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

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Here I present: Caspase-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.

Coordinate  Symbol  Genomic Name.
2:200908977  ORC2 Origin recognition complex, subunit 2
2:201,072,001  NDUFB3 NADH-ubiquinone oxidoreductase subunit B3
2:201,116,164  CFLAR CASP8- and FADD-like apoptosis regulator
2:201,183,141  CASP10 Caspase 10, apoptosis-related cysteine protease
2:201233463 CASP8 Caspase 8, apoptosis-related cysteine protease
2:201,288,271  FLACC1 Flagellum-associated protein  coil-coil domain 1
2:201,377,207  TRAK2 γ-aminobutyric acid receptor-interact factor 1
2:201,451,740  STRADB STE20-related kinase adaptor beta
2:201,487,421  C2CD6 C2 calcium-dependent domain-containing 6
2:201,620,186  TMM237 Transmembrane protein 237

 

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