ITGB2base: Leukocyte adhesion deficiency I (LAD-I)

Version 1.1 last updated 14 November, 2011 contains 129 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the ITGB2base :

Leukocyte adhesion deficiency type I is caused by a mutation in the common chain of the β2 integrin family CD18. There are three β2 integrins with different α chains but a common β chain, called CD18. Defects in CD18 determine the loss of β2 integrin and the clinical symptoms. Neutrophils are unable to aggregate and do not bind to intercellular adhesion molecules on endhothelial cells. When there is no infection, the neutrophil count is about twice the normal level. LAD I has been described in more than 300 patients worldwide.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: ITGB2base