Created by: pmss1990
Number of Blossarys: 1
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Defects in the JAK3 gene (Janus kinase 3) are a cause of autosomal recessive T-cell negative/B-cell positive severe combined immunodeficiency (T-B+ SCID), a condition characterized by the absence of ...
Lack of lymphocytes. When not more precisely defined, the term refers to pediatric patients. In MeSH, the term is assumed to refer to an infant or child. In children, it is usually defined in terms ...
One of the major virus families, to which the herpes simplex, varicella zoster, and Epstein-Barr viruses belong. Viruses in this family have a double-stranded linear molecular structure with ...
Autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. ...
The CD3 complex is a group of cell surface molecules that associates with the T-cell antigen receptor (TCR) and functions in the cell surface expression of TCR and in the signaling transduction ...
A rare immunodeficiency disorder manifested by the partial or complete disappearance of major histocompatibility complex (MHC) proteins from the surface of the cells.
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage ...