“Caspase-8 Lymphadenopathy Syndrome“, Victor McKusick, Mendelian Inheritance in Man, 1966. 酪蛋白酶-8淋巴结病综合征。(CEDS).

Here I present: “Caspase-8 Lymphadenopathy Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. 酪蛋白酶-8淋巴结病综合征。(CEDS).

INTRODUCTION.

Caspase –8 Lymphadenopathy Syndrome  (CEDS) is a genetic disorder of the immune system. It is caused by mutations in the CASP8 gene that encodes the protein caspase-8. The disorder is characterized by splenomegaly and lymphadenopathy, in addition to recurrent sinopulmonary infections, recurrent mucocutaneous herpesvirus or other viral infections, and hypogammaglobulinemia.

Caspase-8 deficiency is the cause of the lymphadenopathy and splenomegaly, marginal elevation of ‘double-negative T cells’ (T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections.

There is evidence that the Caspase-8 deficiency gene CASP8 is on cytogenetic location 2q33.1 and genomic coordinates 2:201,233,463-201,287,711 . The screenshot of the CASP8 gene 54,249 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides CASP8 in the 2q33.1 cytogenetic location are listed BENEATH.