Created by: pmss1990
Number of Blossarys: 1
Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B ...
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 ...
Autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. ...
Autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency.
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.
A rare immunodeficiency disorder manifested by the partial or complete disappearance of major histocompatibility complex (MHC) proteins from the surface of the cells.
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 ...