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Genetics of SCID [PDF]

Italian Journal of Pediatrics, 2010
Human SCID (Severe Combined Immunodeficiency) is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes.
Cossu Fausto
doaj   +3 more sources

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025. [PDF]

Front Immunol
IntroductionSevere combined immunodeficiency (SCID) and other profound T- and B-cell lymphopenias are life-threatening conditions that benefit from early diagnosis and treatment.
Boyarchuk O, Makukh H, Volokha A, Bondarenko A, Mytsyk N, Barvinska O, Shymanska I, Pohuliai Y, Veropotvelyan M, Haviley A, Hurina M, Romanyshyn Y, Trophymova M, Hrabovska I, Malko O, Tsanko T, Tykholaz O, Lysytsia O, Samonenko N, Olkhovych N.   +19 more
europepmc   +2 more sources

Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency. [PDF]

Medicina (Kaunas)
Background and Objectives: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes.
Bakaros E, Sarrou S, Gkantaras A, Matziri A, Galanopoulos AP, Charisi K, Bangeas A, Taparkou A, Papadimitriou E, Mouchtouri VA, Kalala F, Hadjichristodoulou C, Speletas M, Farmaki E.   +13 more
europepmc   +2 more sources

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

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

Eliminating SCID row: new approaches to SCID [PDF]

Hematology, 2014
AbstractTreatments for patients with SCID by hematopoietic stem cell transplantation (HSCT) have changed this otherwise lethal primary immune deficiency disorder into one with an increasingly good prognosis. SCID has been the paradigm disorder supporting many key advances in the field of HSCT, with first-in-human successes with matched sibling ...
openaire   +2 more sources

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

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

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