصدر: N Engl J Med
مصطلحات موضوعية: Male, Ruxolitinib, Inflammation, 030204 cardiovascular system & hematology, medicine.disease_cause, Systemic inflammation, Article, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Interferon, Nitriles, Exome Sequencing, medicine, Humans, Janus Kinase Inhibitors, 030212 general & internal medicine, Exome sequencing, Receptors, Interferon, Mutation, Kinase, business.industry, Interleukins, Hereditary Autoinflammatory Diseases, Homozygote, Remission Induction, Infant, Newborn, Janus Kinase 1, General Medicine, Shock, Septic, Pyrimidines, Respiratory failure, Immunology, Pyrazoles, Interferons, medicine.symptom, business, Ubiquitin Thiolesterase, Hydrocephalus, Signal Transduction, medicine.drug
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المؤلفون: Zobaida Alsum, Soraya Boucherit, Lluis Quintana-Murci, Peng Zhang, Luigi D. Notarangelo, Joseph A. Church, Daxing Gao, Rabih Halwani, Lazaro Lorenzo, Thomas M. Carlile, Maria F. Rojas-Duran, Ahmed Aziz Bousfiha, Yuval Itan, Laurent Abel, Flore Rozenberg, Fabien G. Lafaille, Wendy V. Gilbert, Jean-Laurent Casanova, Vimel Rattina, Marc Tessier-Lavigne, Lorenz Studer, Trine H. Mogensen, Bastian Zimmer, Benoit Henry, Søren R. Paludan, Shen-Ying Zhang, Franck Rapaport, Gregory A. Smith, Saleh Al-Muhsen, Michael J. Ciancanelli, Gaspard Kerner, Jessica L. McAlpine, Kerry Dobbs, Madalina E. Carter-Timofte, Laura Marques, Oliver Harschnitz, Osefame Ewaleifoh, Mary Hasek, Dominik Paquet, Marc Tardieu, Naima Amenzoui, Yoon Seung Lee, Dylan Kwart
المساهمون: Rockefeller University [New York], Memorial Sloane Kettering Cancer Center [New York], Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Northwestern University Feinberg School of Medicine, Aarhus University Hospital, National Institutes of Health [Bethesda] (NIH), Yale University [New Haven], Service de Virologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Sharjah, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Ibn Rochd University Hospital of Casablanca, University Hassan II of Casablanca, Morocco., King Saud University [Riyadh] (KSU), Centro Hospitalar do Porto, University of Southern California (USC), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Stanford University, This work was funded in part by the National Center for Advancing Translational Sciences, National Institutes of Health (NIH), Clinical and Translational Science Award program (grant nos. UL1TR000043 and UL1TR001866), NIH grants (nos. R01AI088364 to J.L.C. and S.Y.Z., R01NS072381 to J.-L.C. and S.-Y.Z. and R01GM101316 to W.G.), a grant from the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (no. ANR-10-LABX-62-IBEID to L.A.) and the French National Research Agency (ANR) under the ‘Investments for the future’ program (no. ANR-10-IAHU-01 to L.A.), the ANR grant IEIHSEER (no. ANR-14-CE14-0008-01 to S.-Y.Z.), the Lundbeck Foundation (grant no. R268-2016-3927 to S.R.P.), the Rockefeller University, INSERM, Paris Descartes University and the St Giles Foundation., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-14-CE14-0008,IEIHSEER,L'encéphalite Herpétique de l'enfant résulte de déficits héréditaires d'immunité contre l'HSV-1: une exception ou une règle?(2014), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), Hôpital Cochin [AP-HP], Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Southern California [Los Angeles, CA, USA], Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)
المصدر: Lafaille, F G, Harschnitz, O, Lee, Y S, Zhang, P, Hasek, M L, Kerner, G, Itan, Y, Ewaleifoh, O, Rapaport, F, Carlile, T M, Carter-Timofte, M E, Paquet, D, Dobbs, K, Zimmer, B, Gao, D, Rojas-Duran, M F, Kwart, D, Rattina, V, Ciancanelli, M J, McAlpine, J L, Lorenzo, L, Boucherit, S, Rozenberg, F, Halwani, R, Henry, B, Amenzoui, N, Alsum, Z, Marques, L, Church, J A, Al-Muhsen, S, Tardieu, M, Bousfiha, A A, Paludan, S R, Mogensen, T H, Quintana-Murci, L, Tessier-Lavigne, M, Smith, G A, Notarangelo, L D, Studer, L, Gilbert, W, Abel, L, Casanova, J L & Zhang, S Y 2019, ' Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis ', Nature Medicine, vol. 25, no. 12, pp. 1873-1884 . https://doi.org/10.1038/s41591-019-0672-3
Nature Medicine
Nature Medicine, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
Nature Medicine, Nature Publishing Group, 2019, 25 (12), pp.1873-1884. ⟨10.1038/s41591-019-0672-3⟩
