المؤلفون: McAuley, Grace E, Yiu, Gloria, Chang, Patrick C, Newby, Gregory A, Campo-Fernandez, Beatriz, Fitz-Gibbon, Sorel T, Wu, Xiaomeng, Kang, Sung-Hae L, Garibay, Amber, Butler, Jeffrey, Christian, Valentina, Wong, Ryan L, Everette, Kelcee A, Azzun, Anthony, Gelfer, Hila, Seet, Christopher S, Narendran, Aru, Murguia-Favela, Luis, Romero, Zulema, Wright, Nicola, Liu, David R, Crooks, Gay M, Kohn, Donald B

المصدر: Cell. 186(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Research, Rare Diseases, Genetics, Stem Cell Research, Biotechnology, Stem Cell Research - Nonembryonic - Human, Regenerative Medicine, Transplantation, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Humans, Animals, Mice, T-Lymphocytes, Severe Combined Immunodeficiency, Gene Editing, Mice, SCID, CD3 Complex, Receptors, Antigen, T-Cell, CD3D severe combined immune deficiency, CITE-seq, artificial thymic organoid, base editing, hematopoietic stem and progenitor cells, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4z6394j3Test

المؤلفون: Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Eltan, Sevgi Bilgic, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Demirkol, Yasemin Kendir, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Heredia, Raul Jimenez, Kasap, Nurhan, Kiykim, Ayca, Yucel, Esra Ozek, Gok, Veysel, Unal, Ekrem, Kisaarslan, Aysenur Pac, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C, Ozen, Ahmet, Chatila, Talal A, Baris, Safa

المصدر: Allergy. 77(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Digestive Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Humans, Inflammatory Bowel Diseases, Microfilament Proteins, Mutation, Phenotype, Primary Immunodeficiency Diseases, CARMIL2, CD28 co-signaling, combined immune deficiency, inflammatory bowel disease, long-term follow-up, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8ck9t4htTest

المؤلفون: Baloh, Carolyn H, Borkar, Samiksha A, Chang, Kai-Fen, Yao, Jiqiang, Hershfield, Michael S, Parikh, Suhag H, Kohn, Donald B, Goodenow, Maureen M, Sleasman, John W, Yin, Li

المصدر: Journal of Clinical Immunology. 41(7)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Pediatric, Biotechnology, Clinical Research, Stem Cell Research, Genetics, Gene Therapy, Hematology, Good Health and Well Being, Adenosine Deaminase, Agammaglobulinemia, Enzyme Replacement Therapy, Female, Genetic Therapy, Humans, Immunoglobulin Heavy Chains, Infant, Lymphocyte Count, Severe Combined Immunodeficiency, Severe combined immune deficiency, adenosine deaminase deficiency, gene therapy, B cell repertoire, immunoglobulin sequencing, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9m49r249Test

المؤلفون: Kuo, Caroline Y, Garabedian, Elizabeth, Puck, Jennifer, Cowan, Morton J, Sullivan, Kathleen E, Buckley, Rebecca H, Cunningham-Rundles, Charlotte, Marsh, Rebecca, Candotti, Fabio, Kohn, Donald B

المصدر: Journal of clinical immunology. 40(8)

مصطلحات موضوعية: Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Adenosine Deaminase, Hematopoietic Stem Cell Transplantation, Registries, Child, Child, Preschool, Infant, Infant, Newborn, Disease Management, United States, Female, Male, Genetic Therapy, Public Health Surveillance, Infections, ADA-SCID, Adenosine deaminase–deficient severe combined immune deficiency, US Immunodeficiency Network, gene therapy, hematopoietic stem cell transplant, immunodeficiency, Pediatric, Regenerative Medicine, Pediatric Research Initiative, Stem Cell Research, Transplantation, Clinical Research, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Adenosine deaminase-deficient severe combined immune deficiency, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8rm448bcTest

المؤلفون: Keith A. Sacco, Andrea Gazzin, Luigi D. Notarangelo, Ottavia M. Delmonte

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: granuloma - etiology, combined immune deficiency, GLILD, rubella (MMR) vaccine, coccidiodomycosis, autoinflammatory and autoimmunological diseases, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1110115/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/53bd1d56d14c48b58cf5a4ffb2790c59Test

المؤلفون: Kohn, Donald B, Hershfield, Michael S, Puck, Jennifer M, Aiuti, Alessandro, Blincoe, Annaliesse, Gaspar, H Bobby, Notarangelo, Luigi D, Grunebaum, Eyal

المصدر: The Journal of allergy and clinical immunology. 143(3)

مصطلحات موضوعية: Animals, Humans, Agammaglobulinemia, Severe Combined Immunodeficiency, Adenosine Deaminase, Hematopoietic Stem Cell Transplantation, Consensus, Enzyme Replacement Therapy, Genetic Therapy, Adenosine deaminase deficiency, enzyme replacement therapy, gene therapy, hematopoietic stem cell transplantation, lentivirus, severe combined immune deficiency, Pediatric, Stem Cell Research, Transplantation, Clinical Research, Stem Cell Research - Nonembryonic - Human, Regenerative Medicine, Hematology, Stem Cell Research - Nonembryonic - Non-Human, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Immunology, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/01c257m4Test

