loading...| Preferred Name |
Caspase-8 deficiency |
|
| Synonyms |
CASP8D |
|
| Definitions |
(CASP8D) - Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. |
|
| ID |
http://identifiers.org/omim/607271 |
|
| altLabel |
CASP8D |
|
| definition |
(CASP8D) - Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. |
|
| id |
OMIM:607271 |
|
| notation |
OMIM:607271 |
|
| prefLabel |
Caspase-8 deficiency |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/607271 | REXO | SAME_URI | |
| http://identifiers.org/omim/607271 | GEXO | SAME_URI | |
| http://nanbyodata.jp/ontology/NANDO_2200740 | NANDO | LOOM | |
| http://identifiers.org/omim/607271 | REXO | LOOM | |
| http://identifiers.org/omim/607271 | GEXO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_607271 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/607271 | OMIM | LOOM |