NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome

Çelebi, Damla; Yıldız, Mehmet; Şahin, Sezgin; Haşlak, Fatih; Günalp, Aybüke; Adroviç, Amra; Barut, Kenan; Günver, Mehmet Güven; Kasapçopur, Özgür; Daşdemir, Selçuk

doi:10.1007/s10067-022-06370-1

Cited by 4 publications

(4 citation statements)

References 35 publications

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“…In our study, MEFV variants were detected in 21 PFAPA patients, 3 FMF patients and 9 other PFS patients. This is similar to a previous study that found MEFV variants in 32.5% of PFAPA patients [22] . Mehmet et al showed that most PFAPA patients have heterozygous MEFV gene mutations [22] .…”

Section: Laboratory Outcomessupporting

confidence: 93%

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Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

Chen,

Li,

Yang

et al. 2024

Preprint

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Objective: Periodic fever syndromes (PFS) are a broad group of autoinflammatory diseases characterised by recurrent episodes of fever in the absence of microbial, autoimmune or malignant conditions. We aimed to evaluate the clinical and genetic characteristics of patients with periodic fever syndrome. And to evaluate the safety and efficacy of colchicine in the treatment of PFS. Methods: This study included patients diagnosed with PFS between April 2021 and January 2024 at Bei Jing Children's Hospital, Immunology Department. We retrospectively analyzed the clinical data (clinical features, laboratory findings and genetic features). The onset of the disease and adverse events following the use of colchicine were also analysed. Results: A total of 130 patients were included in this study, with a male to female ratio of 1.2:1. The mean (95% CI) ages at symptom onset and diagnosis were 3.59(3.06-4.11) years and 5.33(4.79-5.87) years, respectively. The average duration of the febrile episode is 3.92 days and the average frequency of the febrile episode is 3.44 weeks. During PFS flares, leukocytes, neutrophils, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were significantly higher than in inter-episode periods. The most frequently detected gene mutation is MEFV. Thirty-five patients were free of clinical symptoms 5 month after taking colchicine. Conclusion: We present a cohort of children and adolescence with periodic fever syndrome. The most common PFS is PFAPA and the most common gene mutation in PFS patients is MEFV. Colchicine is a safe and effective drug for the treatment of PFS.

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Section: Laboratory Outcomessupporting

confidence: 93%

“…This is similar to a previous study that found MEFV variants in 32.5% of PFAPA patients [22] . Mehmet et al showed that most PFAPA patients have heterozygous MEFV gene mutations [22] . MEFV mutations are also found in FMF patients, in some studies from Turkey, about 20% of general population in Turkey is carrier of a MEFV mutation.…”

Section: Laboratory Outcomessupporting

confidence: 93%

Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

Chen,

Li,

Yang

et al. 2024

Preprint

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“…But this mutation was insignificant 36 . In a study, Kaynak et al looked at the NLRP3 polymorphism and serum levels of individuals with PFAPA and discovered no significant difference between the PFAPA patients and the control group 27 . Ünsal et al also studied NLRP3 gene analysis in 14 patients with PFAPA and did not detect any mutations 30 .…”

Section: Relationship Of Nlrp3 Gene and Pfapamentioning

confidence: 99%

Periodic Fever, Aphthous Stomatitis, Pharyngitis, (Pfapa) Syndrome and Nlrp3 Gene Association

ÜNSAL

2023

CMJ

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PFAPA syndrome, which also includes aphthous stomatitis, pharyngitis, and adenitis, is the most common type of recurrent fever in children. Usually happens before the age of five. This syndrome is characterized by attacks lasting 3-7 days, recurring every 2-8 weeks with high fever (39 C and above) accompanied by at least one of the signs of aphthous stomatitis, pharyngitis, and/or cervical adenitis. Between attacks, the child is completely healthy.PFAPA is a benign disease that regresses with age. Steroids are used in the treatment of attacks. Colchicine is often preferred in prophylactic treatment. However, if there is no response to medical treatment, surgery (tonsillectomy) can be performed. Genetic and environmental factors are considered in the etiology. Genetic susceptibility concentrated on the genes for Familiar Mediterranean Fever (FMF, MEFV), TNF-Receptor-Associated Periodic Syndrome (TRAPS, gene TNFRF1A), HyperIgDSyndrome (HIDS, gene MVK), and Cryopyrin-Associated Periodic Syndrome (CAPS, gene NLRP3). But its etiology is still unknown.

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“…3,4 Previously demonstrated risk mutations for PFAPA included those associated with inflammasome and immune dysregulation, such as NLRP3, CARD8, IL-12A, STAT4, IL10, and CCR1-CCR3. [5][6][7][8][9][10][11][12] HLA (human leukocyte antigen) alleles were also suggested as risk factors for PFAPA, 11 which further implies a possible role played by microbial organisms. This was further supported by studies showing altered tonsillar microbial population between PFAPA and control subjects.…”

mentioning

confidence: 98%

Altered serum antibody levels in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis

Gazi,

Dalkan,

Sanlidag

et al. 2023

Arch Rheumatol

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Objectives: This study aimed to extend the literature by analyzing immunoglobulin (Ig) A, IgE, IgG, IgG2, IgG3, and IgM antibody levels in periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) patients. Patients and methods: This study retrospectively analyzed the antibody test results of 20 pediatric patients (10 males, 10 females; mean age: 2.5±1.5 years; range, 0.5 to 5.4 years) with and without flare who were initially evaluated for a number of underlying diseases due to periodic fever/infectious symptoms but then diagnosed with PFAPA between January 2015 and December 2020. Antibody levels were determined by chemiluminescence microparticle immunoassay. The results were retrospectively compared with a group of healthy children after the PFAPA diagnosis was confirmed. Results: The chemiluminescence microparticle immunoassay revealed 35%, 65%, 20%, 86.6%, and 55% of PFAPA cases with low serum levels of IgA, IgG, IgG2, IgG3, and IgM respectively, while 56.2% had high IgE levels. Moreover, low serum levels of at least two antibody classes or subclasses were reported in 80% of the PFAPA children. While cases with low IgG serum levels were with the highest incidence rates among the low IgG3 PFAPA patient population, both high IgE and low IgM cases were common in the rest of the patients. Conclusion: Our results suggest an association between PFAPA and low serum antibody levels, particularly of IgG3. Future studies are needed to confirm our conclusion.

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NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome

Cited by 4 publications

References 35 publications

Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

Periodic fever syndromes in Chinese children and adolescents: a single-centre cohort study

Periodic Fever, Aphthous Stomatitis, Pharyngitis, (Pfapa) Syndrome and Nlrp3 Gene Association

Altered serum antibody levels in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis

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