The molecular basis of Common Variable Immunodeficiency (CVID) is unknown and the diagnosis requires the exclusion of other diseases known to cause primary antibody deficiency syndromes, such as X-linked lymphoproliferative disease (XLP). XLP is a rare primary immunodeficiency disease in which severe immune dysregulatory phenomena occur, typically after exposure to Epstein–Barr virus (EBV). The defective gene in XLP is SAP (SLAM associated protein, where SLAM is signalling lymphocyte activation molecule), a small SH2 domain containing protein involved in signal transduction events downstream of the SLAM family of receptors. (more…)
Common Variable Immunodeficiency (CVID) is the most frequent primary immunodeficiency in man that requires medical intervention. Mo ...
Primary immunodeficiencies occur with a frequency approaching that of cystic fibrosis (1:2500 live births). However, because they a ...
Acute phase proteins and the acute phase response in general arc stably conserved in evolution and are universal within each specie ...
Most acute phase proteins are synthesized in the liver, although the genes for some are also expressed in cells and tissues els ...
The Tcell Ig domain and mucin domain (TIM) proteins, the genes for which are located on chromosome 5q, have been suggested to b ...