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المؤلفون: Emily Avitan-Hersh, Polina Stepensky, Reuven Bergman, Irina Zaidman, Mariela Judith Nevet, Suhair Hanna
المصدر: The American Journal of Dermatopathology. 42:e11-e15
مصطلحات موضوعية: Adolescent, Dermatology, CD8-Positive T-Lymphocytes, medicine.disease_cause, Pathology and Forensic Medicine, Autoimmunity, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Cytotoxic T cell, Immunodeficiency, Homeodomain Proteins, business.industry, Common variable immunodeficiency, Immunologic Deficiency Syndromes, General Medicine, medicine.disease, Lymphoproliferative Disorders, Lymphoma, Immunology, Female, business, CD8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c3c125402f1caeaabead0194a06aa3Test
https://doi.org/10.1097/dad.0000000000001492Test -
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المؤلفون: Elif Dokmeci, Keith Wilson, Selket Delafontaine, Federica Barzaghi, Simone Cesaro, Jennifer A. Kanakry, Despina Moshous, Sophie Hambleton, Robbert G. M. Bredius, Dimana Dimitrova, Mervi Taskinen, Florian Babor, İkbal Ok Bozkaya, Hasan Hashem, Robert A. Krance, Michael S. Hershfield, Nurten A. Akarsu, Seza Ozen, Polina Stepensky, David Boutboul, Ghadir S. Sasa, Joel P Brooks, Sandra Steinmann, Jignesh Dalal, Isabelle Meyts, Amy P. Hsu, Caroline Schnider, Dennis D. Hickstein, Yener Koc, Guillaume Le Guenno, Minna Koskenvuo, Chip Chambers, Tayfun Güngör, Maria Pia Cicalese, Fabio Candotti, Valentina Baretta, Steven M. Holland, Ingo Müller, Jasmeen Dara, Neven Benedicte, Giorgia Bucciol, Amanda K. Ombrello, Janna Saarela, Stephen Jolles, Ashish R Kumar, Sule Unal, Carrie L. Lucas, Leen Moens, Joris M. van Montfrans, Monica Abreu de Sousa, Ansgar Schulz
المساهمون: Hashem, H., Bucciol, G., Ozen, S., Unal, S., Bozkaya, I. O., Akarsu, N., Taskinen, M., Koskenvuo, M., Saarela, J., Dimitrova, D., Hickstein, D. D., Hsu, A. P., Holland, S. M., Krance, R., Sasa, G., Kumar, A. R., Muller, I., de Sousa, M. A., Delafontaine, S., Moens, L., Babor, F., Barzaghi, F., Cicalese, M. P., Bredius, R., van Montfrans, J., Baretta, V., Cesaro, S., Stepensky, P., Benedicte, N., Moshous, D., Le Guenno, G., Boutboul, D., Dalal, J., Brooks, J. P., Dokmeci, E., Dara, J., Lucas, C. L., Hambleton, S., Wilson, K., Jolles, S., Koc, Y., Gungor, T., Schnider, C., Candotti, F., Steinmann, S., Schulz, A., Chambers, C., Hershfield, M., Ombrello, A., Kanakry, J. A., Meyts, I., HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, Clinicum, HUSLAB, Janna Saarela / Principal Investigator, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki
المصدر: Journal of Clinical Immunology, 41(7), 1633-1647. SPRINGER/PLENUM PUBLISHERS
Journal of clinical immunology, vol. 41, no. 7, pp. 1633-1647
Journal of Clinical Immunologyمصطلحات موضوعية: 0301 basic medicine, Adenosine Deaminase 2 Deficiency, Male, Adenosine Deaminase, Graft vs Host Disease, Kaplan-Meier Estimate, PHENOTYPE, Gastroenterology, 0302 clinical medicine, Agammaglobulinemia, hemic and lymphatic diseases, Immunology and Allergy, Child, Immunodeficiency, Hematopoietic cell transplantation, Hematopoietic Stem Cell Transplantation, Deficiency of adenosine deaminase 2, 3. Good health, Treatment Outcome, Child, Preschool, RESCUES, Autoinflammation, Intercellular Signaling Peptides and Proteins, Female, Original Article, medicine.symptom, VASCULOPATHY, Life Sciences & Biomedicine, Adult, medicine.medical_specialty, Adolescent, DADA2, Immunology, ADA2 DEFICIENCY, Malignancy, 03 medical and health sciences, Young Adult, Bone marrow failure, Inborn error of immunity, Internal medicine, medicine, Humans, Retrospective Studies, 030203 arthritis & rheumatology, Cytopenia, Science & Technology, business.industry, Polyarteritis nodosa, Livedo racemosa, Bone Marrow Failure Disorders, medicine.disease, Transplantation, 030104 developmental biology, 3121 General medicine, internal medicine and other clinical medicine, Severe Combined Immunodeficiency, business
