| H00102 | |
| H number | H00102 |
| Name | Classic complement pathway component defects |
| 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 |
| Network | nt06513 Complement cascade |
| Gene | C1QA [HSA:712] [KO:K03986] C1QB [HSA:713] [KO:K03987] C1QG [HSA:714] [KO:K03988] C1R [HSA:715] [KO:K01330] C1S [HSA:716] [KO:K01331] C2 [HSA:717] [KO:K01332] C3 [HSA:718] [KO:K03990] C4A [HSA:720] [KO:K03989] C4B [HSA:721] [KO:K03989] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A00.10 OMIM: 613652 613783 217000 613779 614380 614379 120790 |
| 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 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 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 |