المؤلفون: Adeeb NaserEddin, Nathalie Asherie, Hagar Mor-Shaked, Polina Stepensky, Bella Shadur, Orly Elpeleg, Shlomit Kfir-Erenfeld, Yael Dinur Schejter, Taly Dubnikov

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Male, Primary Immunodeficiency Diseases, Lymphocyte, medicine.medical_treatment, Disease, Immunogenetics, Biology, Article, GTP Phosphohydrolases, Jurkat Cells, Immunological deficiency syndromes, Immune system, Western blot, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), medicine.diagnostic_test, Homozygote, Lymphocyte Subsets, medicine.anatomical_structure, Cytokine, Apoptosis, Mutation, Immunology, Cytokines, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::278e4aa81686bad7fa9cf31ef8c68a7dTest
https://doi.org/10.1038/s41431-020-00773-xTest

المؤلفون: Polina Stepensky, Diana Averbuch, Michal Vinker-Shuster, Violeta Temper, Vered Shayovitz, Reem Masarwa

المصدر: Journal of Pediatric Hematology/Oncology. 41:e493-e498

مصطلحات موضوعية: Male, medicine.medical_specialty, Neutropenia, Adolescent, medicine.medical_treatment, Bacteremia, Hematopoietic stem cell transplantation, Pneumocystis carinii, Trimethoprim, law.invention, law, Internal medicine, Drug Resistance, Bacterial, Sulfadoxine, medicine, Humans, Child, Retrospective Studies, Piperacillin, business.industry, Mortality rate, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Retrospective cohort study, Hematology, Odds ratio, Allografts, bacterial infections and mycoses, medicine.disease, Intensive care unit, Pneumocystis Infections, Transplantation, Drug Combinations, Oncology, Child, Preschool, Hematologic Neoplasms, Pediatrics, Perinatology and Child Health, Female, Gentamicins, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38c6498aebdbf0925be9a8bcdbb52cfTest
https://doi.org/10.1097/mph.0000000000001556Test

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 Immunology

مصطلحات 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

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

المؤلفون: Petr Sedlacek, Susanne Matthes, Polina Stepensky, Caroline A. Lindemans, Junfeng Wang, Jolanta Gozdzik, Manfred Hoenig, Krzysztof Kałwak, Juliana F Fernandes, Su Han Lum, Brigitte Strahm, Matthias Felber, Bénédicte Neven, Arjan C. Lankester, Amal Al Seraihy, Mervi Taskinen, Ansgar Schulz, Tayfun Güngör, Franco Locatelli, Andrew R. Gennery, Mathias Hauri-Hohl, Giovanna Lucchini, Michael H. Albert, Sheree Hazelaar, Despina Moshous, Robert Wynn, Fulvio Porta, Henric Jan Blok, Brenda Gibson, Marco Zecca, Paul Veys, Fabian Hauck, Per Ljungman, Urs Schanz, Dmitry Balashov, Serap Aksoylar, Robert Chiesa, Karl Walter Sykora, Musa Karakukcu, Mary Slatter

المساهمون: Ege Üniversitesi

المصدر: Blood, 136(10), 1201-1211. AMER SOC HEMATOLOGY

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Transplantation Conditioning, Adolescent, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, Disease, Granulomatous Disease, Chronic, Biochemistry, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Chronic granulomatous disease, Antigen, medicine, Humans, Transplantation, Homologous, Child, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Hematopoietic cell transplantation, Hematopoietic cell, business.industry, Incidence (epidemiology), Hematopoietic Stem Cell Transplantation, Infant, Cell Biology, Hematology, Middle Aged, Prognosis, medicine.disease, 3. Good health, Survival Rate, Transplantation, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Primary immunodeficiency, Female, business, Follow-Up Studies, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbc3dc7a0020fc1644f2e73747ec8ba2Test
http://hdl.handle.net/1887/3184828Test

