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caspase-8 deficiency

Pathology: - defective CD95-induced apoptosis of peripheral blood lymphocytes - defects in activation of T-lymphocytes, B-lymphocytes, & natural killer cells leading to immunodeficiency Genetics: - associated with defects in CASP8 Clinical manifestations: - resembles autoimmune lymphoproliferative syndrome - lymphadenopathy - splenomegaly - recurrent sinopulmonary infections - recurrent herpes simplex virus infections - poor responses to immunization

General

enzyme deficiency

Database Correlations

OMIM 607271

References

  1. OMIM :accession 607271
  2. UniProt :accession Q14790