Autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency.
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 cascade that originates when a peptide:MHC ligand binds to the TCR. CD3 is composed of invariant ...
Immunoglobulins are special concentrated antibody preparations which provide immediate short-term protection against disease for individuals who are at high risk of experiencing severe disease or of developing serious complications from the disease.
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 icosahedral symmetry.
Any of a group of naturally occurring proteins that mediate communication between cells. Interleukins regulate cell growth, differentiation, and mobility. They are particularly important in stimulating immune responses, such as inflammation.
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 circulating mature T-lymphocytes and NK cells, normal to elevated numbers of nonfunctional ...
X-linked diseases are single gene disorders that reflect the presence of defective genes on the X chromosome. This chromosome is present as two copies in females but only as one copy in males.
A lymphophenic form of congenital immunologic deficiency and thymic hypoplasia which was first described by Glanzmann and Riniker in 1950. Subsequent detailed clinical, pathologic, and immunologic studies of siblings of each of the original two cases demonstrated the familial nature of this ...
