KEGG DISEASE: Classic complement pathway component defects

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 (CP) 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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H00102  Classic complement pathway component defects
Immune system
  nt06513  Complement cascade
   H00102  Classic complement pathway component defects

Pathway

hsa04610

Complement and coagulation cascades

Network

nt06513 Complement cascade
nt06535 Efferocytosis

Gene

(C1QD1) C1QA [HSA:712] [KO:K03986]
(C1QD2) C1QB [HSA:713] [KO:K03987]
(C1QD3) C1QC [HSA:714] [KO:K03988]
(C1SD) C1S [HSA:716] [KO:K01331]
(C2D) C2 [HSA:717] [KO:K01332]
(C3D) C3 [HSA:718] [KO:K03990]
(C4AD) C4A [HSA:720] [KO:K03989]
(C4BD) C4B [HSA:721] [KO:K03989]

Other DBs

ICD-11:

4A00.10

MeSH:

D000081208 C565170 C565169 C565167

OMIM:

613652 620321 620322 613783 217000 613779 614380 614379

Reference

PMID:19028607

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

PMID:17162365

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

PMID:17952897

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:8840296 (C1QD1)

Authors

Topaloglu R, Bakkaloglu A, Slingsby JH, Mihatsch MJ, Pascual M, Norsworthy P, Morley BJ, Saatci U, Schifferli JA, Walport MJ

Title

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.

Journal

Kidney Int 50:635-42 (1996)
DOI:10.1038/ki.1996.359

Reference

PMID:24160257 (C1QD2)

Authors

Higuchi Y, Shimizu J, Hatanaka M, Kitano E, Kitamura H, Takada H, Ishimura M, Hara T, Ohara O, Asagoe K, Kubo T

Title

The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report.

Journal

Pediatr Rheumatol Online J 11:41 (2013)
DOI:10.1186/1546-0096-11-41

Reference

PMID:8630118 (C1QD3)

Authors

Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ

Title

Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families.

Journal

Arthritis Rheum 39:663-70 (1996)
DOI:10.1002/art.1780390419

Reference

PMID:9856483 (C1SD)

Authors

Inoue N, Saito T, Masuda R, Suzuki Y, Ohtomi M, Sakiyama H

Title

Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.

Journal

Hum Genet 103:415-8 (1998)
DOI:10.1007/s004390050843

Reference

PMID:8621452 (C2D)

Authors

Wetsel RA, Kulics J, Lokki ML, Kiepiela P, Akama H, Johnson CA, Densen P, Colten HR

Title

Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.

Journal

J Biol Chem 271:5824-31 (1996)
DOI:10.1074/jbc.271.10.5824

Reference

PMID:1976733 (C3D)

Authors

Botto M, Fong KY, So AK, Koch C, Walport MJ

Title

Molecular basis of polymorphisms of human complement component C3.

Journal

J Exp Med 172:1011-7 (1990)
DOI:10.1084/jem.172.4.1011

Reference

PMID:8473511 (C4AD)

Authors

Barba G, Rittner C, Schneider PM

Title

Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.

Journal

J Clin Invest 91:1681-6 (1993)
DOI:10.1172/JCI116377

Reference

PMID:3260957 (C4BD)

Authors

Partanen J, Koskimies S, Johansson E

Title

C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.

Journal

J Med Genet 25:387-91 (1988)
DOI:10.1136/jmg.25.6.387

LinkDB

» Japanese version

DISEASE: Ehlers-Danlos syndrome periodontal type

Entry

H02240                      Disease

Name

Ehlers-Danlos syndrome periodontal type

Subgroup

Ehlers-Danlos syndrome type VIII

Supergrp

Ehlers-Danlos syndrome [DS:H00802]

Description

Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.