Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study

Urgancı, Nafiye; Özgenç, Funda; Kuloğlu, Zarife; Yüksekkaya, Hasan Ali; Sarı, Sinan; Erkan, Tülay; Önal, Zerrin; Çaltepe, Gönül; Akçam, Mustafa; Arslan, Duran; Arslan, Nur; Artan, Reha; Aydoğan, Ayşen; Balamtekin, Necati; Baran, Maşallah; Baysoy, Gökhan; Çakır, Murat; Dalgıç, Buket; Doğan, Yaşar; Durmaz, Özlem; Ecevıt, Çiğdem; Eren, Makbule; Gökçe, Selim; Gülerman, Fulya; Gürakan, Figen; Hızlı, Şamil; Işık, İshak Abdurrahman; Kalaycı, Ayhan Gazi; Kansu, Aydan; Kutlu, Tufan; Karabi̇ber, Hamza; Kasırga, Erhun; Kutluk, Günsel; Hoşnut, Ferdağ Özbay; Özen, Hasan; Özkan, Tanju; Öztürk, Yeşim; Tunçel, Tuba; Tutar, Engin; Tümgör, Gökhan; Ünal, Fatih; Uğraş, Meltem; Üstündağ, Gonca; Yaman, Ali

doi:10.5152/tjg.2021.20057

Cited by 8 publications

(11 citation statements)

References 26 publications

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“…The expected prevalence of FMF in the general adult population in Turkey is ~0.1% 18 . In the current study, 3.8% (n=8) of CD patients had a coexisting FMF, which is 35 to 40 times higher than expected in an endemic region for FMF.…”

Section: Discussioncontrasting

confidence: 44%

“…Some studies report a higher prevalence of MEFV mutation carrier state in IBD patients than in the healthy population and suggest that MEFV mutations may play a role in the pathogenesis of IBD. 16,17 In contrast, other studies report a similar prevalence in patients with IBD. 1,10,12 Only 1 study was found in the current literature investigating the prevalence of coexisting FMF in adult IBD patients and its impact.…”

Section: Discussionmentioning

confidence: 82%

“…Most published studies have investigated the incidence of MEFV mutation carriers in IBD patients. Some studies report a higher prevalence of MEFV mutation carrier state in IBD patients than in the healthy population and suggest that MEFV mutations may play a role in the pathogenesis of IBD 16,17 . In contrast, other studies report a similar prevalence in patients with IBD 1,10,12 …”

Section: Discussionmentioning

confidence: 99%

“…In the current study, 3.8% (n=8) of CD patients had a coexisting FMF, which is 35 to 40 times higher than expected in an endemic region for FMF. Urganci et al 17 conducted a retrospective, multicenter study that included 597 children with IBD (373 ulcerative colitis and 224 CD) and reported homozygous MEFV mutation in 24 of 224 CD patients (10.7%). FMF diagnosis is based on clinical criteria combined with ethnic origin and family history, which can be supported but not excluded by genetic assessment 3 .…”

Section: Discussionmentioning

confidence: 99%

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The Influence of Coexisting Familial Mediterranean Fever on Crohn’s Disease

Kılınçalp

Yüksel

2022

Journal of Clinical Gastroenterology

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Goal:The goal of this study was to evaluate the impact of coexisting familial Mediterranean fever (FMF) on Crohn's disease (CD) patients' phenotype and disease course in an endemic region for FMF.Background: CD and FMF are inflammatory diseases characterized by recurrent abdominal pain and fever attacks. The impact of coexisting FMF on CD patients' phenotype and disease course is currently unknown. Materials and Methods:We reviewed the medical records of 210 adult CD patients who were regularly followed up at a tertiary gastroenterology clinic between November 2006 and April 2018. The patients were divided into FMF positive (CD-FMF) and FMF negative (CD-control) groups. The severity of CD was assessed by the rate of hospitalization because of CD, the need for biological therapy, and whether surgery was performed for CD.Results: Eight (3.8%) of 210 CD patients have concomitant FMF, which is 35 to 40 times higher than expected in an endemic region for FMF. Baseline demographic parameters, location/behavior of the CD, and initial therapeutic regimens were similar between the 2 groups. The prevalence of peripheral arthritis was significantly higher in CD-FMF group (37.5% vs. 10.4%, respectively, P = 0.04). A significantly greater proportion of the CD-FMF patients had received biological therapy (50% vs. 11.9%; P = 0.012). Steroid dependence and CD-related hospitalization rates in the CD-FMF group were relatively higher but were not statistically significant (37.5% vs. 15.3 and 62.5% vs. 41.1%). Conclusions:Our findings indicate that the disease course of CD tends to be more severe in patients with coexisting FMF.

