SLC35C1base: Leukocyte adhesion deficiency I I (LAD-II)

Version 1.0 last updated 16 June, 2011 contains 9 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the SLC35C1base (previously known as FUCT1base) :

Rare leukocyte adhesion deficiency type II (LAD II) is due to an inborn error in fucose metabolism caused by mutations in the guanosine diphosphate-fucose transporter gene. There is a failure to express the ligand for E and P selectin, sialyl Lewis-X (CD15s), which is expressed on leukocytes. The patients are unable to fucosylate other glycoproteins, including the H blood group polysaccharide, so they are Bombay phenotype, ie, negative for the O and H blood group antigens and capable of making anti-H antibody. The immunoglobulin M (IgM) and immunoglobulin G (IgG) heavy chains also are not fucosylated, although IgM and IgG are present in normal amounts.

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: SLC35C1base