| H00105 | |
| H number | H00105 |
| Name | Mannose-binding lectin pathway component defects; Lectin complement activation pathway, defect in (LCAPD) |
| Description | There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune disorders. MBL deficiency is one of the most common human immunodeficiencies and arises primarily from three single point mutations in exon 1 of the MBL-2 gene. These mutations result in a failure to assemble fully functional multimeric protein. Inherited MASP-2 deficiency has been described as the result of a mutation causing the exchange of aspartic acid with a glycine at position 105, a position in the first domain, CUB1, involved in calcium binding. This mutation abolishes the binding to MBL and ficolins, and deprives MASP-2 of functional activity. |
| Category | Primary immunodeficiency |
| Network | nt06513 Complement cascade |
| Gene | (LCAPD1) MBL2 [HSA:4153] [KO:K03991] (LCAPD2) MASP2 [HSA:10747] [KO:K03993] (LCAPD3) FCN3 [HSA:8547] [KO:K10104] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A00.1Y OMIM: 614372 613791 613860 |
| Reference | PMID:19481265 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) DOI:10.1016/j.molimm.2009.04.029 PMID:14568388 AUTHORS Turner MW TITLE The role of mannose-binding lectin in health and disease. JOURNAL Mol Immunol 40:423-9 (2003) DOI:10.1016/S0161-5890(03)00155-X PMID:16189649 AUTHORS Sorensen R, Thiel S, Jensenius JC TITLE Mannan-binding-lectin-associated serine proteases, characteristics and disease associations. JOURNAL Springer Semin Immunopathol 27:299-319 (2005) DOI:10.1007/s00281-005-0006-z 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:19535802 AUTHORS Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P TITLE Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. JOURNAL N Engl J Med 360:2637-44 (2009) DOI:10.1056/NEJMoa0900381 |