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GTR Home > Conditions/Phenotypes > Leukocyte adhesion deficiency 3

Leukocyte adhesion deficiency 3

Synonyms
INTEGRIN ACTIVATION DEFICIENCY DISEASE; LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT; Leukocyte adhesion deficiency, type III
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920. [from OMIM]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KIND3, MIG-2, MIG2B, UNC112C, URP2, URP2SF, FERMT3
    Summary: FERM domain containing kindlin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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