Response to: ‘Correspondence on ‘Anti-inflammatory therapy for COVID-19 infection: the case for colchicine’’ by Perricone<i>et al</i>

Shah, Binita; Reyes, Aaron; Hu, Kelly A; Teperman, Jacob; Muskardin, Theresa Wampler; Tardif, Jean‐Claude; Pillinger, Michael H.

doi:10.1136/annrheumdis-2021-219898

Cited by 2 publications

(1 citation statement)

References 7 publications

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“…Theoretically, colchicine could reduce the hospitalization and mortality of COVID-19 by targeting intersecting pathways in the SARS-CoV-2-induced in ammatory cascade [17]. There is limited information on COVID-19 outcomes in FMF patients [18].…”

Section: Discussionmentioning

confidence: 99%

Covid-19 Progress in Patients With Familial Mediterranean Fever

Demir

Karahan

2023

Preprint

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Background Familial Mediterranean Fever (FMF) is a genetic auto-inflammatory disease. Mutations in the MEFV gene cause inappropriate immune system triggering, leading to inflammatory episodes in the peritoneum, pleura, and joints. In the severe COVID-19 picture, the hyperimmune response and inflammatory process develop and the clinic worsens. The FMF disease, the drugs used for its treatment, and the situation that different genetic mutations will display in the course of COVID-19 arouse interest. Methods In this study, common and different points in COVID-19 follow-up processes were evaluated by online questionnaire method according to different gene mutations in 158 FMF patients who had gene analysis. Participants were asked 21 questions and the data provided were compared between FMF MEFV gene mutations Results 104 out of 158 cases did not get COVID-19. 8 of 54 cases who get COVID-19 were hospitalized. No statistically significant difference was found between gene mutations when evaluated and compared in terms of susceptibility to COVID-19, vaccination status and presence of additional chronic diseases. Conclusion The present study provides guidance on the role of FMF genetic mutations in the course of COVID-19. Our study may suggest that FMF MEFV gene mutations do not have a protective role against COVID-19. The results also suggest that, as an inverse effect, MEFV gene mutations do not increase the risk of hyper-immune response and SARS, which play a role in the severe course of COVID-19.

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Section: Discussionmentioning

confidence: 99%

Covid-19 Progress in Patients With Familial Mediterranean Fever

Demir

Karahan

2023

Preprint

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Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms

Jyonouchi

2023

J Transl Genet Genom

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Autism spectrum disorder (ASD) is a behaviorally defined syndrome affected by multiple genetic and environmental factors. A wide variety of risk factors for ASD have been identified and many of these affect immune functions. This may not be surprising, since the immune system and the nervous system share common signaling mechanisms and affect each other as a part of the neuroimmune network. The ever-expanding scope of inborn errors of immunity (IEIs) has revealed multiple pathogenic gene variants that manifest overlapping clinical features of common neuropsychiatric diseases, including ASD. These IEIs often cause dysregulated immune activation and resultant chronic inflammation affecting multiple organs. Some IEIs also cause changes in morphogenesis and plasticity of the central nervous system. Such patients often present with a puzzling array of clinical features and some of them may be diagnosed with ASD or other neuropsychiatric conditions. The progress of our understanding of disease mechanisms for IEIs at the molecular levels has led to gene-specific treatment measures in some diseases. In addition, some ASD patients are found to have laboratory findings of neuroinflammation that resemble those seen in IEI patients. This may pave the way for applying specific treatment measures used for IEI patients in such ASD patients. This review focuses on describing IEIs that have overlapping features of ASD. Emphasis is also on IEIs that can be treated by targeting identified disease mechanisms. Such information may be helpful for clinicians who are considering genetic/metabolic workup in ASD patients.

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Response to: ‘Correspondence on ‘Anti-inflammatory therapy for COVID-19 infection: the case for colchicine’’ by Perriconeet al

Cited by 2 publications

References 7 publications

Covid-19 Progress in Patients With Familial Mediterranean Fever

Covid-19 Progress in Patients With Familial Mediterranean Fever

Inborn errors of immunity present with neuropsychiatric symptoms overlapping with autistic behavioral symptoms

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