Created by: pmss1990
Number of Blossarys: 1
English (EN) 
The zeta chain-associated protein kinase of 70 kD, ZAP-70, is involved in T cell receptor signaling and is critical for T cell differentiation and function. Deficiency of ZAP-70 causes a combined ...
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.
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome.
Autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency.
Autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. ...
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 ...