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Section: Discussioncontrasting

confidence: 44%

Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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The Influence of Coexisting Familial Mediterranean Fever on Crohn’s Disease

Kılınçalp

Yüksel

2022

Journal of Clinical Gastroenterology

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“…Most pathogenic MEFV variants are missense substitutions leading to inappropriately elevated or prolonged inflammatory responses, though controversy remains over pathogenicity criteria [76][77][78]. Many studies have proposed a link between MEFV variants and GI inflammation [79][80][81][82][83][84][85][86] -with some identifying FMF patients presenting with GI phenotypes "mistaken" for IBD [87][88][89][90][91][92] and others reporting MEFV variants that may influence risk or contribute to IBD pathogenesis [93][94][95][96][97]. A recent systematic review and meta-analysis found that MEFV mutated alleles were more frequently found in IBD patients vs controls, with Exon 10 variants (like our patient's) having the most severe impact [98].…”

Section: Families Without Definitive Diagnosesmentioning

confidence: 99%

A Next Generation Sequencing (NGS)-based approach to diagnosing Algerian patients with suspected Inborn Errors of Immunity (IEIs)

Peng

Al-Ddafari²,

Caballero-Oteyza³

et al. 2023

Preprint

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The advent of next-generation sequencing (NGS) technologies has greatly expanded our understanding of both the clinical spectra and genetic landscape of inborn errors of immunity (IEIs). As history has shown and recent large-scale studies of monogenic risk for severe COVID have confirmed, endogamous populations may be enriched for unique, ancestry-specific disease-causing variants as a consequence of geography and/or culture. From a diagnostic perspective, this consideration may significantly impact molecular testing and analysis strategies. Herein, we report on the diagnostic yield of a 2-step NGS-based testing approach beginning with targeted gene panels (TGPs) and reflexing to whole exome sequencing (WES) if negative for Northwest Algerian patients with suspected IEIs. A total of fourteen families were screened using TGPs tailored to their IEI subtypes of common variable immunodeficiency (CVID), inflammatory bowel disease (IBD) or chronic mucocutaneous candidiasis (CMC)-hyperIgE syndrome (HIES), resulting in a total of four definitive or highly likely molecular diagnoses (29% yield). Subsequent application of WES to eight of the ten remaining unsolved cases yielded an additional four diagnoses, giving a 57% overall yield. At least two additional individuals were found to harbor suggestive candidate variants on exome warranting further investigation, while others carried candidate variants or known risk alleles likely contributing to their clinical findings. Only in one patient’s case did we fail to identify any viable potential candidates. By achieving diagnostic yields comparable to those currently quoted for application of short-read NGS to IEI detection, our study demonstrates the viability of a 2-step NGS-based testing strategy in a selected endogamous population. Data from our localized cohort also showed some similarities and differences from NGS studies performed on larger regional IEI cohorts. Finally, our results also highlight many short-comings currently inherent to the application of genomics for clinical IEI diagnostics. Not only does the global community need to address ongoing inequities in representation, access, and infrastructure, but the ability to obtain precise and detailed clinical data remains paramount for achieving diagnostic certainty in the face of complex genotype-phenotype relationships.

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Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

Tuna Kırsaçlıoğlu,

Frohne,

Kuloğlu

et al. 2024

J Clin Immunol

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The monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 (RIPK1) protein is an important signalling molecule in inflammation and cell death pathways. Its deficiency may lead to various clinical features linked to immunodeficiency and/or inflammation, including IBD. Here, we discuss an infant with malnutrition, VEO-IBD, recurrent infections and polyathritis who has a homozygous partial deletion in RIPK1 gene.

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Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study

Cited by 8 publications

References 26 publications

The Influence of Coexisting Familial Mediterranean Fever on Crohn’s Disease

The Influence of Coexisting Familial Mediterranean Fever on Crohn’s Disease

A Next Generation Sequencing (NGS)-based approach to diagnosing Algerian patients with suspected Inborn Errors of Immunity (IEIs)

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

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