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ace541f0425652c858e94ad95ce9362Test
https://link.springer.com/content/pdf/10.1007/s10875-021-01098-0.pdfTest -
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المؤلفون: Elif Karakoc-Aydiner, Safa Baris, Felicitas Oberndorfer, Klaus Warnatz, Kaan Boztug, Deniz Cagdas, Selda Hançerli Törün, Lisa Worley, Ahmet Ozen, Müge Toyran, Polina Stepensky, Daniel Christ, Sevgi Köstel Bal, Daniel Mayr, Ozden Sanal, Anne Durandy, Elif Soyak Aytekin, Stuart G. Tangye, Raziye Atan, Ayşe Metin, Jasmin Dmytrus, Aysegul Uner, Ana-Iris Schiefer, Gülsün Karasu, Gulbu Uzel, David B. Langley, Bénédicte Neven, Ilhan Tezcan, Raul Jimenez Heredia, Baerbel Keller, Elissa K. Deenick, Cindy S. Ma, Baris Kuskonmaz, Duygu Uckan-Cetinkaya, Nurhan Kasap
المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tezcan Karasu, Gulsun, Cagdas, Deniz, Mayr, Daniel, Baris, Safa, Worley, Lisa, Langley, David B., Metin, Ayse, Aytekin, Elif Soyak, Atan, Raziye, Kasap, Nurhan, Bal, Sevgi Koestel, Dmytrus, Jasmin, Heredia, Raul Jimenez, Karasu, Gulsun, Torun, Selda Hancerli, Toyran, Muge, Karakoc-Aydiner, Elif, Christ, Daniel, Kuskonmaz, Baris, Uckan-Cetinkaya, Duygu, Uner, Aysegul, Oberndorfer, Felicitas, Schiefer, Ana-Iris, Uzel, Gulbu, Deenick, Elissa K., Keller, Baerbel, Warnatz, Klaus, Neven, Benedicte, Durandy, Anne, Sanal, Ozden, Ma, Cindy S., Ozen, Ahmet, Stepensky, Polina, Tezcan, Ilhan, Boztug, Kaan, Tangye, Stuart G.
المصدر: Journal of Clinical Immunology
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_treatment, Cryptosporidiosis, Disease, Hematopoietic stem cell transplantation, Immunoglobulin E, Lymphocyte Activation, Hypogammaglobulinemia, IL-21/IL-21R Signaling, STAT3, 0302 clinical medicine, IL-21, Immunology and Allergy, Child, Exome, Immunodeficiency, B-Lymphocytes, biology, Lymphocyte differentiation, Interleukin-21 Receptor alpha Subunit, Cell Differentiation, Genomics, Phenotype, Child, Preschool, Female, Persistent Infection, Original Article, Signal Transduction, Adolescent, T Follicular Helper Cells, Immunology, Cryptosporidium, 03 medical and health sciences, Young Adult, Immune system, Memory B Cells, medicine, Humans, B Cell Differentiation, IL-21R signaling, business.industry, Infant, medicine.disease, Immunity, Humoral, 030104 developmental biology, biology.protein, business, 030215 immunology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707bebf6a90121c9896813f4ae1469a2Test
https://hdl.handle.net/20.500.12713/1715Test -
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المؤلفون: Bella Shadur, Andrew R. Gennery, Nurcicek Padem, Anna Mukhina, Polina Stepensky, Svetlana O. Sharapova, Sara Sebnem Kilic, Magdalena Avbelj Stefanija, Luis I. Gonzales-Granado, Isabelle Meyts, Jacques G. Rivière, Filomeen Haerynck, Joachim Zobel, Benoit Florkin, Laura Gamez, Vedat Uygun, Nicolette Moes, Neslihan Edeer Karaca, Lennart Hammarström, Anke M.J. Peters, Bodo Grimbacher, Sevgi Köstel Bal, Aydan Ikinciogullari, Zahra Chavoshzadeh, Joris M. van Montfrans, Sule Haskologlu, Hassan Abolhassani, Necil Kutukculer, Safa Baris, Yuliya Mareika, Juan Luis Santos Perez, Elif Karakoc-Aydiner, Asghar Aghamohammadi, Mehdi Adeli, Antonio Marzollo, Hermann J. Girschick, Sevgi Keles, Amer Khojah, Shahrzad Bakhtiar, Victoria Katharina Tesch, Anna Shcherbina, Antonios G.A. Kolios, Marie Meeths, Mikko Seppänen, Austen Worth, Marina Garcia-Prat, Figen Dogu, Arjan C. Lankester, Markus G. Seidel
