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leukocyte adhesion deficiency type 1

Disease ID:1182
Name:leukocyte adhesion deficiency type 1
Associated with:1 target
1 immuno-relevant 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 (extravasation) 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)
Comments:  Multiple inherited mutations in the integrin β2 protein (CD18) that reduce expression or function have been identified as the causative factor in patients with LAD1.
References:  3


No ligand related data available for leukocyte adhesion deficiency type 1


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1. Dinauer MC. (2019) Inflammatory consequences of inherited disorders affecting neutrophil function. Blood, 133 (20): 2130-2139. [PMID:30898864]

2. Fagerholm SC, Guenther C, Llort Asens M, Savinko T, Uotila LM. (2019) Beta2-Integrins and Interacting Proteins in Leukocyte Trafficking, Immune Suppression, and Immunodeficiency Disease. Front Immunol, 10: 254. [PMID:30837997]

3. 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]

4. Sun B, Chen Q, Dong X, Liu D, Hou J, Wang W, Ying W, Hui X, Zhou Q, Yao H et al.. (2019) Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations. J Clin Immunol, 39 (3): 309-315. [PMID:30919141]