Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment
Microorganisms, 2023 Severe combined immunodeficiency (SCID) is a primary inherited immunodeficiency disease that presents before the age of three months and can be fatal.
Angel A. Justiz-Vaillant +4 more
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Pharmaceutics, 2021 For the recovery or replacement of dysfunctional cells and tissue—the goal of stem cell research—successful engraftment of transplanted cells and tissues are essential events.
Yoon-Young Kim +5 more
doaj +1 more source
A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency [PDF]
Journal of Experimental Medicine, 1998 The products of recombination activating gene (RAG)1 and RAG2 initiate the lymphoid-specific phase of the V(D)J recombination by creating a DNA double-strand break (dsb), leaving hairpin-sealed coding ends.
Nathalie Nicolas +7 more
openalex +2 more sources
Genetics of severe combined immunodeficiency
Genes and Diseases, 2020 Severe Combined Immunodeficiency (SCID) is an inherited group of rare, life-threatening disorders due to the defect in T cell development and function.
Rajni Kumrah +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 +7 more
doaj +1 more source
Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency
Journal 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]
, 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
HUMAN SEVERE COMBINED IMMUNODEFICIENCY (SCID): GENETIC, PHENOTYPIC AND FUNCTIONAL DIVERSITY IN 95 INFANTS. • 41 [PDF]
Pediatric Research, 1996 Rebecca H. Buckley +7 more
openalex +2 more sources
Frontiers 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
Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders
Open 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