المساهمون: European Soc Blood, European Soc Immunodeficiencies, University of Zurich, Tesch, Victoria Katharina, Abolhassani, Hassan, Shadur, Bella, Zobel, Joachim, Mareika, Yuliya, Sharapova, Svetlana, Karakoc-Aydiner, Elif, Riviere, Jacques G., Garcia-Prat, Marina, Moes, Nicolette, Haerynck, Filomeen, Gonzales-Granado, Luis I., Santos Perez, Juan Luis, Mukhina, Anna, Shcherbina, Anna, Aghamohammadi, Asghar, Hammarstrom, Lennart, Dogu, Figen, Haskologlu, Sule, Ikinciogullari, Aydan I., Bal, Sevgi Kostel, Baris, Safa, Kilic, Sara Sebnem, Karaca, Neslihan Edeer, Kutukculer, Necil, Girschick, Hermann, Kolios, Antonios, Keles, Sevgi, Uygun, Vedat, Stepensky, Polina, Worth, Austen, van Montfrans, Joris M., Peters, Anke M. J., Meyts, Isabelle, Adeli, Mehdi, Marzollo, Antonio, Padem, Nurcicek, Khojah, Amer M., Chavoshzadeh, Zahra, Stefanija, Magdalena Avbelj, Bakhtiar, Shahrzad, Florkin, Benoit, Meeths, Marie, Gamez, Laura, Grimbacher, Bodo, Seppanen, Mikko R. J., Lankester, Arjan, Gennery, Andrew R., Seidel, Markus G., Ege Üniversitesi, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji., Kılıç, Sara Şebnem, AAH-1658-2021, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, TRIMM - Translational Immunology Research Program, Research Programs Unit, University of Helsinki, HUS Inflammation Center
المصدر: The journal of allergy and clinical immunology
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal of Allergy and Clinical Immunology, 145(5), 1452-1463. MOSBY-ELSEVIERمصطلحات موضوعية: Male, Neurologic disease, medicine.medical_treatment, Autoimmunity, Hematopoietic stem cell transplantation, Treatment response, Eye disease, 0302 clinical medicine, Thrombotic thrombocytopenic purpura, Azathioprine, combined immunodeficiency, Disease activity, Treatment outcome, Disease course, Child, Inborn error of immunity (IEI), Immunodeficiency, combined, Hematopoietic Stem Cell Transplantation, combined immunodeficiency (CID), hematopoietic stem cell transplantation (HSCT), Tocilizumab, Signal transducing, Multicenter study, Immunologic deficiency syndromes, 3. Good health, Clinical trial, Retrospective study, sirolimus, Child, Preschool, Cyclosporine, 2723 Immunology and Allergy, Graft failure, Lung infection, hematopoietic stem, Cohort analysis, Longitudinal study, Rituximab, Infection, Human, Hepatomegaly, medicine.medical_specialty, Genotype, Immunology, Cause of death, Major clinical study, Article, 03 medical and health sciences, Signal transducing adaptor protein, Humans, Lipopolysaccharide responsive beige like anchor protein deficiency, cell transplantation, Aged, 2403 Immunology, MUTATIONS, Abatacept, Immunologic Deficiency Syndromes, Adalimumab, Failure to thrive, Follow up, Survival analysis, Immune dysregulation, medicine.disease, Survival Analysis, 030104 developmental biology, Disease activity score, Splenomegaly, 10033 Clinic for Immunology, School child, Human medicine, immunodeficiency, 0301 basic medicine, Thyroiditis, Allergy, Unclassified drug, Immune deficiency, Lipopolysaccharide responsive beige like anchor protein, Respiratory failure, Skin manifestation, medicine.disease_cause, Lymphocyte proliferation, Medicine and Health Sciences, Immunology and Allergy, Overall survival, Middle aged, performance scale, Interstitial pneumonia, Priority journal, CTLA4, Mycophenolate mofetil, Chloroquine, clinical score, Immunosuppression, Disease burden, Transplant-Related Mortality, Middle Aged, Acute graft versus host disease, Hospitalization, Immune deficiency and dysregulation activity score, Treatment Outcome, Phenotype, surgical procedures, operative, primary immunodeficiency disorder (PID), hematopoietic stem cell transplantation, Female, medicine.drug, Adult, dysregulation, Malabsorption, abatacept, Adolescent, Child, preschool, Pemission, Interstitial lung disease, 610 Medicine & health, LRBA, Young Adult, immune dysregulation, Internal medicine, Adaptor proteins, medicine, primary immunodeficiency disorder, Mycophenolic acid, Rapamycin, Mortality, Disease severity, Adaptor Proteins, Signal Transducing, Inborn error of immunity, Chimera, business.industry, Protein, Retrospective cohort study, LRBA protein, Multiple organ failure, Infliximab, Immunosuppressive treatment, Young adult, Preschool child, 3121 General medicine, internal medicine and other clinical medicine, Common Variable Immunodeficiency, Immunoglobulin Deficiency, immune, business, 030215 immunology
