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Journal articles on the topic 'Autoinflammatory syndromes'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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1

Esedov, E. M., F. D. Akhmedova, D. S. Akbieva, and A. S. Abasova. "Autoinflammatory diseases as a new disease class (literature review and own observations)." Terapevt (General Physician), no. 8 (August 12, 2023): 48–63. http://dx.doi.org/10.33920/med-12-2308-06.

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The article presents the data on clinical manifestations, diagnosis, and treatment of hereditary autoinflammatory syndromes, as well as describes three clinical cases of patients with autoinflammato ry diseases: two types of Still's syndrome and familial Mediterranean fever (periodic illness).

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2

Meier‐Schiesser, Barbara, and Lars E. French. "Autoinflammatory syndromes." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 19, no. 3 (2021): 400–426. http://dx.doi.org/10.1111/ddg.14332.

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3

Georgin-Lavialle, Sophie, Lea Savey, and Gilles Grateau. "Autoinflammatory syndromes." La Presse Médicale 48, no. 1 (2019): e21-e23. http://dx.doi.org/10.1016/j.lpm.2018.12.005.

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4

Hashkes, Philip J., and Ori Toker. "Autoinflammatory Syndromes." Pediatric Clinics of North America 59, no. 2 (2012): 447–70. http://dx.doi.org/10.1016/j.pcl.2012.03.005.

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5

Cush, John J. "Autoinflammatory Syndromes." Dermatologic Clinics 31, no. 3 (2013): 471–80. http://dx.doi.org/10.1016/j.det.2013.05.001.

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6

Vineetha, Mary, Seena Palakkal, Lissy Skaria, Naveena Jose, Dhiya Philomina, and Anila Nithin. "Autoinflammatory syndromes: A review." Journal of Skin and Sexually Transmitted Diseases 2 (April 17, 2020): 5–12. http://dx.doi.org/10.25259/jsstd_24_2019.

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Autoinflammatory syndromes (AIS) are disorders of innate immunity which present with recurrent episodes of fever and skin lesions, such as urticaria, pustules, maculopapular rash, oral ulcers, generalized pustular psoriasis, or pyoderma gangrenosum-like lesions. The different entities that come under AIS are familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, hyperimmunoglobulinemia D with periodic fever syndrome, and cryopyrin-associated periodic syndromes. Many new entities are also described. As many of them present with skin lesions, dermatologists sh

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7

Rood, Julia E., and Edward M. Behrens. "Inherited Autoinflammatory Syndromes." Annual Review of Pathology: Mechanisms of Disease 17, no. 1 (2022): 227–49. http://dx.doi.org/10.1146/annurev-pathmechdis-030121-041528.

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Autoinflammation describes a collection of diverse diseases caused by indiscriminate activation of the immune system in an antigen-independent manner. The rapid advancement of genetic diagnostics has allowed for the identification of a wide array of monogenic causes of autoinflammation. While the clinical picture of these syndromes is diverse, it is possible to thematically group many of these diseases under broad categories that provide insight into the mechanisms of disease and therapeutic possibilities. This review covers archetypical examples of inherited autoinflammatory diseases in five

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8

McDermott, Michael F., and Ivona Aksentijevich. "The autoinflammatory syndromes." Current Opinion in Allergy and Clinical Immunology 2, no. 6 (2002): 511–16. http://dx.doi.org/10.1097/00130832-200212000-00006.

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9

Kacar, Mark, Shelly Pathak, and Sinisa Savic. "Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome." Rheumatology 58, Supplement_6 (2019): vi31—vi43. http://dx.doi.org/10.1093/rheumatology/kez448.

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Abstract The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were

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10

Matos, Thais Cunha, Maria Teresa Ramos Ascensão Terreri, Daniela Gerent Petry, Cássia Maria Barbosa, Claudio Arnaldo Len, and Maria Odete Esteves Hilário. "Autoinflammatory syndromes: report on three cases." Sao Paulo Medical Journal 127, no. 5 (2009): 314–16. http://dx.doi.org/10.1590/s1516-31802009000500012.

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CONTEXT: Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs. There is no production of autoantibodies, but interleukins play an important role and acute-phase reactants show abnormalities. Our aim was to report on three cases of autoinflammatory syndromes that are considered to be rare entities. CASE REPORTS: The authors describe the clinical features of three patients whose diagnosis were the following: tumor necrosis factor receptor-associated periodic syndrome (TRAPS), chronic infantile neurological cutaneous articular (CINC

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11

Jesus, Adriana Almeida, João Bosco Oliveira, Maria Odete Esteves Hilário, et al. "Pediatric hereditary autoinflammatory syndromes." Jornal de Pediatria 86, no. 5 (2010): 353–66. http://dx.doi.org/10.2223/jped.2015.

