Hasil Pencarian - Jolan E. Walter
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Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation oleh Katarina Zmajkovicova, Keith Nykamp, Grace Blair, Grace Blair, Melis Yilmaz, Melis Yilmaz, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2024-07-01
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Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency oleh Karyn Parsons, Sarah D. Cipriano, Lindsey B. Rosen, Sarah K. Browne, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter, Bryan L. Stone, Susana Keeshin, Karin Chen
Diterbitkan 2019-03-01
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Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets oleh Jocelyn R. Farmer, Mei-Sing Ong, Sara Barmettler, Lael M. Yonker, Ramsay Fuleihan, Kathleen E. Sullivan, Charlotte Cunningham-Rundles, The USIDNET Consortium, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2018-01-01
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Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency oleh Mayra B. Dorna, Pamela F. A. Barbosa, Andréia Rangel-Santos, Krisztian Csomos, Boglarka Ujhazi, Joseph F. Dasso, Joseph F. Dasso, Daniel Thwaites, Joan Boyes, Sinisa Savic, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2019-04-01
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Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1 oleh Panida Sriaroon, Yenhui Chang, Boglarka Ujhazi, Krisztian Csomos, Hemant R. Joshi, Qin Zhou, Devin W. Close, Jolan E. Walter, Jolan E. Walter, Attila Kumánovics, Attila Kumánovics, Attila Kumánovics
Diterbitkan 2019-04-01
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Powering the Immune System: Mitochondria in Immune Function and Deficiency oleh Melissa A. Walker, Stefano Volpi, Katherine B. Sims, Jolan E. Walter, Elisabetta Traggiai
Diterbitkan 2014-01-01
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B cell abnormalities and autoantibody production in patients with partial RAG deficiency oleh Qing Min, Krisztian Csomos, Yaxuan Li, Lulu Dong, Ziying Hu, Xin Meng, Meiping Yu, Jolan E. Walter, Jolan E. Walter, Ji-Yang Wang, Ji-Yang Wang, Ji-Yang Wang, Ji-Yang Wang
Diterbitkan 2023-07-01
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Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency oleh Kevin Y. Wu, Pooja Purswani, Boglarka Ujhazi, Krisztian Csomos, Mihailova Snezhina, Naumova Elissaveta, Stefan Stefanov, Svetlana Sharapova, Maryssa Ellison, Diana Milojevic, Sinisa Savic, Ravishankar Sargur, Ravishankar Sargur, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2019-07-01
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Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort oleh Emma Westermann-Clark, Emma Westermann-Clark, Cristina Adelia Meehan, Anna K. Meyer, Anna K. Meyer, Joseph F. Dasso, Joseph F. Dasso, Devendra Amre, Maryssa Ellison, Bhumika Patel, Marisol Betensky, Marisol Betensky, Charles Isaac Hauk, Jennifer Mayer, Jonathan Metts, Jennifer W. Leiding, Jennifer W. Leiding, Panida Sriaroon, Panida Sriaroon, Ambuj Kumar, Irmel Ayala, Irmel Ayala, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2021-04-01
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Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma oleh Maria Chitty-Lopez, Emma Westermann-Clark, Irina Dawson, Boglarka Ujhazi, Krisztian Csomos, Kerry Dobbs, Khuong Le, Yasuhiro Yamazaki, Amir A. Sadighi Akha, Deepak Chellapandian, Ben Oshrine, Luigi D. Notarangelo, Gauri Sunkersett, Jennifer W. Leiding, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2020-09-01
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Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review oleh Tatiana P. Volodashchik, Ekaterina A. Polyakova, Taisia M. Mikhaleuskaya, Inga S. Sakovich, Aleksandra N. Kupchinskaya, Aliaxandr Ch. Dubrouski, Mikhail V. Belevtsev, Joseph F. Dasso, Joseph F. Dasso, Dzmitry S. Varabyou, Luigi D. Notarangelo, Jolan E. Walter, Jolan E. Walter, Svetlana O. Sharapova
Diterbitkan 2024-07-01
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Antigen-Specific CD4+ T-Cell Activation in Primary Antibody Deficiency After BNT162b2 mRNA COVID-19 Vaccination oleh Kai M. T. Sauerwein, Kai M. T. Sauerwein, Kai M. T. Sauerwein, Christoph B. Geier, Roman F. Stemberger, Hüseyin Akyaman, Peter Illes, Michael B. Fischer, Michael B. Fischer, Martha M. Eibl, Martha M. Eibl, Jolan E. Walter, Jolan E. Walter, Hermann M. Wolf, Hermann M. Wolf
Diterbitkan 2022-02-01
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Bilateral Lung Transplantation in a Patient with Humoral Immune Deficiency: A Case Report with Review of the Literature oleh Jocelyn R. Farmer, Caroline L. Sokol, Francisco A. Bonilla, Mandakolathur R. Murali, Richard L. Kradin, Todd L. Astor, Jolan E. Walter
Diterbitkan 2014-01-01
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Impaired B-cell function in ERCC2 deficiency oleh Raphael Rossmanith, Raphael Rossmanith, Raphael Rossmanith, Kai Sauerwein, Kai Sauerwein, Christoph B. Geier, Christoph B. Geier, Christoph B. Geier, Alexander Leiss-Piller, Roman F. Stemberger, Svetlana Sharapova, Robert W. Gruber, Helmut Bergler, James W. Verbsky, Krisztian Csomos, Krisztian Csomos, Jolan E. Walter, Jolan E. Walter, Hermann M. Wolf, Hermann M. Wolf
Diterbitkan 2024-07-01
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Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening oleh Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F. Dasso, Joseph F. Dasso, Anna K. Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Attila Kumanovics, Anne M. Comeau, Jaime E. Hale, Luigi D. Notarangelo, Troy R. Torgersen, Hans D. Ochs, Panida Sriaroon, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D. Rosenzweig, Jennifer W. Leiding, Jennifer W. Leiding, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Diterbitkan 2019-04-01
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Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene oleh Wenjie Wang, Qing Min, Nannan Lai, Krisztian Csomos, Ying Wang, Luyao Liu, Xin Meng, Jinqiao Sun, Jia Hou, Wenjing Ying, Qinhua Zhou, Bijun Sun, Xiaoying Hui, Boglarka Ujhazi, Sumai Gordon, David Buchbinder, Catharina Schuetz, Manish Butte, Jolan E. Walter, Jolan E. Walter, Xiaochuan Wang, Xiaochuan Wang, Ji-Yang Wang, Ji-Yang Wang, Ji-Yang Wang, Ji-Yang Wang
Diterbitkan 2022-06-01
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