Preferred Name |
Primary Immunodeficiency Pathway |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91500 |
ALT_DEFINITION |
Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs. |
code |
C91500 |
FULL_SYN |
Primary Immunodeficiency Pathway Primary immunodeficiency |
KEGG_ID |
hsa05340 |
label |
Primary Immunodeficiency Pathway |
Preferred_Name |
Primary Immunodeficiency Pathway |
prefixIRI |
Thesaurus:C91500 |
prefLabel |
Primary Immunodeficiency Pathway |
Semantic_Type |
Functional Concept |
UMLS_CUI |
C2984310 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/PW_0001027 | Pathway Ontology / 通路本体 | LOOM |