About: Primary Immunodeficiency Pathway

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Attributes	Values
rdf:type	Class
rdfs:label	Primary Immunodeficiency Pathway
rdfs:subClassOf	Disease Pathway
Semantic_Type	Functional Concept
Preferred_Name	Primary Immunodeficiency Pathway
UMLS_CUI	C2984310
KEGG_ID	hsa05340
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.KEGG
FULL_SYN	Primary Immunodeficiency PathwayPTNCI Primary immunodeficiencyPTKEGG
code	C91500
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