X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature

by Mosopefoluwa Lanlokun, Amanda Borden, Daime Nieves, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter, Deborah Albright
Published 2021-06-01

Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency

by 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
Published 2019-03-01

Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets

by 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
Published 2018-01-01

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

by 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
Published 2019-04-01

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

by 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
Published 2019-04-01

Powering the Immune System: Mitochondria in Immune Function and Deficiency

by Melissa A. Walker, Stefano Volpi, Katherine B. Sims, Jolan E. Walter, Elisabetta Traggiai
Published 2014-01-01

Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency

by 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
Published 2019-07-01

Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort

by 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
Published 2021-04-01

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

by 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
Published 2020-09-01

Bilateral Lung Transplantation in a Patient with Humoral Immune Deficiency: A Case Report with Review of the Literature

by Jocelyn R. Farmer, Caroline L. Sokol, Francisco A. Bonilla, Mandakolathur R. Murali, Richard L. Kradin, Todd L. Astor, Jolan E. Walter
Published 2014-01-01

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

by 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
Published 2019-04-01

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

by Christoph B. Geier, Jocelyn R. Farmer, Zsofia Foldvari, Boglarka Ujhazi, Jolanda Steininger, John W. Sleasman, Suhag Parikh, Meredith A. Dilley, Sung-Yun Pai, Sung-Yun Pai, Sung-Yun Pai, Lauren Henderson, Melissa Hazen, Benedicte Neven, Benedicte Neven, Benedicte Neven, Despina Moshous, Despina Moshous, Despina Moshous, Svetlana O. Sharapova, Snezhina Mihailova, Petya Yankova, Elisaveta Naumova, Seza Özen, Kevin Byram, James Fernandez, Hermann M. Wolf, Hermann M. Wolf, Martha M. Eibl, Martha M. Eibl, Luigi D. Notarangelo, Leonard H. Calabrese, Jolan E. Walter, Jolan E. Walter
Published 2020-10-01

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

by Alice Y. Chan, Jennifer W. Leiding, Xuerong Liu, Brent R. Logan, Lauri M. Burroughs, Eric J. Allenspach, Suzanne Skoda-Smith, Gulbu Uzel, Luigi D. Notarangelo, Mary Slatter, Andrew R. Gennery, Angela R. Smith, Sung-Yun Pai, Sung-Yun Pai, Sung-Yun Pai, Michael B. Jordan, Rebecca A. Marsh, Morton J. Cowan, Christopher C. Dvorak, John A. Craddock, Susan E. Prockop, Shanmuganathan Chandrakasan, Neena Kapoor, Rebecca H. Buckley, Suhag Parikh, Deepak Chellapandian, Benjamin R. Oshrine, Jeffrey J. Bednarski, Megan A. Cooper, Shalini Shenoy, Blachy J. Davila Saldana, Lisa R. Forbes, Caridad Martinez, Elie Haddad, David C. Shyr, Karin Chen, Kathleen E. Sullivan, Jennifer Heimall, Nicola Wright, Monica Bhatia, Geoffrey D. E. Cuvelier, Frederick D. Goldman, Isabelle Meyts, Isabelle Meyts, Holly K. Miller, Markus G. Seidel, Mark T. Vander Lugt, Rosa Bacchetta, Katja G. Weinacht, Jeffrey R. Andolina, Emi Caywood, Hey Chong, Maria Teresa de la Morena, Victor M. Aquino, Evan Shereck, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter, Morna J. Dorsey, Christine M. Seroogy, Linda M. Griffith, Donald B. Kohn, Jennifer M. Puck, Michael A. Pulsipher, Troy R. Torgerson
Published 2020-02-01

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

by Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Freiberger, Tomáš Milota, Tomáš Milota, Renata Formánková, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Maciej Siedlar, Tadej Avčin, Tadej Avčin, Gašper Markelj, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Hana Grombirikova, Maruša Debeljak, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Anna Šedivá, Mirjam van der Burg, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Published 2020-06-01

