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

Related
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

PMID:19758139

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

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: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)

» Japanese version

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Disease (6)   
   OMIM (6)   
Gene (14)   
   KEGG ORTHOLOGY (7)   
   KEGG GENES (7)   
Literature (9)   
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