<unk>  (CEDS) is a very rare genetic disorder of the immune system. It is caused by mutations in the CASP8 gene that encodes the protein<unk> -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.
Caspase-8 deficiency
Janus kinase 3 deficiency
ZAP70 deficiency
NGLY1 deficiency
LRBA deficiency
Leukocyte adhesion molecule deficiency
CDKL5 deficiency disorder
PMM2 deficiency