وصف الملف: 1-s2.0-S009167491932603X-main.pdf - application/pdf; application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b609bdc323ed2eb41f327b418827ce5fTest
https://hdl.handle.net/10067/1695250151162165141Test -
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المؤلفون: Roland Meisel, Friedhelm R. Schuster, Loizos Loizou, Schafiq Nabhani, Andrea Hönscheid, Polina Stepensky, Michaela Kuhlen, Jörg Schaper, Meinolf Siepermann, Ute Fischer, Wolfram Klapper, Arndt Borkhardt
المصدر: Clinical Immunology. 162:27-30
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Adolescent, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, Biology, medicine.disease_cause, Autoimmunity, Hypogammaglobulinemia, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, Immune system, Lymphadenitis, Recurrence, Paranasal Sinuses, medicine, Humans, Immunology and Allergy, Respiratory Tract Infections, Exome sequencing, Immunodeficiency, Severe combined immunodeficiency, medicine.disease, Virology, Class Ia Phosphatidylinositol 3-Kinase, 030104 developmental biology, Cytomegalovirus Infections, Th17 Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd97ae3ca4d7204dcf387cbcb441383Test
https://doi.org/10.1016/j.clim.2015.10.008Test -
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المؤلفون: Despina Moshous, Manfred Hoenig, Alain Fischer, Mónica Martínez-Gallo, Sebastian Fuchs, Caterina Cancrini, Thomas Vraetz, Sujal Ghosh, Ansgar Schulz, Christine Winterhalter, Nikolaus Rieber, Andrew R. Gennery, Annette Uhlmann, Luis M. Allende, Andrew J. Cant, Kimberly Gilmour, Fabian Hauck, Alessia Scarselli, Brigitte Strahm, Tadej Avcin, Klaus Schwarz, Luigi D. Notarangelo, Tim Niehues, Carsten Speckmann, Alessandro Aiuti, Capucine Picard, H. Bobby Gaspar, Michael H. Albert, Klaus Warnatz, Pere Soler-Palacín, Polina Stepensky, Luis Ignacio Gonzalez-Granado, Stephan Ehl, Silvia Di Cesare, Sam Doerken, Andrea Finocchi, Bénédicte Neven, Sophie Hambleton, Waleed Al-Herz, Ruy Perez-Becker, Markus G. Seidel, Austen Worth
المساهمون: Speckmann, Carsten, Doerken, Sam, Aiuti, Alessandro, Albert, Michael H, Al-Herz, Waleed, Allende, Luis M, Scarselli, Alessia, Avcin, Tadej, Perez-Becker, Ruy, Cancrini, Caterina, Cant, Andrew, Di Cesare, Silvia, Finocchi, Andrea, Fischer, Alain, Gaspar, H Bobby, Ghosh, Sujal, Gennery, Andrew, Gilmour, Kimberly, González-Granado, Luis I, Martinez-Gallo, Monica, Hambleton, Sophie, Hauck, Fabian, Hoenig, Manfred, Moshous, Despina, Neven, Benedicte, Niehues, Tim, Notarangelo, Luigi, Picard, Capucine, Rieber, Nikolau, Schulz, Ansgar, Schwarz, Klau, Seidel, Markus G, Soler-Palacin, Pere, Stepensky, Polina, Strahm, Brigitte, Vraetz, Thoma, Warnatz, Klau, Winterhalter, Christine, Worth, Austen, Fuchs, Sebastian, Uhlmann, Annette, Ehl, Stephan
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Adolescent, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, Article, 03 medical and health sciences, Combined immunodeficiencies, T-cell deficiency, Immunology and Allergy, Medicine, combined immunodeficiency, Humans, Prospective Studies, Prospective cohort study, Child, Preschool, Immunodeficiency, Severe combined immunodeficiency, business.industry, hematopoietic stem cell transplantation, natural history, Child, Preschool, Female, Infant, Research Design, Severe Combined Immunodeficiency, Hematopoietic Stem Cell Transplantation, Retrospective cohort study, medicine.disease, T cell deficiency, Settore MED/38, Surgery, Transplantation, Prospective Studie, 030104 developmental biology, business, Human
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db8f0f84572820e12d3a2b4e64dfecdTest
http://hdl.handle.net/2108/234359Test