المؤلفون: Mojca Železnik, Aneta Soltirovska Šalamon, Maruša Debeljak, Aleš Goropevšek, Nataša Šuštar, Damjana Ključevšek, Alojz Ihan, Tadej Avčin

المصدر: Frontiers in Immunology, Vol 13 (2023)

مصطلحات موضوعية: Aicardi–Goutières syndrome (AGS), IFIH1 gene, interferonopathy, Janus kinase inhibitor, combined immune deficiency, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033513/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/0d893e5433364629b656927ea39fc09dTest

المؤلفون: Tuovinen, Elina A., Pöysti, Sakari, Hamdan, Firas, Le, Kim My, Keskitalo, Salla, Turunen, Tanja, Minier, Lea, Mamia, Nanni, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Kere, Juha, Seppänen, Mikko R. J., Hänninen, Arno, Grönholm, Juha

المساهمون: TRIMM - Translational Immunology Research Program, HUS Children and Adolescents, Children's Hospital, Division of Pharmaceutical Biosciences, Drug Research Program, Faculty of Pharmacy, Digital Precision Cancer Medicine (iCAN), Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Joint Activities, Molecular Systems Biology, University of Helsinki, Biosciences, ImmunoViroTherapy Lab, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Medicum, Clinicum

مصطلحات موضوعية: X-linked combined immunodeficiency, Severe combined immunodeficiency, atypical, Interleukin receptor common subunit gamma, IL2RG, Gamma-delta T-cell receptor, COMBINED IMMUNE-DEFICIENCY, MISSENSE MUTATION, CHAIN, LYMPHOCYTES, ACTIVATION, ANTIGEN, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: Open Access funding provided by University of Helsinki including Helsinki University Central Hospital. Funding was received by Emil Aaltonen Foundation (ET, SP, and JG), Biomedicum Foundation (ET), The Finnish Medical Foundation (ET and JG), University of Helsinki Research Foundation (FH), Sigrid Juselius Foundation (JK and JG) and Jane and Aatos Erkko Foundation (VC and JK), Academy of Finland (MV, VC and JG), Pediatric Research Center (JG and MS), Finnish Pediatric Research Foundation (MS), Novo Nordisk Foundation (AH), European Research Council (VC), Cancer Finnish foundation (VC), Magnus Ehrnrooth Foundation (VC), and from HiLIFE (VC).; Tuovinen , E A , Pöysti , S , Hamdan , F , Le , K M , Keskitalo , S , Turunen , T , Minier , L , Mamia , N , Heiskanen , K , Varjosalo , M , Cerullo , V , Kere , J , Seppänen , M R J , Hänninen , A & Grönholm , J 2023 , ' Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling ' , Journal of Clinical Immunology , vol. 43 , no. 2 , pp. 358–370 . https://doi.org/10.1007/s10875-022-01375-6Test; ORCID: /0000-0002-1340-9732/work/128512887; ORCID: /0000-0001-5555-1975/work/128516612; ORCID: /0000-0001-9733-3650/work/128516726; ORCID: /0000-0002-4190-0000/work/128517370; ORCID: /0000-0001-8960-7164/work/128518476; fc32c30f-f444-43ac-9e01-287dd1643ebd; http://hdl.handle.net/10138/354198Test; 000870089600001

الإتاحة: http://hdl.handle.net/10138/354198Test

المؤلفون: Kalpana George, Geeta Govindaraj

المصدر: Pathogens; Volume 12; Issue 2; Pages: 272

مصطلحات موضوعية: infections, inborn errors of immunity, combined immune deficiency

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Immunological Responses and Immune Defense Mechanisms; https://dx.doi.org/10.3390/pathogens12020272Test

الإتاحة: https://doi.org/10.3390/pathogens12020272Test

المؤلفون: Gemici Karaaslan, Betul, Turan, Isilay, Aydemir, Sezin, Akyuncu Meric, Zeynep, Atay, Didem, Akcay, Arzu, Sari, Aysun Ayaz

مصطلحات موضوعية: Purine nucleoside phosphorylase deficiency, Neuromotor development, Hematopoietic stem cell transplantation, Combined immune deficiency, Bone-Marrow-Transplantation, Developmental Delay, Mutations, Child, Lymphopenia, Dysfunction, Diagnosis

وصف الملف: application/pdf

العلاقة: Journal of Clinical Immunology; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1007/s10875-023-01585-6Test; https://hdl.handle.net/20.500.12831/18236Test; WOS:001067351400001; 2-s2.0-85171468618

الإتاحة: https://doi.org/10.1007/s10875-023-01585-6Test
https://doi.org/20.500.12831/18236Test
https://hdl.handle.net/20.500.12831/18236Test