RASGRP2base: Leukocyte adhesion deficiency III

Version 1.0 last updated 30 August, 2007 contains 2 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the RASGRP2base :

LAD-III deficiency involves a general defect in integrin activation. Defects in the activation of β1, β2 and β3 integrin subunits have been observed and it seems that this rare syndrome may be due to several defects in molecules involved in integrin activation. In LAD3 deficiency, the definitive diagnosis is established by the presence of defects in the integrin activation process while the CD18 molecule is structurally intact.

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: RASGRP2base