Results 131 to 140 of about 45,777 (283)

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)

open access: yesInternational Journal of Neonatal Screening, 2017
This review should be seen as a practical tool, one which we hope illustrates potential routes to follow when seeking to implement or lobby for severe combined immunodeficiency newborn screening (SCID NBS) at a national or regional level.
H. Bobby Gaspar
doaj   +1 more source

Effect of stem cell source on long-term chimerism and event-free survival in children with primary immunodeficiency disorders after fludarabine and melphalan conditioning regimen [PDF]

open access: yes, 2016
BACKGROUND: Reduced-intensity conditioning (RIC) regimens are increasingly being used in the transplantation of patients with primary immunodeficiency disorders (PIDs), but there are no large studies looking at long-term lineage-specific chimerism ...
Adams, S   +9 more
core  

An Atypical Severe Combined Immunodeficiency (SCID) Case Diagnosis Complicated by Alternative Care in the Era of Newborn Screening (NBS) for SCID [PDF]

open access: bronze, 2017
Taylor Alberdi   +22 more
openalex   +1 more source

Bacterial and Pneumocystis Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency

open access: yesFrontiers in Immunology, 2018
Using the CRISPR/Cas9 gene-editing technology, we recently produced a number of rabbits with mutations in immune function genes, including FOXN1, PRKDC, RAG1, RAG2, and IL2RG. Seven founder knockout rabbits (F0) and three male IL2RG null (−/y) F1 animals
Jun Song   +18 more
doaj   +1 more source

Somatic Cell Therapy: A Genetic Rescue for a Tattered Immune System? [PDF]

open access: yes, 2012
Étude de cas / Case studyLe cas de M. Andrew Gobea, le premier enfant à recevoir une thérapie génique expérimentale pour le déficience immunitaire combinée sévère (DICS), et une réflexion sur les implications éthiques associées à la recherche en thérapie
Williams-Jones, Bryn
core   +1 more source

Severe Combined ImmunoDeficient (SCID) mice in biomedical research

open access: yesJournal of the Hellenic Veterinary Medical Society, 2017
Mice have been used in cancer research since the last decade of the 19th century. In 1921 inbred strains, that were predisposed to developing tumors, were bred and became available to cancer researchers. The nude mouse, a hairless mutantdiscovered in 1962, is immunodeficient, and thus does not reject tumor transplantations from other species.
openaire   +2 more sources

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency [version 2; referees: 2 approved, 1 not approved]

open access: yesF1000Research, 2017
Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses.
Geeta Madathil Govindaraj   +11 more
doaj   +1 more source

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