Caspase-8 deficiency (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.
[1] 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,
[2] and several more affected family members have since been identified.
[3]