FADD deficiency(redirected from IEHDCM)
FADD deficiencyFas-associated via death domain deficiency. An autosomal recessive condition (OMIM:613759) with features of autoimmune lymphoproliferative syndrome (high-circulating CD4-CD8-TCR-alpha-beta+ T-cell counts; elevated IL10 and FASL levels).
Recurrent, stereotypical episodes of fever, encephalopathy and mild liver dysfunction, variably accompanied by generalised seizures, which may be triggered by varicella zoster virus, parainfluenza virus and EBV infections or MMR attenuated vaccine.
Defects of FADD, which encodes an adaptor protein of the death-inducing signalling complex that may play a role in early T-cell development, cause FADD deficiency.