A familial Mediterranean fever girl due to <i>MEFV</i> N679H mutation with Gilbert’s syndrome

Fujimaki, Yuki; Soutome, Takehiko; Tanaka, Takayuki; Shiba, Takeshi; Watanabe, Misa

doi:10.1111/ped.14526

Cited by 1 publication

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“…After confirming that macrophages derived from patients' iPSCs (PSC-MPs) recapitulate the phenotype of FMF MDMs, we evaluated two rare MEFV variants, T577N and N679H, identified in two families in which autoinflammatory disease with dominant inheritance was suspected (95,96). No T577N patients met the Tel-Hashomer criteria, whereas two N679H patients fulfilled the criteria (97).…”

Section: Functional Evaluation Of the Pathological Significance Of Me...mentioning

confidence: 99%

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases

et al. 2022

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The concept of autoinflammation, first proposed in 1999, refers to a seemingly unprovoked episode of sterile inflammation manifesting as unexplained fever, skin rashes, and arthralgia. Autoinflammatory diseases are caused mainly by hereditary abnormalities of innate immunity, without the production of autoantibodies or autoreactive T cells. The revolutionary discovery of induced pluripotent stem cells (iPSCs), whereby a patient’s somatic cells can be reprogrammed into an embryonic pluripotent state by forced expression of a defined set of transcription factors, has the transformative potential to enable in vitro disease modeling and drug candidate screening, as well as to provide a resource for cell replacement therapy. Recent reports demonstrate that recapitulating a disease phenotype in vitro is feasible for numerous monogenic diseases, including autoinflammatory diseases. In this review, we provide a comprehensive overview of current advances in research into autoinflammatory diseases involving iPSC-derived monocytes/macrophages. This review may aid in the planning of new studies of autoinflammatory diseases.

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Section: Functional Evaluation Of the Pathological Significance Of Me...mentioning

confidence: 99%

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases

et al. 2022

Self Cite

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A familial Mediterranean fever girl due to MEFV N679H mutation with Gilbert’s syndrome

Abstract: for providing supporting care to the patient and revising the manuscript.

Cited by 1 publication

References 4 publications

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases

Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases

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