Familial Mediterranean fever in Jordanian Children: single centre experience

Alzyoud, Raed; Alsweiti, Motasem; Maittah, Hiba; Zreqat, Ehab; Alwahadneh, Adel; Abu-Shukair, Mohammed; Habahbeh, Lana Ayesh; Mutereen, Mohammed

doi:10.31138/mjr.29.4.211

Cited by 9 publications

(8 citation statements)

References 20 publications

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“…Examination of the literature revealed that certain MEFV gene mutations are more common in certain populations. For example, p.M694V is the most frequent mutation in patients from Denmark [27], Germany [28], Turkey [29,30], Armenia [31][32][33], Western European populations including Italy [34,35], Greek [36] and Spain [37], and Middle eastern populations including Lebanon [38,39], Jordan [40,41], Palestine [42] and Syria [43]. In addition, while p.M694I and p.V726A are known to be common among Arab populations in the Middle East [44], p.M680I is common in Turkish FMF patients [29,30].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Alibakhshi

Ghadiri

Khamooshian

et al. 2022

Egypt J Med Hum Genet

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Background Familial Mediterranean fever (FMF), known as a disease with a high prevalence rate among Armenian, Turkish, Jewish, and Arab descent populations, occurs as a result of pathogenic variants in mediterranean fever (MEFV) gene. The aim of this study was to review the spectrum and frequency of MEFV gene mutations reported among Iranian FMF patients. Methods After performing a systematic review of the literature and implementation of inclusion and exclusion criteria, 16 articles published between 2004 and 2020, involving 4,256 Iranian FMF patients, were included. Results A total of 38 different MEFV gene mutations were identified. The most common mutations among Iranian FMF patients were: p.M694V (c.2080A > G) (20.27%), p.E148Q (c.442G > C) (10.27%), p.V726A (c.2177T > C) (8.24%), p.M680I (both c.2040G > C and c.2040G > A) (7.20%), p.R761H (c.2282G > A) (2.1%), and p.M694I (c.2082G > A) (2. 1%). The frequencies of these mutations were significantly different in different parts of the country. Conclusions The ranks and frequencies of p.M694V, p.E148Q, p.V726A, p.M680I, and p.M694I in our population were closer to those observed in the Mediterranean countries, especially in the Middle Eastern Arab populations. Although some comprehensive studies have been performed on Azeri Turkish patients living in northwestern Iran, studies in other areas, especially in eastern Iran, have been very limited. One reason for this observation could be due to the low frequency of FMF patients in those areas. Regardless of the reason for this, the exact spectrum and frequency of MEFV gene mutations in Iranian FMF patients remain unclear. Therefore, comprehensive future studies in different parts of the country are recommended.

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Section: Discussionmentioning

confidence: 99%

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Alibakhshi

Ghadiri

Khamooshian

et al. 2022

Egypt J Med Hum Genet

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“…However, more than a half of them had a family origin from the eastern provinces, pointing to the migration routes of mutations and disease [19,35,36]. The similarity between MEFV mutations present in Turks and Jordanians can also be explained by the local migrations, during the Ottoman Empire [20,37]. The M694V mutation is the most common in Arab FMF patients.…”

Section: Diversity Of Mefv Mutationsmentioning

confidence: 99%

Adaptation to Mediterranea

Milenković¹,

Stojanović²,

Najdanović³

2021

Genetic Variation

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The Mediterranean region encompasses countries that surround Mediterranean Sea. Due to its position at the intersection of Eurasia and Africa it has often been a route of human migrations during history, which contributed to its high biodiversity. People living in this area had been exposed to the episodes of natural selection that led to the establishment of specific genetic variations, for which is thought to carry a certain adaptation. Some recent studies have shown that genetic adaptations are probably related to the immune defense against infectious pathogens. One of the most recognizable disease of the region is familial Mediterranean fever (FMF), a prototype of a monogenic autoinflammatory disease. FMF is predisposed by the mutations in the Mediterranean fever (MEFV) gene that encodes inflammasome regulatory protein - pyrin. Specific variations of several other genes have been proposed to confer a protection against Plasmodium malariae parasite. Some of these are hemoglobin S (HbS), thalassemia, glucose-6-phosphate dehydrogenase deficiency, ovalocytosis, and mutation in the Duffy antigen (FY). In this chapter we will summarize important genetics and pathogenesis features of diseases commonly encountered in the Mediterranean region with a short discussion of potential adaptations that they may carry.

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“…Familial Mediterranean fever (FMF), secondary immunode ciencies, non-Jordanian patients, and patients above 14 years old at diagnosis were excluded from this study. FMF was excluded from diminishing IEI category biased distribution; almost all suspected FMF patients in Jordan are tested for 12 mutations of the MEFV gene, which is affordable at primary and secondary healthcare facilities across the country; the detailed FMF pediatric data has been previously published [12,13].…”

Section: Introductionmentioning

confidence: 99%

Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center

Alzyoud,

Alsuweiti,

Maaitah

et al. 2024

J Clin Immunol

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Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. Without the IEI national registry, this study has been conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children. MethodsRetrospective data analysis for IEI children diagnosed and followed in Immunology, Allergy, and Rheumatology Division Queen Rania Children's Hospital, the only pediatric hospital in Jordan from 2010 till the end of 2022. ResultsA total of 467 patients, 263 (56.3%) males and 204 (43.7%) females, were diagnosed with IEI. The prevalence of IEI was 16.2/100,000 Jordanian children. The mean age at symptom onset was 18 months (1 week to 144 months), a positive family history was reported in 43.5%, and the consanguinity rate was 47.9%. The most common IEI category was immunode ciencies affecting cellular and humoral immunity at 33.2%, followed by predominantly antibody de ciencies (PAD) at 16.9%. The overall IEI diagnostic delay mean (range) was 12.6 (0-135) months. Pulmonary and gastrointestinal clinical features were the most common at 55.2% and 45.6%, respectively; the majority were infection-related. The overall mortality was 33.2%; the highest rate was reported in severe combined immunode ciency (SCID) at 56.2% ConclusionsThe high minimal estimated IEI prevalence at 16.2/100,000 Jordanian children compared to the regional and worldwide data, with the diversities in clinical presentation and distribution of IEI categories in our cohort point to unique features of IEI in Jordanian children, heeding national registry establishment, regional and international collaborative networks.Jordan is an Arab country in the Levant Region of Western Asia, on the East Bank of the Jordan River. Based on the Department of Statistics 2022 data bank, Jordan inhabitants are 11.3 million, 2.9 million are noncitizens (refugees and immigrants), 94% of the Jordanians are Arabs, and the pediatric age group 0-14 years accounts for 34.4% of the population [9]. Consanguineous marriage is widely practiced in Jordan, resembling other Arab communities; even though it has declined from 57-35% over two decades [10], it is still high enough to engender monogenic diseases like IEI. Till now, there is no national IEI registry in Jordan to facilitate epidemiological and clinical data collection and analysis; for this reason, we established a hospital-based database by the Immunology, Allergy, and Rheumatology Division (the only dedicated unit for IEI in the country) at Queen Rania Children's Hospital where all IEI patients had registered since 2010. This study is the rst comprehensive report in Jordan that describes the epidemiology, clinical presentations, treatment, and outcome of Jordanian children with IEI and compares the data to published IEI reports in the region. The previously published PID data in Jordan were either case reports, series, or, within collaborative regional projects, the PAD category in Jordanian children published in 2014 [11]. Methods Patients and ...

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Familial Mediterranean fever in Jordanian Children: single centre experience

Cited by 9 publications

References 20 publications

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review

Adaptation to Mediterranea

Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center

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