Caspase 8 deficiency

Preferred Label : Caspase 8 deficiency;

CISMeF acronym : CEDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CEDS; Autoimmune lymphoproliferative syndrome, type iib; ALPS2B;

Description : Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta , CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caspase 8 gene (CASP8, 601763.0001);

Prefixed ID : #607271;

Détails

Origin ID

607271;

UMLS CUI

C1846545;

Automatic exact mappings (from CISMeF team)
- Cisplatin/Dexamethasone/Etoposide [NCIt concept]
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Cyclophosphamide/Doxorubicin/Etoposide [NCIt concept]
- TGFB1 wt Allele [NCIt concept]
- autoimmune lymphoproliferative syndrome [MeSH Descriptor]
CISMeF manual mappings
- Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome type 2B [DO Concept]
Currated CISMeF NLP mapping
- Autoimmune lymphoproliferative syndrome with recurrent viral infections [ORDO Disease]
- autoimmune lymphoproliferative syndrome type 2B [MeSH concept]
- autoimmune lymphoproliferative syndrome type IIb [Disease (Nov.)]
DO Cross reference
- autoimmune lymphoproliferative syndrome type 2B [DO Concept]
Genes related to phenotype
- Caspase 8, apoptosis-related cysteine protease [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased T cell activation [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Defective B cell activation [HPO term]
- Eczema [HPO term]
- Failure to thrive [HPO term]
- Lymphadenopathy [HPO term]
- Pneumonia [HPO term]
- Recurrent herpes [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Reduced CD95-induced lymphocyte apoptosis [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Autoimmune lymphoproliferative syndrome with recurrent viral infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) [SNOMED CT concept]
- Autoimmune lymphoproliferative syndrome with recurrent viral infections [ORDO Disease]
- autoimmune lymphoproliferative syndrome type 2B [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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