KEGG   DISEASE: H00106Help
Entry
H00106                      Disease                                

Name
Complement regulatory protein defects, including the following six diseases:
C1 inhibitor deficiency (hereditary angioedema);
C4 binding protein alpha deficiency;
C4 binding protein beta deficiency;
Factor I deficiency;
Decay-accelerating factor (CD55) deficiency;
CD59 deficiency
Description
To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins. They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP), Factor I, decay accelerating factor (DAF), CD59, and so on. C1-INH (SERPING1) deficiency can be genetic or acquired, and this causes an episodic, local increase in vascular permeability in the subcutaneous and submucosal layers, identified as angioedema (hereditary or acquired). Genetic deficiency of C4BP has only been reported in one individual who developed an illness with similarities to Behcet's syndrome. Heterozygous mutations within the Factor I gene have been recently identified in individuals with atypical hemolytic uremic syndrome (aHUS), while homozygous deficiency of Factor I is an unusual feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic anaemia.
Category
Primary immunodeficiency
BRITE hierarchy
Pathway
Complement and coagulation cascades
Gene
SERPING1 [HSA:710] [KO:K04001]
C4BPA [HSA:722] [KO:K04002]
C4BPB [HSA:725] [KO:K04003]
IF [HSA:3426] [KO:K01333]
DAF [HSA:1604] [KO:K04006]
CD59 [HSA:966] [KO:K04008]
Other DBs
Reference
PMID:19481265 (description, gene)
  Authors
Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F
  Title
Complement in human diseases: Lessons from complement deficiencies.
  Journal
Mol Immunol 46:2774-83 (2009)
Reference
PMID:19162547 (description, gene)
  Authors
Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M
  Title
C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress.
  Journal
Trends Mol Med 15:69-78 (2009)
Reference
PMID:18374984 (description, gene)
  Authors
Ponce-Castro IM, Gonzalez-Rubio C, Delgado-Cervino EM, Abarrategui-Garrido C, Fontan G, Sanchez-Corral P, Lopez-Trascasa M
  Title
Molecular characterization of Complement Factor I deficiency in two Spanish families.
  Journal
Mol Immunol 45:2764-71 (2008)
Reference
PMID:17162365 (gene)
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
Reference
PMID:17952897 (gene)
  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)

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