National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Complement Deficiency

Synonyms

Complement Deficiency

Definitions

A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4691

ALT_DEFINITION

A genetic deficiency of any component of the complement system, which may be associated with various pathologic conditions depending on the protein and activation pathway involved.

code

C4691

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118468

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

Contributing_Source

NICHD

DEFINITION

A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease.

FULL_SYN

Complement Deficiency

label

Complement Deficiency

Legacy Concept Name

Complement_Deficiency

Preferred_Name

Complement Deficiency

prefixIRI

Thesaurus:C4691

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0272242

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3131

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