Evaluation of cytokine genetic polymorphisms in adult patients with common variable immunodeficiency: A single-center study

Perovic, Dijana; Perović, Vladimir; Pravica, Vera; Bonaci-Nikolic, Branka; Mijanovic, Radovan; Bunjevacki, Vera

doi:10.1016/j.imlet.2016.05.005

Cited by 6 publications

(3 citation statements)

References 37 publications

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“…Another group found that splenomegaly, one of the most common complications of CVID, was associated with an INFG polymorphism [94]. Along these lines, we found IFN-γ-expression to be a defining feature of the ILC-3 cells increased in these CVID patients, as cells were CD127+ and expressed intracellular IFN-γ as well as T-bet, the key transcription factor for IFN-γ-production [62••].…”

Section: Ilcs and Inflammatory Diseasessupporting

confidence: 63%

Dysregulation of Innate Lymphoid Cells in Common Variable Immunodeficiency

Maglione

Cols

Cunningham‐Rundles

2017

Curr Allergy Asthma Rep

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Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immune deficiency. With widespread use of immunoglobulin replacement therapy, non-infectious complications, such as autoimmunity, chronic intestinal inflammation, and lung disease, have replaced infections as the major cause of morbidity and mortality in this immune deficiency. The pathogenic mechanisms that underlie the development of these complications in CVID are not known; however, there have been numerous associated laboratory findings. Among the most intriguing of these associations is elevation of interferon signature genes in CVID patients with inflammatory/autoimmune complications, as a similar gene expression profile is found in systemic lupus erythematosus and other chronic inflammatory diseases. Linked with this heightened interferon signature in CVID is an expansion of circulating IFN-γ-producing innate lymphoid cells. Innate lymphoid cells are key regulators of both protective and pathogenic immune responses that have been extensively studied in recent years. Further exploration of innate lymphoid cell biology in CVID may uncover key mechanisms underlying the development of inflammatory complications in these patients and may inspire much needed novel therapeutic approaches.

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Section: Ilcs and Inflammatory Diseasessupporting

confidence: 63%

Dysregulation of Innate Lymphoid Cells in Common Variable Immunodeficiency

Maglione

Cols

Cunningham‐Rundles

2017

Curr Allergy Asthma Rep

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“…1 Data for controls samples for rs1800896 and rs1800871 were partly taken from another study (Perovic et al 2016). …”

Section: Resultsmentioning

confidence: 99%

“…Genotyping was performed using real-time PCR with commercial TaqMan probes (C_1747360_10 for rs1800896, C_1747362_10 for rs1800871 and C_15983681_20 for rs3024505; all from Applied Biosystems Inc -ABI, Foster City, USA) with Maxima Probe qPCR Master Mix (Fermentas Thermo Fisher Scientific Inc.) following procedure recommended by the manufacturer of probes. Data for controls samples for rs1800896 and rs1800871 were partly taken from another study in Serbian population (Perovic et al 2016). Alleles and genotypes for rs1800872 SNP were inferred from rs1800871 results with allele A instead of allele T, since these two polymorphisms are shown to be in complete linkage disequilibrium (Turner et al 1997).…”

Section: Genotypingmentioning

confidence: 99%

The Polymorphism rs3024505 (C/T) Downstream of the <i>IL10 </i>Gene Is Associated with Crohn’s Disease in Serbian Patients with Inflammatory Bowel Disease

Mijač

Petrović

Djuranović

et al. 2016

Tohoku J. Exp. Med.

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Inflammatory bowel disease (IBD), manifesting as Crohn's disease (CD) and ulcerative colitis (UC), is characterized by recurring episodes of inflammation in gastrointestinal tract, in which aberrant production of regulatory cytokine interleukin-10 (IL-10) presumably plays important role. Single nucleotide polymorphisms (SNPs) that affect IL-10 production, such as rs1800896 (G/A) at position -1082 and rs1800871 (C/T) at position -819 in the promoter region of the IL10 gene, have been associated with CD and/or UC, but the results were inconsistent. Another SNP that may alter IL-10 production, rs3024505 (C/ T) located immediately downstream of the IL10 gene has been recently identified. T allele of rs3024505 was associated with both UC and CD in Western populations, but the studies from East European countries are lacking. Therefore, our aim was to assess the association of rs3024505, rs1800896 and rs1800871 with Serbian IBD patients. To this end, 107 CD and 99 UC patients and 255 healthy controls were genotyped. As a result, T allele of rs3024505 was associated with CD at allelic, genotypic (GT genotype) and haplotypic (GCCT haplotype) level, suggesting potential role of this variant in susceptibility to CD. In contrast, CD patients carrying C allele of rs3024505 had significantly increased risk of anemia and stricturing/penetrating behavior. No association was observed between rs3024505 and UC or SNPs in IL10 promoter region and any form of IBD. In conclusion, rs3024505 SNP flanking the IL10 gene is associated with susceptibility and severity of disease in Serbian CD patients, further validating its role as a potential biomarker in IBD.

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