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Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient

journal contribution
submitted on 2024-04-01, 10:43 and posted on 2024-04-01, 10:44 authored by Iman Hawari, Johan Ericsson, Basirudeen Syed Ahamed Kabeer, Damien Chaussabel, Asma Alsulaiti, Sanaa A. Sharari, Cristina Maccalli, Faiyaz Ahmad Khan, Khalid Hussain

The scope of this study is to show that DM in a LRBA-deficient patient with a stop codon mutation (c.3999 G > A) was not mediated through autoimmunity. We have evaluated the ability of the proband’s T cells to be activated by assessing their CTLA-4 expression. A nonsignificant difference was seen in the CTLA-4 expression on CD3+ T cells compared to the healthy control at basal level and after stimulation with PMA/ionomycin. Blood transcriptomic analysis have shown a remarkable increase in abundance of transcripts related to CD71+ erythroid cells. There were no differences in the expression of modules related to autoimmunity diseases between the proband and pooled healthy controls. In addition, our novel findings show that siRNA knockdown of LRBA in mouse pancreatic β-cells leads reduced cellular proinsulin, insulin and consequently insulin secretion, without change in cell viability in cultured MIN6 cells.

Other Information

Published in: Biology
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  • English



Publication Year

  • 2022

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • College of Health and Life Sciences - HBKU
  • Sidra Medicine