Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer

Authors

  • İsmail Öğülür Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul
  • Ayça Kıykım Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul
  • Ercan Nain Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul
  • Ayper Somer Department of Pediatric Infection, İstanbul University, İstanbul Faculty of Medicine, İstanbul
  • Ayla Güven Department of Pediatrics, Göztepe Training and Research Hospital, İstanbul; Department of Pediatrics, Amasya University, Faculty of Medicine, Amasya
  • Safa Barış Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul
  • Ahmet Özen Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul
  • Elif Karakoç Aydıner Department of Pediatric Allergy and Immunology, Marmara University, Faculty of Medicine, İstanbul; Department of Basic Immunology, Marmara University, Faculty of Medicine, İstanbul

Keywords:

Intracellular, LRBA, protein expression

Abstract

Objective: Lipopolysaccharide-responsive beige-like anchor (LRBA) plays a role in cell surface expression of inhibitory cytotoxic T lymphocyte-associated protein-4 (CTLA-4) protein. Recently identified LRBA deficiency leads to immune deficiency and autoimmunity and is diagnosed by mutation analyses and protein expression. Herein, we quantified stimulated and unstimulated intracellular LRBA protein expression by flow cytometry in LRBA deficiency patients.

Materials and Methods: Five LRBA deficient patients and seven healthy controls were evaluated. The LRBA expressions were assessed in peripheral-blood-mononuclear-cells in the presence or absence of phorbol-miristat-acetate and ionomycin stimulation. The difference in mean-fluorescence-intensity (ΔMFI) was calculated.

Results: The differences in mean-fluorescence-intensity values of LRBA by flow cytometry were 24±9 for the healthy controls and 4.8±2.8 for the patients. ΔMFIs were 20.8 for P3, 19 for P4 and 49.6 for healthy controls with stimulants and 4.8, 4.6 and 20.1 respectively without stimulants.

Conclusion: As a rapid and widely available assay, flow cytometric assessment of intracellular LRBA expression has been found to be an effective and reliable method in the identification of LRBA deficiency.

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Published

2018-01-03

How to Cite

1.
Öğülür İsmail, Kıykım A, Nain E, Somer A, Güven A, Barış S, Özen A, Karakoç Aydıner E. Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer. AAI [Internet]. 2018 Jan. 3 [cited 2022 Jan. 27];15(3):123-8. Available from: https://aai.org.tr/index.php/aai/article/view/368

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Section

Research Articles