FADD deficiency

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FADD deficiency2016-11-25T20:01:37+00:00

FADD deficiency

IMMUNOLOGY

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).

Clinical findings Recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction variably accompanied by generalized seizures, which may be triggered by varicella zoster virus, parainfluenza virus, and EBV infections or MMR attenuated vaccine. 

Molecular pathology 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. 

Synonyms Fas-associated via death domain deficiency, infections—recurrent associated with encephalopathy—hepatic dysfunction and cardiovascular malformations 

References http://www.uniprot.org/uniprot/Q13158

http://www.omim.org/entry/613759

 

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