المؤلفون: Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W.M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A. Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R.J. Seppänen, Siobhan O. Burns, Paul Tuijnenburg, Taco W. Kuijpers, Klaus Warnatz, Bodo Grimbacher, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Sofie Ashford, William J. Astle, Anthony Attwood, Chiara Bacchelli, Joana Batista, Helen E. Baxendale, Claire Bethune, Shahnaz Bibi, Marta Bleda, Barbara Boardman, Claire Booth, John R. Bradley, Gerome Breen, Matthew Brown, Michael J. Browning, Mary Brownlie, Matthew S. Buckland, Oliver S. Burren, Keren Carss, John Chambers, Anita Chandra, Naomi Clements Brod, Hayley Clifford, Nichola Cooper, Louise C. Daugherty, E.G. Davies, Sophie Davies, John Davis, Sarah Deacock, Sri V.V. Deevi, John Dempster, Lisa A. Devlin, Eleanor F. Dewhurst, Kate Downes, Elizabeth Drewe, Daniel Duarte, J. David M. Edgar, Karen Edwards, William Egner, Tariq El-Shanawany, Marie Erwood, Debra Fletcher, James Fox, Amy J. Frary, Mattia Frontini, Abigail Furnell, H. Bobby Gaspar, Rohit Ghurye, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Pavels Gordins, Stefan Gräf, Luigi Grassi, Daniel Greene, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Matthias Haimel, Lorraine Harper, Grant Hayman, Archana Herwadkar, Fengyuan Hu, Stephen Hughes, Aarnoud P. Huissoon, Roger James, Stephen Jolles, Jennifer Jolley, Julie Jones, Yousuf Karim, Mary A. Kasanicki, Peter Kelleher, Carly Kempster, Sorena Kiani, Nathalie Kingston, Nigel Klein, Myrto Kostadima, Roman Kreuzhuber, Dinakantha Kumararatne, James Laffan, Sara E. Lear, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Paul A. Lyons, Jesmeen Maimaris, Ania Manson, Rutendo Mapeta, Jennifer Martin, Mark I. McCarthy, Elizabeth M. McDermott, Harriet McKinney, Stuart Meacham, Karyn Megy, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H.K. Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Christopher J. Penkett, Romina Petersen, Mark J. Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, F. Lucy Raymond, Paula J. Rayner-Matthews, Alex Richter, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Sinisa Savic, Suranjith L. Seneviratne, W.A. Carrock Sewell, Denis Seyres, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Michael A. Simpson, Kenneth G.C. Smith, Simon Staines, Emily Staples, Hannah Stark, Hans Stauss, Cathal L. Steele, Jonathan Stephens, Kathleen E. Stirrups, David Thomas, Moira J. Thomas, Patrick Thomas, Adrian J. Thrasher, Tobias Tilly, Catherine Titterton, Paul Treadaway, Salih Tuna, Ernest Turro, Rafal Urniaz, Julie von Ziegenweidt, Neil Walker, Christopher Watt, Steven B. Welch, Deborah Whitehorn, Lisa Willcocks, Nicholas Wood, Yvette Wood, Sarita Workman, Austen Worth, Katherine Yates, Nigel Yeatman, Patrick F.K. Yong, Timothy Young, Ping Yu, Eliska Zlamalova

المساهمون: Tranzo, Scientific center for care and wellbeing, Huisarts & Ziekenhuis, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W. M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schroeder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martinez-Gallo, Monica, Ignacio Gonzalez-Granado, Luis, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, Joao Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Baris, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deya-Martinez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarstrom, Lennart, Kuismin, Outi, Helminen, Merja, Allen, Hana Lango, Thaventhiran, James E., Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjanen, Jaana, Seppanen, Mikko R. J., Burns, Siobhan O., Tuijnenburg, Paul, Kuijpers, Taco W., Warnatz, Klaus, Grimbacher, Bodo, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Molecular Systems Biology, Institute of Biotechnology, University of Helsinki, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, Pediatric surgery

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051Test
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051Test
J Allergy Clin Immunol
Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
Journal of Allergy and Clinical Immunology, 146, 901-911
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911

مصطلحات موضوعية: 0301 basic medicine, Male, NF-KAPPA-B, Medizin, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Fluorescent Antibody Technique, Autoimmunity, Disease, NUCLEAR-FACTOR, Kaplan-Meier Estimate, medicine.disease_cause, Hypogammaglobulinemia, 0302 clinical medicine, NFKB1 variants and mutations, autosomal dominant inheritance, common variable immunodeficiency, reduced penetrance, variable expressivity, HDE PED, Immunology and Allergy, variants and mutations, NF-κB1-related phenotype, Immunodeficiency, IMMUNODEFICIENCY, NF-?B1-related phenotype, 1184 Genetics, developmental biology, physiology, Disease Management, Middle Aged, NF-kappa B1-related phenotype, Prognosis, Penetrance, Immunohistochemistry, Magnetic Resonance Imaging, 3. Good health, Phenotype, NFKB1 variant, Female, Haploinsufficiency, NFKB1 mutation, Adult, Heterozygote, Immunology, HAPLOINSUFFICIENCY, Article, 03 medical and health sciences, autosomal dominant, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Aged, business.industry, Common variable immunodeficiency, NF-kappa B p50 Subunit, NF-KAPPA-B1, Immune dysregulation, medicine.disease, 030104 developmental biology, Biological Variation, Population, CELLS, Mutation, Primary immunodeficiency, 3111 Biomedicine, business, Tomography, X-Ray Computed, Biomarkers, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24edd7c93abde79c231a292f1382db64Test

