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

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...

Full description

Saved in:
Bibliographic Details
Published in:Stem cell research 2024-12, Vol.81, p.103598, Article 103598
Main Authors: Fekadu-Siebald, Julia, Fuchs, Nina V, Zahn, Stella, Rommel, Marcel G E, Schenk, Franziska, Huenecke, Sabine, Bremm, Melanie, Kreyenberg, Hermann, Kuci, Zyrafete, Jacobsen, Eva-Maria, Hoenig, Manfred, Schwarz, Klaus, Bader, Peter, Modlich, Ute, König, Renate, Bakhtiar, Shahrzad
Format: Article
Language:English
Subjects:
CD18 Antigens - genetics
CD18 Antigens - metabolism
Cell Line
Female
Humans
Induced Pluripotent Stem Cells - metabolism
Leukocyte-Adhesion Deficiency Syndrome - genetics
Male
Mutation
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103598