Behçet's: A Disease or a Syndrome? Answer from an Expression Profiling Study

Oguz, Ali Kemal; Yılmaz, Seda Taşır; Oygür, Çağdaş Şahap; Çandar, Tuba; Sayin, Irmak; Kılıçoğlu, Sibel Serin; Ergun, Ihsan; Ateş, Aşkın; Özdağ, Hilal; Akar, Nejat

doi:10.1371/journal.pone.0149052

Cited by 14 publications

(39 citation statements)

References 39 publications

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“…CCL4 (C-C motif chemokine ligand 4) belongs to the cytokine family and is involved in immunoregulation and inflammation. It has been reported that CCL4 is associated with BD immunopathogenesis [ 42 ]. In the majority of VKH cases, the expression of another family member CCL17 was lower in cerebrospinal fluid than in serum, which indicated its potential function in VKH [ 43 ].…”

Section: Resultsmentioning

confidence: 99%

Determination of Genes Related to Uveitis by Utilization of the Random Walk with Restart Algorithm on a Protein–Protein Interaction Network

Yan

et al. 2017

IJMS

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Uveitis, defined as inflammation of the uveal tract, may cause blindness in both young and middle-aged people. Approximately 10–15% of blindness in the West is caused by uveitis. Therefore, a comprehensive investigation to determine the disease pathogenesis is urgent, as it will thus be possible to design effective treatments. Identification of the disease genes that cause uveitis is an important requirement to achieve this goal. To begin to answer this question, in this study, a computational method was proposed to identify novel uveitis-related genes. This method was executed on a large protein–protein interaction network and employed a popular ranking algorithm, the Random Walk with Restart (RWR) algorithm. To improve the utility of the method, a permutation test and a procedure for selecting core genes were added, which helped to exclude false discoveries and select the most important candidate genes. The five-fold cross-validation was adopted to evaluate the method, yielding the average F1-measure of 0.189. In addition, we compared our method with a classic GBA-based method to further indicate its utility. Based on our method, 56 putative genes were chosen for further assessment. We have determined that several of these genes (e.g., CCL4, Jun, and MMP9) are likely to be important for the pathogenesis of uveitis.

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Section: Resultsmentioning

confidence: 99%

Determination of Genes Related to Uveitis by Utilization of the Random Walk with Restart Algorithm on a Protein–Protein Interaction Network

Yan

et al. 2017

IJMS

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“…This mutation causes decreased A20 expression and results in immune dysregulation with increased NF-κB activity in response to TNF-α ( 10 ); it is also proposed as a risk factor for autoimmune disorders ( 11 , 12 ). Additionally, TNFAIP3 is reported to be linked with susceptibility to BD ( 4 , 13 , 14 ). Intestinal Behcet's disease is considered a polygenic disease with a strong genetic background, but its diagnosis is still based on typical intestinal ulcers and manifestations of systemic BD ( 2 ).…”

Section: Discussionmentioning

confidence: 99%

A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report

Chen

Huang

et al. 2020

Front. Immunol.

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Intestinal Behcet's disease (iBD) is an autoimmune disorder diagnosed by typical intestinal ulcers and systemic Behcet's disease (BD) manifestations. Haploinsufficiency of A20 (HA20) is a recently described autoinflammatory disease with a phenotype resembling BD, caused by heterozygous loss-of-function mutations in TNFAIP3 gene (encoding A20). Methods: We described a 29-year-old female with iBD-like symptoms including relapsing ulceration of intestinal anastomosis, recurrent oral ulcers and vasculitis in extremities. Due to the atypical intestinal ulcers with long segmental involvement and intestinal obstruction, whole exome sequencing (WES) was performed to screen for the underlying genetic defect and the identified gene was confirmed by Sanger sequencing. The expression levels of A20 was evaluated by Western blot. Sanger sequencing and Western blot were also performed in the patient's family members. Results: A heterozygous mutation of TNFAIP3 (c.305A>G, p. Asn 102 Ser) was identified in the patient. The identical TNFAIP3 mutation was also found in her father and brother who had suffered from recurrent oral ulcers since childhood. Functional experiments revealed that the expression of A20 was decreased in the peripheral blood mononuclear cells of the patient and her family members who carried the TNFAIP3 mutation. Conclusion: We described a Chinese patient with a novel heterozygous mutation in TNFAIP3 who developed iBD-like symptoms. We proposed that the TNFAIP3 heterozygous mutation (c.305A>G, p. Asn 102 Ser) with an insufficient expression of A20 may be associated with the iBD phenotype in patients.

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“…Behcet's disease (BD) is an inflammatory vascular disease causing superficial thrombophlebitis and deep vein thrombosis. [1][2][3] Violating arterial system, especially PAA is rare in BD. This case was complicated with PAA and PE.…”

Section: [ ( F I G _ 1 ) T D $ F I G ]mentioning

confidence: 99%

Behcet's disease with pulmonary artery aneurysm and Talaromyces marneffei

Qiu

Zhang

2017

International Journal of Infectious Diseases

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This case describes an afebrile 62-year-old woman, with multiple skin lesions for 2 years and paroxysmal chest pain for 10 months. Pathergy test was positive. Mucocutaneous lesions included oral ulcerations, red papules, and skin ulcerations in the trunk and lower legs (Fig. 1A) with purulent discharge. C-reactive protein and D-dimer were 20.49 mg/L & 1851 ng/mL respectively. Blood gas analysis showed hypoxemia. Blood test results for CD4 & CD8 lymphocytes, antistreptolysin O, anti-nuclear antibody, rheumatoid factor, HIV and pathogens in sputum, blood and bone marrow were negative. Chest high-resolution computed tomography (HRCT) showed pulmonary artery aneurysm (PAA) (Fig. 1B-D), and pulmonary embolism (PE) (Fig. 1B and C). The skin biopsy pathology confirmed vasculitis (Fig. 1E). Behcet's disease (BD) with PAA and PE was diagnosed. Administration of antibiotics, anti-coagulant and oral prednisone 40 mg/d for 2-weeks relieved chest pain, but worsened skin ulcerations around the lower leg. Culture of skin lesions in the lower right leg was positive for T. marneffei (Fig. 1F). Her condition improved after intravenous liposomal amphotericin B for 2 weeks. No relapse of penicilliosis was seen in the 4 months of continued follow-up.

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Behçet's: A Disease or a Syndrome? Answer from an Expression Profiling Study

Cited by 14 publications

References 39 publications

Determination of Genes Related to Uveitis by Utilization of the Random Walk with Restart Algorithm on a Protein–Protein Interaction Network

Determination of Genes Related to Uveitis by Utilization of the Random Walk with Restart Algorithm on a Protein–Protein Interaction Network

A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report

Behcet's disease with pulmonary artery aneurysm and Talaromyces marneffei

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