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-ELSEVIER

مصطلحات 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

المؤلفون: Polina Stepensky, Irina Zaidman, Vered Molho-Pessach, Shahar Altman Kohl, Ehud Even-Or

المصدر: Pediatric Transplantation. 24

مصطلحات موضوعية: Male, medicine.medical_specialty, Transplantation Conditioning, medicine.medical_treatment, 030232 urology & nephrology, Hematopoietic stem cell transplantation, ThioTEPA, 030230 surgery, Treosulfan, 03 medical and health sciences, 0302 clinical medicine, medicine, Mucositis, Humans, Prospective Studies, Child, Busulfan, Transplantation, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Sequela, Prognosis, medicine.disease, Hyperpigmentation, Dermatology, Fludarabine, Child, Preschool, Pediatrics, Perinatology and Child Health, Toxicity, Drug Therapy, Combination, Female, Drug Eruptions, medicine.symptom, business, Immunosuppressive Agents, Thiotepa, Vidarabine, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b16866b59555f47208055be547a81cdTest
https://doi.org/10.1111/petr.13626Test

المؤلفون: Shoshana Greenberger, Ayal Hassidim, Yuval Dukler, Michal Neumark, Alexander Maly, Rony Shreberk-Hassidim, Polina Stepensky, Vered Molho-Pessach, Gal Goldstein

المصدر: Acta Dermato-Venereologica, Vol 98, Iss 2, Pp 206-211 (2017)

مصطلحات موضوعية: Male, Time Factors, Biopsy, lichenoid, Graft vs Host Disease, Tertiary Care Centers, 030207 dermatology & venereal diseases, 0302 clinical medicine, Risk Factors, immune system diseases, hemic and lymphatic diseases, Extracorporeal Photopheresis, lcsh:Dermatology, Israel, Child, Keratoderma, Skin, sclerotic, Age Factors, Hematopoietic Stem Cell Transplantation, General Medicine, Treatment Outcome, Child, Preschool, 030220 oncology & carcinogenesis, Lichenoid eruption, Female, graftversushostdisease, medicine.medical_specialty, Dermatology, Skin Diseases, 03 medical and health sciences, children, medicine, Humans, Transplantation, Homologous, chroniccutaneousgraftversushostdisease, Retrospective Studies, business.industry, Infant, Retrospective cohort study, lcsh:RL1-803, medicine.disease, Transplantation, Palmoplantar keratoderma, Graft-versus-host disease, allogeneichaematopoieticcelltransplantation, Chronic Disease, business, Complication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b4555b5c60d8b2b943808998831291Test
https://doi.org/10.2340/00015555-2824Test

المؤلفون: Rabi Hanna, Alexander A. Navarini, Janet Chou, Marc B. Bigler, Joeseph A. Church, Christoph Berger, Luigi D. Notarangelo, Polina Stepensky, Anne Valérie Burgener, Fariba Rezaee, Fabian Baldin, Mike Recher, Rebecca Higgins, Waleed Al-Herz, Florian Marquardsen, Gérard Lefranc, Shlomit Kfir-Erenfeld, Christoph Hess, Raif S. Geha, Benedikt J. Meyer, Florian Wunderer, Raymond Mikhael, Zeina Baz, Daniel Bloch, Annaïse Jauch

المصدر: Journal of Clinical Immunology. 37:707-714

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, T-Lymphocytes, Immunology, Hepatic Veno-Occlusive Disease, Disease, Biology, Article, Adenoviridae, Minor Histocompatibility Antigens, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Medical microbiology, Cell Line, Tumor, medicine, Humans, Immunology and Allergy, Child, Immunodeficiency, Sanger sequencing, Severe combined immunodeficiency, Newborn screening, T-cell receptor excision circles, Immunologic Deficiency Syndromes, Nuclear Proteins, Flow Cytometry, medicine.disease, 3. Good health, 030104 developmental biology, 13. Climate action, Child, Preschool, Leukocytes, Mononuclear, symbols, Primary immunodeficiency, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421275e0282f68db6c24cd1387886687Test
https://doi.org/10.1007/s10875-017-0431-5Test