Results 61 to 70 of about 45,012 (247)

Recent advances in understanding RAG deficiencies [version 1; referees: 2 approved]

F1000Research, 2019
Recombination-activating genes (RAG)1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination.
Andrew Gennery
doaj   +1 more source

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Frontiers in Immunology, 2020
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency ...
Maria Giżewska, Maria Giżewska, Katarzyna Durda, Theresa Winter, Theresa Winter, Iwona Ostrowska, Mariusz Ołtarzewski, Jeannette Klein, Oliver Blankenstein, Hanna Romanowska, Hanna Romanowska, Elżbieta Krzywińska-Zdeb, Elżbieta Krzywińska-Zdeb, Michał Filip Patalan, Michał Filip Patalan, Elżbieta Bartkowiak, Natalia Szczerba, Stefan Seiberling, Bożena Birkenfeld, Bożena Birkenfeld, Matthias Nauck, Matthias Nauck, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Christian Meisel, Christian Meisel, Ewa Anna Bernatowska, Mieczysław Walczak, Mieczysław Walczak, Małgorzata Pac   +30 more
doaj   +1 more source

Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan

Frontiers in Immunology, 2022
Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 in 50,000 births, mainly due to impaired lymphocyte differentiation.
Kay Tanita, Yoshiki Kawamura, Hiroki Miura, Noriko Mitsuiki, Takahiro Tomoda, Kento Inoue, Akihiro Iguchi, Akihiro Iguchi, Masafumi Yamada, Taro Yoshida, Hideki Muramatsu, Norimasa Tada, Toshihiro Matsui, Motohiro Kato, Katsuhide Eguchi, Masataka Ishimura, Shouichi Ohga, Kohsuke Imai, Tomohiro Morio, Tetsushi Yoshikawa, Hirokazu Kanegane   +20 more
doaj   +1 more source

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair [PDF]

, 2008
Several human disorders mutated in core components of the major DNA double-strand break (DSB) repair pathway, non-homologous end joining (NHEJ), have been described.
A Enders, A Gennery, A O'Marcaigh, B Gruhn, C Ahlers, C Couedel, D Buck, D Moshous, DB Yarosh, E Riballo, EP Rogakou, EP Rogakou, F Tremblay, HJ Deeg, HJ Deeg, HJ Kolb, IB Resnick, J Aschan, JF Buell, KW Caldecott, KW Caldecott, KW Caldecott, M Herman, M Herman, M Lobrich, M O'Driscoll, M O'Driscoll, M O'Driscoll, M Takata, M van der Burg, N Duncan, N Kobayashi, NJ Reynolds, O Fernandez-Capetillo, O Fernandez-Capetillo, P A Jeggo, P Ahnesorg, P Karran, P O'Donovan, RH Buckley, S Franco, S Franco, T Lindahl, T Ruutu, U Grawunder   +44 more
core   +1 more source

RELA Ablation Contributes to Progression of Hepatocellular Carcinoma with TP53R249S Mutation and is a Potential Therapeutic Target

Advanced Science, EarlyView.
Genome‐wide CRISPR/Cas9 based screening identified RELA as a key tumor suppressor in TP53R249S‐mutant HCC. Its loss promotes tumorigenesis and metastasis via DVL1‐mediated Wnt/β‐catenin activation, while its agonist betulinic acid suppresses tumor progression.
Zhiping Wu, Zhe Wang, Diwei Zheng, Yongfang Zheng, Zhiwu Jiang, Jiang Lv, Yueqin Zhu, Heng Jia, Ziyuan Duan, Tingjie Yuan, Qiting Wu, Youguo Long, Shouheng Lin, Yao Yao, Georgia Carson, Jean P. Thiery, Kwan Man, Peng Li   +17 more
wiley   +1 more source

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency [PDF]

, 2008
One of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency.
A Fischer, B Mazer, Barbara H. Barendregt, C Cunningham-Rundles, CM Roifman, E Arpaia, F Rieux-Laucat, FD Goldman, Hasibe Artac, Ilhan Tezcan, Ismail Reisli, Jacques J. M. van Dongen, K Katamura, K Masternak, LA Miosge, MC Zelm van, ME Elder, ME Elder, ME Elder, Mirjam van der Burg, N Noraz, O Calle-Martin de la, Ozden Sanal, RH Buckley, RH Buckley, RS Geha, S Matsuda, S Toyabe, Sandra de Bruin-Versteeg, Tuba Turul   +29 more
core   +5 more sources

The severe combined immunodeficiency (scid) mouse. A laboratory model for the analysis of Lyme arthritis and carditis

Journal of Experimental Medicine, 1989
We report that the spirochete B. burgdorferi induces progressive polyarthritis and carditis in mice with severe combined immunodeficiency syndrome (scid) but not in normal C.B-17 mice.
Ulrich E. Schaible, M. Kramer, Crisan Museteanu, G. Zimmer, Horst Mossmann, Markus M. Simon   +5 more
semanticscholar   +1 more source

Nanographene Oxide Attenuates Acute GVHD by Modulating Macrophage Polarization in a Xenogeneic Mouse Model

Advanced Science, EarlyView.
Nanographene oxide (NGO) attenuates graft‐versus‐host disease (GVHD) severity by inhibiting STAT1‐mediated M1 macrophage polarization and suppressing T‐cell activation. NGO‐primed macrophages (NGO‐Mac) further enhance regulatory T‐cell induction via IL‐10. Both NGO and NGO‐Mac therapies mitigate inflammation and immune pathology, offering cell‐free and
Aaron Yu, Hyun Sung Park, Dong‐Hoon Chae, Jae Han Park, Jiyoung Heo, Keonwoo Cho, Jiho Kim, Hyewon Lee, Sueyeon Jee, Chanwoo Kim, Soon Won Choi, Jaechul Ryu, Eun‐Hye Hur, Yunsuk Choi, Eun‐Ji Choi, Mi‐Kyung Oh, Hwa‐Yong Lee, Je‐Hwan Lee, Kyung‐Rok Yu   +18 more
wiley   +1 more source

Long-term neurocognitive function of pediatric patients with severe combined immune deficiency (SCID): pre- and post-hematopoietic stem cell transplant (HSCT). [PDF]

, 2009
BACKGROUND:Hematopoietic stem cell transplantation (HSCT) is the only cure for patients with severe combined immunodeficiency (SCID). The purpose of this study was to evaluate long-term neurodevelopment of patients with SCID following myeloablative ...
Azen, Colleen, Epport, Karen, Kohn, Donald B, Lin, Malinda, Parkman, Robertson, Shah, Ami J   +5 more
core  

Chronic ER Stress Triggers Cell‐Surface Chaperones as the Therapeutic Targets of CAR Cells in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Acute myeloid leukemia (AML) remains a therapeutic challenge due to its heterogeneity and limited targets. Here, multi‐omics analyses are utilized, and it is revealed that AML cells, particularly the FLT3‐ITD+ subtype, undergo chaperone‐mediated ER stress, inducing surface translocation of ER chaperones.
Yimin Zhou, Zhenfei Zhong, Peng Hu, Weigang Wang, Ying Song, Na Yang, Fangyan He, Yajie Li, Qi Sa, Yanmei Yang, Qinmiao Sun, Tonghua Yang, Beibei Zhang, Dahua Chen   +13 more
wiley   +1 more source