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
  Supergrp
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) 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
Pathway
hsa04610  Complement and coagulation cascades
Network
nt06513 Complement cascade
Gene
(C5D) C5 [HSA:727] [KO:K03994]
(C6D) C6 [HSA:729] [KO:K03995]
(C7D) C7 [HSA:730] [KO:K03996]
(C8D1) C8A [HSA:731] [KO:K03997]
(C8D2) C8B [HSA:732] [KO:K03998]
(C9D) C9 [HSA:735] [KO:K04000]
C8G [HSA:733] [KO:K03999]
Other DBs
ICD-11: 4A00.11
OMIM: 609536 612446 610102 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
Reference
PMID:7730648 (C5)
  Authors
Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
  Title
Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
  Journal
J Immunol 154:5464-71 (1995)
Reference
PMID:8690922 (C6)
  Authors
Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE
  Title
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
  Journal
J Immunol 156:2309-15 (1996)
Reference
PMID:8892662 (C7)
  Authors
Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE
  Title
Genetic bases of human complement C7 deficiency.
  Journal
J Immunol 157:4239-43 (1996)
Reference
PMID:9759902 (C8A)
  Authors
Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y, Hayashi K
  Title
Genetic basis of human complement C8 alpha-gamma deficiency.
  Journal
J Immunol 161:3762-6 (1998)
Reference
PMID:8098723 (C8B)
  Authors
Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM
  Title
Genetic basis of human complement C8 beta deficiency.
  Journal
J Immunol 150:4943-7 (1993)
Reference
PMID:9144525 (C9)
  Authors
Witzel-Schlomp K, Spath PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM
  Title
The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
  Journal
J Immunol 158:5043-9 (1997)
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