Results 1 to 10 of about 192,238 (309)

Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers

Frontiers in Pediatrics, 2022
BackgroundSevere combined immunodeficiency (SCID) is a group of life-threatening genetic disorders responsible for severe dysfunctions of the immune system.
Oksana Kutsa, Angela Gwaltney, Alissa Creamer, Melissa Raspa   +3 more
doaj   +1 more source

Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

International Journal of Neonatal Screening, 2019
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA).
Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu   +12 more
doaj   +1 more source

CLINICAL AND EPIDEMIOLOGICAL ASPECTS OF PRIMARY IMMUNODEFICIENCY DISEASES (PID) AND EARLY DIAGNOSIS OPTIONS

Медицинская иммунология, 2017
Neonatal screening for primary immunodeficiencies (PID) provides a unique opportunity for early detection of moderate to severe immune disorders. Thus, the patients could be provided with best available therapy, due to effective treatment according to ...
I. A. Korsunskiy, M. A. Gordukova, D. B. Munblit, I. G. Kozlov, A. P. Prodeus, A. A. Korsunskiy   +5 more
doaj   +1 more source

Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report [PDF]

Iranian Journal of Immunology, 2019
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations.
Ali Pourvali, Saba Arshi, Mohammad Nabavi, Mohammad Hasan Bemanian, Sima Shokri, Mohammad Shahrooei, Nima Rezaei, Morteza Fallahpour   +7 more
doaj   +1 more source

Modernization of a Large Spinal Cord Injuries and Disorders Registry: The Veterans Administration Experience

Archives of Rehabilitation Research and Clinical Translation, 2022
Since the 1990s, Veterans Health Administration (VHA) has maintained a registry of Veterans with Spinal Cord Injuries and Disorders (SCI/Ds) to guide clinical care, policy, and research. Historically, methods for collecting and recording data for the VHA
Jennifer L. Sippel, PhD, Jennifer E. Daly, PhD, Linda Poggensee, MS, Kim D. Ristau, BS, Adam C. Eberhart, DPT, Katharine Tam, MD, Charlesnika T. Evans, PhD, Betsy Lancaster, BS, I. Manosha Wickremasinghe, MD, Stephen P. Burns, MD, Barry Goldstein, MD, PhD, Bridget M. Smith, PhD   +11 more
doaj   +1 more source

Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face?

Vaccines, 2019
We report the first case, to our knowledge, in Italy, of a severe combined immunodeficiency patient with a persistent rotavirus infection due to a vaccine derived strain.
Maria Antonia De Francesco, Giovanni Ianiro, Marina Monini, Cesare Vezzoli, Richard Fabian Schumacher, Silvia Giliani, Giovanni Lorenzin, Francesca Gurrieri, Arnaldo Caruso   +8 more
doaj   +1 more source

Elucidation of the Effects of a Current X-SCID Therapy on Intestinal Lymphoid Organogenesis Using an In Vivo Animal ModelSummary

Cellular and Molecular Gastroenterology and Hepatology, 2020
Background & Aims: Organ-level research using an animal model lacking Il2rg, the gene responsible for X-linked severe combined immunodeficiency (X-SCID), is clinically unavailable and would be a powerful tool to gain deeper insights into the symptoms
Tomonori Nochi, Shunichi Suzuki, Shun Ito, Shotaro Morita, Mutsumi Furukawa, Daiichiro Fuchimoto, Yoji Sasahara, Katsuki Usami, Kanae Niimi, Osamu Itano, Minoru Kitago, Sachiko Matsuda, Ayumi Matsuo, Yoshihisa Suyama, Yoshifumi Sakai, Guoyao Wu, Fuller W. Bazer, Kouichi Watanabe, Akira Onishi, Hisashi Aso   +19 more
doaj   +1 more source

Generation of Novel Chimeric Mice with Humanized Livers by Using Hemizygous cDNA-uPA/SCID Mice. [PDF]

PLoS ONE, 2015
We have used homozygous albumin enhancer/promoter-driven urokinase-type plasminogen activator/severe combined immunodeficient (uPA/SCID) mice as hosts for chimeric mice with humanized livers.
Chise Tateno, Yosuke Kawase, Yoshimi Tobita, Satoko Hamamura, Hiroki Ohshita, Hiroshi Yokomichi, Harumi Sanada, Masakazu Kakuni, Akira Shiota, Yuha Kojima, Yuji Ishida, Hiroshi Shitara, Naoko A Wada, Hiromi Tateishi, Masayuki Sudoh, Shin-Ichiro Nagatsuka, Kou-Ichi Jishage, Michinori Kohara   +17 more
doaj   +1 more source

Induced Pluripotent Stem Cell Meets Severe Combined Immunodeficiency [PDF]

Cell Journal, 2020
Severe combined immunodeficiency (SCID) is classified as a primary immunodeficiency, which is characterized by impaired T-lymphocytes differentiation. IL2RG, IL7Ralpha, JAK3, ADA, RAG1/RAG2, and DCLE1C (Artemis) are the most defective genes in SCID.
Reza Kouchaki, Bahareh Abd-Nikfarjam, Amirhosein Maali, Saeid Abroun, Farshad Foroughi, Sasan Ghaffari, Mehdi Azad   +6 more
doaj   +1 more source

Increased γ-H2A.X intensity in response to chronic medium-dose-rate γ-ray irradiation. [PDF]

PLoS ONE, 2012
BACKGROUND: The molecular mechanisms of DNA repair following chronic medium-dose-rate (MDR) γ-ray-induced damage remain largely unknown. METHODOLOGY/PRINCIPAL FINDINGS: We used a cell function imager to quantitatively measure the fluorescence intensity ...
Takashi Sugihara, Hayato Murano, Kimio Tanaka   +2 more
doaj   +1 more source