| H00103 | |
| H number | H00103 |
| Name | Late complement pathway defects |
| 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 |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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) 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) 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) 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) 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) 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) |