KEGG   DISEASE: Mannose-binding lectin pathway component defectsHelp
Entry
H00105                      Disease                                

Name
Mannose-binding lectin pathway component defects
  Subgroup
Mannose-binding lectin deficiency
Mannose-binding lectin-associated serine protease (MASP) 2 deficiency
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
BRITE hierarchy
Pathway
hsa04610  Complement and coagulation cascades
Gene
MBL2 [HSA:4153] [KO:K03991]
MASP2 [HSA:10747] [KO:K03993]
Other DBs
ICD-11: 4A00.1Y
OMIM: 614372 613791
Reference
  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
  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
  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
  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
  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

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