KEGG   DISEASE: Late complement pathway defects
Entry
H00103                      Disease                                

Name
Late complement pathway defects
  Subgroup
C5 deficiency
C6 deficiency
C7 deficiency
C8 deficiency
C9 deficiency
Description
Late complement component (the final common pathway C5b-C9 components) deficiencies are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly reduced levels of the respective complement component. Generally, patients with deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently involve unusual serotypes of the organism.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00103  Late complement pathway 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
    H00103  Late complement pathway defects
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
C5 [HSA:727] [KO:K03994]
C6 [HSA:729] [KO:K03995]
C7 [HSA:730] [KO:K03996]
C8 alpha [HSA:731] [KO:K03997]
C8 beta [HSA:732] [KO:K03998]
C8 gamma [HSA:733] [KO:K03999]
C9 [HSA:735] [KO:K04000]
Other DBs
ICD-11: 4A00.11
OMIM: 609536 612446 610102 608957 613790 613789 613825
Reference
  Authors
Pettigrew HD, Teuber SS, Gershwin ME
  Title
Clinical significance of complement deficiencies.
  Journal
Ann N Y Acad Sci 1173:108-23 (2009)
DOI:10.1111/j.1749-6632.2009.04633.x
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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