Caspase-8 deficiency

Symptoms of Caspase-8 deficiency

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Caspase-8 deficiency

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)1 ...

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Names and Terminology

Other Names: Autoimmune lymphoproliferative syndrome type 2B; ALPS2B; Caspase 8 deficiency ...Source: GARD (NIH)2 ...

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References

  1. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1846545/ 
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9796/ caspase-8-deficiency

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.