Nature medicineمصطلحات موضوعية: Adult, Central Nervous System, Male, 0301 basic medicine, Intrinsic immunity, viruses, Central nervous system, Herpesvirus 1, Human, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Interferon, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, medicine, Humans, RNA, Small Nucleolar, Genetic Predisposition to Disease, Small nucleolar RNA, Neurons, Immunity, Infant, RNA, General Medicine, Middle Aged, 3. Good health, Cell biology, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, 030220 oncology & carcinogenesis, Forebrain, Metagenome, Female, Encephalitis, Herpes Simplex, Small nuclear RNA, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbe9bd2041435e0df6ada9573bd2856
https://pure.au.dk/portal/da/publications/human-snora31-variations-impair-cortical-neuronintrinsic-immunity-to-hsv1-and-underlie-herpes-simplex-encephalitis(81007800-1ad6-46e3-ab81-f589b19898cf).html -
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المؤلفون: Esteban Borrero, Bandar Al-Saud, Asm’a Abu-Staiteh, Hasan Al-Dhekri, Abdelmoneim M. Eldali, Osama Alsmadi, Hanif Khalak, Saleh Al-Muhsen, Abbas Hawwari, Zobaida Alsum, Hamoud Al-Mousa, Safa Alhissi, Salma M. Wakil, Rand Arnaout, A. Al-Ghonaium
المصدر: Journal of Clinical Immunology. 33:55-67
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Immunology, Saudi Arabia, Genes, Recessive, Disease, Single Center, Immunoglobulin E, Hospitals, Special, Medical microbiology, Secondary Prevention, medicine, Guanine Nucleotide Exchange Factors, Humans, Immunology and Allergy, Child, Immunodeficiency, biology, business.industry, Incidence, medicine.disease, Codon, Nonsense, Tyrosine kinase 2, Child, Preschool, Etiology, biology.protein, Female, Dock8, business, Job Syndrome, Gene Deletion
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المؤلفون: Saleh Al-Muhsen, Zobaida Alsum
المصدر: Annals of the New York Academy of Sciences. 1250:56-61
مصطلحات موضوعية: medicine.medical_specialty, Middle East, Traditional medicine, business.industry, General Neuroscience, Ethnic group, MEDLINE, Affect (psychology), medicine.disease, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Family medicine, medicine, Primary immunodeficiency, business
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المؤلفون: Julie Sawalle-Belohradsky, Beate Hagl, H. Bobby Gaspar, Gundula Notheis, Ferah Genel, László Maródi, Abbas Hawwari, Stephan Ehl, Kirsten Bienemann, Fatih Mehmet Azik, Ilhan Tezcan, Deniz Cagdas Ayvaz, Zobaida Alsum, Larysa Kostyuchenko, Hans D. Ochs, Valerie Heinz, Oscar Porras, Waleed Al-Herz, Gregor Dückers, Daifulah Al-Zahrani, Sara Sebnem Kilic, Vincent Barlogis, Talal A. Chatila, Leena Kainulainen, Robbert G. M. Bredius, Joris M. van Montfrans, Betul Tavil, Karin R. Engelhardt, Benjamin Gathmann, Ashish R Kumar, Jens Thiel, Michael H. Albert, Alexandra F. Freeman, Andrew R. Gennery, Neslihan Edeer Karaca, Raif S. Geha, Sevgi Keles, Susanne Matthes-Martin, Roland C. Aydin, Ansgar Schulz, Sung-Yun Pai, Ayse Metin, Capucine Picard, Ozden Sanal, Marianne Ifversen, Bernd H. Belohradsky, Steven M. Holland, Manfred Hönig, Bodo Grimbacher, S. Aydin, Jordan S. Orange, Nima Rezaei, Helen Su, Ellen D. Renner, Carl Philipp Schwarze, Taco W. Kuijpers, Necil Kutukculer, Hamoud Al-Mousa, Jordan K. Abbott, Zeina Baz, Caner Aytekin, Luis Ignacio Gonzalez-Granado
المساهمون: AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology
المصدر: Journal of Clinical Immunology, 35(2), 189. Springer New York
Journal of clinical immunology, 35(2), 189-198. Springer New Yorkمصطلحات موضوعية: Male, DOCK8 deficiency, medicine.medical_treatment, Hematopoietic stem cell transplantation, Disease, THERAPY, Cohort Studies, STAT3, Neoplasms, Guanine Nucleotide Exchange Factors, Immunology and Allergy, combined immunodeficiency, Child, Stroke, Immunodeficiency, Incidence, Middle Aged, Phenotype, INFECTIONS, Child, Preschool, Cohort, SURVIVAL, Female, Dock8, Job Syndrome, natural outcome, Cohort study, Adult, medicine.medical_specialty, Adolescent, Immunology, Research Support, Malignancy, WISKOTT-ALDRICH SYNDROME, N.I.H, Young Adult, Internal medicine, medicine, Journal Article, Humans, Lymphocyte Count, Genetic Association Studies, Intramural, HYPER-IGE SYNDROME, business.industry, MUTATIONS, Infant, STEM-CELL TRANSPLANTATION, Immunoglobulin E, medicine.disease, Research Support, N.I.H., Intramural, Lymphocyte Subsets, Surgery, DEDICATOR, Mutation, CYTOKINESIS 8 DEFICIENCY, business, Follow-Up Studies
وصف الملف: image/pdf
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المؤلفون: Amal Al-Seraihy, Hamoud Al-Mousa, Abdulaziz Al-Ghonaium, Bandar Al-Saud, Rand Arnaout, Hasan Al-Dhekri, Mouhab Ayas, Zobaida Alsum, Saleh Al-Muhsen, Abbas Hawwari
المصدر: Clinical Immunology. 143:96-98
مصطلحات موضوعية: medicine.medical_specialty, Text mining, business.industry, Internal medicine, Immunology, medicine, Immunology and Allergy, business, Outcome (game theory)