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Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorsOgulur, Ismail; Kiykim, Ayca; Nain, Ercan; Somer, Ayper; Guven, Ayla; Baris, Safa; Ozen, Ahmet; Karakoc Aydiner, Elif
dc.date.accessioned2022-03-14T08:30:15Z
dc.date.available2022-03-14T08:30:15Z
dc.date.issued2017-11-17
dc.description.abstractObjective: 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 (Delta MFI) 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..MFIs 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.
dc.identifier.doi10.21911/aai.368
dc.identifier.issn1308-9234
dc.identifier.urihttps://hdl.handle.net/11424/241886
dc.identifier.wosWOS:000424165600003
dc.language.isotur
dc.publisherBILIMSEL TIP YAYINEVI
dc.relation.ispartofASTIM ALLERJI IMMUNOLOJI
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectIntracellular
dc.subjectLRBA
dc.subjectprotein expression
dc.subjectREGULATORY T-CELLS
dc.subjectMUTATIONS
dc.titleProtein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer
dc.typearticle
dspace.entity.typePublication
local.avesis.id2eda8c7c-dc50-42d7-9f16-07d427ebafea
local.import.packageSS16
local.indexed.atWOS
local.indexed.atTRDIZIN
local.journal.numberofpages6
oaire.citation.endPage128
oaire.citation.issue3
oaire.citation.startPage123
oaire.citation.titleASTIM ALLERJI IMMUNOLOJI
oaire.citation.volume15
relation.isAuthorOfPublication3e9c297b-e636-4836-8f61-dc9c8b7c29cf
relation.isAuthorOfPublication.latestForDiscovery3e9c297b-e636-4836-8f61-dc9c8b7c29cf

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