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

by Svetlana O. Sharapova, Olga E. Pashchenko, Anastasiia V. Bondarenko, Svetlana S. Vakhlyarskaya, Tatjana Prokofjeva, Alina S. Fedorova, Ihor Savchak, Yuliya Mareika, Timur T. Valiev, Alexander Popa, Irina A. Tuzankina, Elena V. Vlasova, Inga S. Sakovich, Ekaterina A. Polyakova, Natalia V. Rumiantseva, Irina V. Naumchik, Svetlana A. Kulyova, Svetlana N. Aleshkevich, Elena I. Golovataya, Nina V. Minakovskaya, Mikhail V. Belevtsev, Elena A. Latysheva, Tatiana V. Latysheva, Alexander G. Beznoshchenko, Hayane Akopyan, Halyna Makukh, Olena Kozlova, Dzmitry S. Varabyou, Mark Ballow, Mei-Sing Ong, Jolan E. Walter, Irina V. Kondratenko, Larysa V. Kostyuchenko, Olga V. Aleinikova
Published 2021-01-01

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Di...

by Kerry Dobbs, Giovanna Tabellini, Enrica Calzoni, Ornella Patrizi, Paula Martinez, Silvia Clara Giliani, Daniele Moratto, Waleed Al-Herz, Caterina Cancrini, Caterina Cancrini, Morton Cowan, Jacob Bleesing, Claire Booth, David Buchbinder, Siobhan O. Burns, Siobhan O. Burns, Talal A. Chatila, Janet Chou, Vanessa Daza-Cajigal, Lisa M. Ott de Bruin, Maite Teresa de la Morena, Gigliola Di Matteo, Gigliola Di Matteo, Andrea Finocchi, Andrea Finocchi, Raif Geha, Rakesh K. Goyal, Anthony Hayward, Steven Holland, Chiung-Hui Huang, Maria G. Kanariou, Alejandra King, Blanka Kaplan, Anastasiya Kleva, Taco W. Kuijpers, Bee Wah Lee, Vassilios Lougaris, Michel Massaad, Isabelle Meyts, Megan Morsheimer, Benedicte Neven, Sung-Yun Pai, Nima Parvaneh, Nima Parvaneh, Alessandro Plebani, Susan Prockop, Ismail Reisli, Jian Yi Soh, Raz Somech, Troy R. Torgerson, Yae-Jaen Kim, Jolan E. Walter, Andrew R. Gennery, Andrew R. Gennery, Sevgi Keles, John P. Manis, Emanuela Marcenaro, Alessandro Moretta, Silvia Parolini, Luigi D. Notarangelo
Published 2017-07-01

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cell...

by Kerry Dobbs, Giovanna Tabellini, Enrica Calzoni, Ornella Patrizi, Paula Martinez, Silvia Clara Giliani, Daniele Moratto, Waleed Al-Herz, Caterina Cancrini, Caterina Cancrini, Morton Cowan, Jacob Bleesing, Claire Booth, David Buchbinder, Siobhan O. Burns, Siobhan O. Burns, Talal A. Chatila, Janet Chou, Vanessa Daza-Cajigal, Lisa M. Ott de Bruin, Maite Teresa de la Morena, Gigliola Di Matteo, Gigliola Di Matteo, Andrea Finocchi, Andrea Finocchi, Raif Geha, Rakesh K. Goyal, Anthony Hayward, Steven Holland, Chiung-Hui Huang, Maria G. Kanariou, Alejandra King, Blanka Kaplan, Anastasiya Kleva, Taco W. Kuijpers, Bee Wah Lee, Vassilios Lougaris, Michel Massaad, Isabelle Meyts, Megan Morsheimer, Benedicte Neven, Sung-Yun Pai, Nima Parvaneh, Nima Parvaneh, Alessandro Plebani, Susan Prockop, Ismail Reisli, Jian Yi Soh, Raz Somech, Troy R. Torgerson, Yae-Jean Kim, Jolan E. Walter, Andrew R. Gennery, Andrew R. Gennery, Sevgi Keles, John P. Manis, Emanuela Marcenaro, Alessandro Moretta, Silvia Parolini, Luigi D. Notarangelo
Published 2017-10-01