DISEASE: Mannose-binding lectin pathway component defects

Entry

H00105                      Disease

Name

Mannose-binding lectin pathway component defects;
Lectin complement activation pathway, defect in (LCAPD)

Subgroup

Mannose-binding lectin deficiency
Mannose-binding lectin-associated serine protease (MASP) 2 deficiency
Ficolin 3 deficiency

Supergrp

Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]

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

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H00105  Mannose-binding lectin pathway component 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
    H00105  Mannose-binding lectin pathway component defects

Related
pathway

hsa04610

Complement and coagulation cascades

Network

nt06513 Complement cascade

Gene

(LCAPD1) MBL2 [HSA:4153] [KO:K03991]
(LCAPD2) MASP2 [HSA:10747] [KO:K03993]
(LCAPD3) FCN3 [HSA:8547] [KO:K10104]

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

Reference

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

Reference

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

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: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

» Japanese version

All links

Network (4)   
   KEGG NETWORK (1)   
   KEGG VARIANT (3)   
Disease (3)   
   OMIM (3)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (6)   
   PubMed (6)   
All databases (19)   

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