Journals / Turkish archives of pediatrics (Online) / 2022 / Cilt: 57 - Sayı: 1

Rare Autoinflammatory Diseases

Pages
18–25
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We focused on the actinopathies, interferonopathies, and NF-κB-mediated autoinflammatory diseases.

📌 3 Key Takeaways

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Objective & Hypothesis:Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation.
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Key Findings & Data:Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to identifying more genes causing autoinflammatory conditions affecting different parts of the innate immune system.
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Conclusion & Impact:We focused on the actinopathies, interferonopathies, and NF-κB-mediated autoinflammatory diseases.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to identifying more genes causing autoinflammatory conditions affecting different parts of the innate immune system. The aim of this review is to provide an update on some recently discovered autoinflammatory conditions and raise awareness for the clinicians. We focused on the actinopathies, interferonopathies, and NF-κB-mediated autoinflammatory diseases.

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Cite This Article

BAŞARAN, Ö., BİLGİNER, Y., ÖZEN, S. (2022). Rare Autoinflammatory Diseases. Turkish archives of pediatrics (Online), Cilt: 57 - Sayı: 1, 18–25. https://ajindex.com/articles/414177

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References (14)

  1. Kuhns DB, Fink DL, Choi U, et al. Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. Blood. 2016
  2. 128(17):2135- 2143. [CrossRef] 2. Savic S, Caseley EA, McDermott MF. Moving towards a systemsbased classification of innate immune-mediated diseases. Nat Rev Rheumatol. 2020
  3. 16(4):222-237. [CrossRef] 3. Papa R, Penco F, Volpi S, Gattorno M. Actin remodeling defects leading to autoinflammation and immune dysregulation. Front Immunol. 2020
  4. 604206. [CrossRef] 4. Tangye SG, Bucciol G, Casas-Martin J, et al. Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP. Immunol Cell Biol. 2019
  5. 97(4):389-402. [CrossRef] 5. Janssen E, Geha RS. Primary immunodeficiencies caused by mutations in actin regulatory proteins. Immunol Rev. 2019
  6. 287(1):121-134. [CrossRef] 6. Standing AS, Malinova D, Hong Y, et al. Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. J Exp Med. 2017
  7. 214(1):59- 71. [CrossRef] 7. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017
  8. 18(8):832-842. [CrossRef] 8. Maridonneau-Parini I. Podosomes are disrupted in PAPA syndrome. Blood. 2014
  9. 123(17):2597-2599. [CrossRef] 9. Okada K, Obinata T, Abe H. XAIP1: a Xenopus homologue of yeast actin interacting protein 1 (AIP1), which induces disassembly of actin filaments cooperatively with ADF/cofilin family proteins. J Cell Sci. 1999
  10. 112(10):1553-1565. [CrossRef] 10. Kim ML, Chae JJ, Park YH, et al. Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1beta. J Exp Med. 2015
  11. 212(6):927- 938. [CrossRef] 11. Pfajfer L, Mair NK, Jiménez-Heredia R, et al. Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity. J Allergy Clin Immunol. 2018
  12. 142(5):1589- 1604.e11. [CrossRef] 12. Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V. Systemic autoinflammatory diseases: clinical state of the art. Best Pract Res Clin Rheumatol. 2020
  13. 34(4):101529. [CrossRef] 13. Kuijpers TW, Tool ATJ, van der Bijl I, et al. Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2017
  14. 140(1):273-277.e10. [CrossRef] 14. Kahr WH, Pluthero FG, Elkadri A, et al. Loss of the Arp2/3 comple