Eight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene

Stem Cell Res. 2024 Dec:81:103598. doi: 10.1016/j.scr.2024.103598. Epub 2024 Oct 24.

Abstract

Leukocyte Adhesion Deficiency Type I (LAD I) is a rare inborn error of immunity caused by mutations in the ITGB2 gene coding for β2-integrin CD18 on the surface of leukocytes. Affected patients display severe clinical manifestations with life threatening infections and inflammatory complications due to an impaired ability of leukocytes to transmigrate from the blood vessel to the tissue. Here we describe the generation of eight induced pluripotent stem cell lines from two patients with LAD I and mutations in the ITGB2 gene. With this project we contribute patient individualized cell lines for explorative research in a rare disease.

MeSH terms

  • CD18 Antigens* / genetics
  • CD18 Antigens* / metabolism
  • Cell Line
  • Female
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocyte-Adhesion Deficiency Syndrome* / genetics
  • Male
  • Mutation*

Substances

  • CD18 Antigens

Supplementary concepts

  • Leukocyte adhesion deficiency type 1