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leukocyte adhesion deficiency type 1

Disease ID:1182
Name:leukocyte adhesion deficiency type 1
Associated with:1 target
LAD1 is an inherited immunodeficiency disease. Mutations in the β2 intergrin (ITGB2) gene lead to absent, reduced, or aberrant CD18 protein expression, resulting in subnormal levels of β2 intergrins on leukocyte membranes. This disrupts neutrophil migration (extravasion) to sites of infection resulting in recurrent infections.
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OMIM: 116920


integrin, beta 2 subunit (complement component 3 receptor 3 and 4 subunit)
References:  1


No ligand related data available for leukocyte adhesion deficiency type 1


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1. Kishimoto TK, Hollander N, Roberts TM, Anderson DC, Springer TA. (1987) Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. Cell, 50 (2): 193-202. [PMID:3594570]