KEGG   DISEASE: Classic complement pathway component defects
Entry
H00102                      Disease                                

Name
Classic complement pathway component defects
  Supergrp
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways of the complement response. Defects in the classic pathway account for the more common type of complement deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement classical pathway components, is associated with SLE in 10% of the cases. Complete C1q and C4 deficiencies are less frequent but associated with a higher prevalence of SLE.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00102  Classic complement pathway component defects
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00102  Classic complement pathway component defects
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
C1QA [HSA:712] [KO:K03986]
C1QB [HSA:713] [KO:K03987]
C1QG [HSA:714] [KO:K03988]
C1R [HSA:715] [KO:K01330]
C1S [HSA:716] [KO:K01331]
C2 [HSA:717] [KO:K01332]
C3 [HSA:718] [KO:K03990]
C4A [HSA:720] [KO:K03989]
C4B [HSA:721] [KO:K03989]
Other DBs
ICD-11: 4A00.10
OMIM: 613652 613783 217000 613779 614380 614379 120790
Reference
  Authors
Bussone G, Mouthon L
  Title
Autoimmune manifestations in primary immune deficiencies.
  Journal
Autoimmun Rev 8:332-6 (2009)
DOI:10.1016/j.autrev.2008.11.004
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
  Authors
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
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