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Caspase-8 deficiency state
Caspase-8 deficiency state (CEDS) is a very rare 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. Investigators in the laboratory of Dr. Michael Lenardo at the National Institutes of Health described this condition in two siblings from a consanguineous family in 2002, and several more affected family members have since been identified.
==Genetics==
CEDS is caused by homozygous mutations in caspase-8. Caspase-8 is a 51 kb gene with 13 exons encoding for a 496 amino acid protein that maps to 2q33.1.〔(【引用サイトリンク】url=http://www.omim.org/entry/607271 )〕 Caspase-8 is involved in the initiation of the cell death signal cascade. Cell death counters proliferation of lymphocytes, allowing the immune system to achieve dynamic homeostasis whereby it can defend against pathogens and avoid autoimmunity. The two reported siblings have C>T transitions, causing R248W loss-of-function mutations in the gene. The mutations lead to functional caspase-8 deficiency by destabilizing the caspase-8 protein and inactivating its enzymatic capacity.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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