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leukocyte adhesion deficiency type 1

GtoPdb Disease Summaries

This section gives an overview of the disease, and where available shows the following:

  • Synonyms: Shows known synonyms for the disease.
  • Description: Gives a basic description/definition of the disease.
  • Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
  • Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
  • Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.

More information can be found in the help pages.

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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

Targets

GtoPdb Disease Summaries - Targets

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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.

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Key to terms and symbols
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

Ligands

GtoPdb Disease Summaries - Ligands

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  • Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
  • Immuno: Immuno icon indicates the ligand is immuno-relevant

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  • Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
  • Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
  • Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.

More information can be found in the help pages.

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No ligand related data available for leukocyte adhesion deficiency type 1

References

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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]