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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1182 | |
Name: | leukocyte adhesion deficiency type 1 | |
Associated with: | 1 target | |
1 immuno-relevant target | ![]() |
Description |
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. |
Database Links |
OMIM:
116920 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖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 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for leukocyte adhesion deficiency type 1
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]