Results 31 to 40 of about 45,777 (283)

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

open access: yesIranian 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   +7 more
doaj   +1 more source

Adriamycin nephropathy in severe combined immunodeficient (SCID) mice [PDF]

open access: yesNephrology Dialysis Transplantation, 2006
Experimental focal glomerulosclerosis is a model of chronic proteinuric renal disease that has been induced in both rats and mice. In mice, the adriamycin (ADR)induced nephropathy model is a robust experimental analogue of human focal glomerulosclerosis [1].
Vincent W S, Lee   +9 more
openaire   +2 more sources

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

open access: yesJournal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka   +3 more
doaj   +1 more source

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

open access: yes, 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   +6 more
core   +2 more sources

Severe combined immunodeficiencies (SCID) [PDF]

open access: yesClinical and Experimental Immunology, 2000
SCID consists of a group of genetic disorders characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages, i.e. B or NK lymphocytes or more rarely of the myeloid lineage [1,2].
openaire   +2 more sources

Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by DCLRE1C gene mutations

open access: yesFrontiers in Genetics, 2023
Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by DCLRE1C gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs ...
Sihan Deng   +4 more
doaj   +1 more source

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

open access: yes, 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   +3 more
core   +1 more source

Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells in ART−/−IL2RG−/Y SCID Pigs

open access: yesFrontiers in Immunology, 2020
Pigs with severe combined immunodeficiency (SCID) are an emerging biomedical animal model. Swine are anatomically and physiologically more similar to humans than mice, making them an invaluable tool for preclinical regenerative medicine and cancer ...
Adeline N. Boettcher   +26 more
doaj   +1 more source

Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders

open access: yesOpen Life Sciences, 2021
A new approach is adopted to treat primary immunodeficiency disorders, such as the severe combined immunodeficiency (SCID; e.g., adenosine deaminase SCID [ADA-SCID] and IL-2 receptor X-linked severe combined immunodeficiency [SCID-X1]).
Odiba Arome Solomon   +3 more
doaj   +1 more source

Regulated progression of B lymphocyte differentiation from cultured fetal liver. [PDF]

open access: yes, 1987
Lymphoid fetal liver cultures (LFLC) are long-term, nontransformed cultures of early B lymphoid lineage cells which appear developmentally blocked at the pre-B stage in vitro.
Denis, KA, Dorshkind, K, Witte, ON
core   +2 more sources

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