Erişkinlerde İnflamatuvar Barsak Hastalığı Ve Çölyak Hastalığı Tanıları İle İzlenen Hastalarda LRBA (Lps-Responsive Beige-Like Anchor) Eksikliği İle İlişkili Primer İmmün Yetmezlik Varlığının Araştırılması
Bolek, Ertugrul Cagri
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In the present study, it was aimed to investigate the presence of the primary immunodeficiency disorder associated with LRBA deficiency in adult patients followed-up with diagnosis of inflammatory bowel disease (IBD) and celiac disease (CD). For this purpose, CTLA-4 and LRBA protein expression levels of activated peripheral blood CD4+CD25highCD127low/-FoxP3+ Treg cells belonging to 35 patients (CD= 11 and IBD = 24) and 13 healthy controls, were evaluated by flow cytometric analysis. According to comparison between healthy controls and sick individuals; Treg percentages were found to have lower levels in the patient group (controls: 5.8%, sick individuals: 5.1%; p = 0.19), especially in IBD group (IBD: 4.5%, CD: 5.2%). Median FI levels for CTLA-4 and LRBA expression were compared to healthy controls in each experiment by applying the correction ratio; low levels of LRBA expression was determined in 12 (50%) of the patients with IBD. According to scatter-plot graph of all individuals for CTLA-4 and LRBA expressions; there was a linear correlation between the flow-cytometric expression of the two molecules. A new heterozygous-inherited genetic variant in the LRBA gene was detected in one among 4 individuals (which have low LRBA expression) at the primary immunodeficiency panel via next generation sequencing analysis. These results illuminate the some factors or changes associated with the immune-related enteropathy of the intestinal system, which is considered to be the largest secondary lymphoid organ. Findings should be evaluated in the other patients have low-expression for LRBA (and maybe in another larger cohort). It is considered that it may provide useful data in terms of diagnosis, etiology and treatment course of the immune-related enteropathy, especially IBD.