Results 1 to 10 of about 187,318 (206)

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]

Frontiers in Immunology
IntroductionSevere combined immunodeficiency (SCID) and other profound T- and B-cell lymphopenias are life-threatening conditions that benefit from early diagnosis and treatment.
Oksana Boyarchuk, Halyna Makukh, Alla Volokha, Alla Volokha, Anastasiia Bondarenko, Anastasiia Bondarenko, Nataliia Mytsyk, Oksana Barvinska, Ivanna Shymanska, Yuliia Pohuliai, Mykola Veropotvelyan, Anastasia Haviley, Marharyta Hurina, Yaryna Romanyshyn, Maryna Trophymova, Iryna Hrabovska, Oksana Malko, Tetiana Tsanko, Oksana Tykholaz, Oleksandr Lysytsia, Nataliia Samonenko, Nataliia Olkhovych   +21 more
doaj   +2 more sources

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

Medicina
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.
Evangelos Bakaros, Styliani Sarrou, Antonios Gkantaras, Alexia Matziri, Achilleas P. Galanopoulos, Konstantina Charisi, Athanasios Bangeas, Anna Taparkou, Eleni Papadimitriou, Varvara A. Mouchtouri, Fani Kalala, Christos Hadjichristodoulou, Matthaios Speletas, Evangelia Farmaki   +13 more
doaj   +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

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

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

Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]

, 2017
BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M, Finno, CJ, Penedo, MCT, Weich, K   +3 more
core   +1 more source

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. [PDF]

, 2015
Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary ...
Candotti, Fabio, Hershfield, Michael S, Kohn, Donald B, Komarow, Hirsh D, Metcalfe, Dean D, Sokolic, Robert, Young, Michael   +6 more
core   +2 more sources

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