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12

Gattorno, Marco, and Alberto Martini. "Treatment of autoinflammatory syndromes." Current Opinion in Pediatrics 22, no. 6 (2010): 771–78. http://dx.doi.org/10.1097/mop.0b013e3283404598.

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13

Fair, Danielle, and James Verbsky. "Update on Autoinflammatory Syndromes." Current Treatment Options in Rheumatology 4, no. 1 (2018): 73–84. http://dx.doi.org/10.1007/s40674-018-0093-3.

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14

Hoffman, Hal M. "Therapy of autoinflammatory syndromes." Journal of Allergy and Clinical Immunology 124, no. 6 (2009): 1129–38. http://dx.doi.org/10.1016/j.jaci.2009.11.001.

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15

Antón-Vázquez, Vanesa, Elena Güell Farré, Cristina Cortes, Jonathan S. Hausmann, and Hèctor Corominas. "Adult-Onset Autoinflammatory Syndromes." JCR: Journal of Clinical Rheumatology 26, no. 4 (2020): 160–63. http://dx.doi.org/10.1097/rhu.0000000000000956.

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16

Chitkara, Puja, Silvia Stojanov, and Daniel L. Kastner. "The Hereditary Autoinflammatory Syndromes." Pediatric Infectious Disease Journal 26, no. 4 (2007): 353–54. http://dx.doi.org/10.1097/01.inf.0000258777.86510.da.

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17

Obici, Laura, and Giampaolo Merlini. "Amyloidosis in autoinflammatory syndromes." Autoimmunity Reviews 12, no. 1 (2012): 14–17. http://dx.doi.org/10.1016/j.autrev.2012.07.016.

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18

Pepper, Ruth J., and Helen J. Lachmann. "Autoinflammatory Syndromes in Children." Indian Journal of Pediatrics 83, no. 3 (2016): 242–47. http://dx.doi.org/10.1007/s12098-015-1985-y.

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19

Simon, Anna, and Jos W. M. van der Meer. "Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 292, no. 1 (2007): R86—R98. http://dx.doi.org/10.1152/ajpregu.00504.2006.

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Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial periodic fever syndromes has been unraveled, and through research into the pathophysiology, a clearer picture of the innate immune system is emerging. After an introduction on fever, interleukin-1β and inflam

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20

Diprose, William K., Anthony Jordan, and Neil E. Anderson. "Autoinflammatory syndromes in neurology: when our first line of defence misbehaves." Practical Neurology 22, no. 2 (2021): 145–53. http://dx.doi.org/10.1136/practneurol-2021-003031.

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Autoinflammatory syndromes result from a defective innate immune system. They are characterised by unexplained fever and systemic inflammation involving the skin, muscle, joints, serosa and eyes, along with elevated acute phase reactants. Autoinflammatory syndromes are increasingly recognised as a cause of neurological disease with a diverse range of manifestations. Corticosteroids, colchicine and targeted therapies are effective if started early, and hence the importance of recognising these syndromes. Here, we review the neurological features of specific autoinflammatory syndromes and our ap

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21

Zatolokina, A. O., S. A. Loskutova, T. V. Belousova, N. E. Blagitko, and I. G. Grinberg. "AUTO-INFLAMMATORY SYNDROMES IN DOCTOR'S PRACTICE ON THE EXAMPLE OF A FAMILY CASE OF MUKCLE-WELLS SYNDROME." Sibirskij medicinskij vestnik 7, no. 2 (2023): 41–47. http://dx.doi.org/10.31549/2541-8289-2023-7-2-41-47.

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Introduction. In parallel with the development of modern molecular genetic diagnostics, the frequency of diagnosing rare (orphan) syndromes in patients is increasing. Previously described clinical cases with a combination of certain syndromes, at the present stage are transformed into a genetically confirmed clinical diagnosis with the possibility of using targeted pathogenetically determined therapy. Muckle-Wells syndrome (MWS) is an autoinflammatory disease belonging to the group of Сryopyrin-Associated Periodic Syndrome (CAPS) which has an unfavorable outcome if left untreated. Aim. To demo

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22

Borges, Tiago, João Santos, and Sérgio Silva. "Sterile osteomyelitis: a cardinal sign of autoinflammation." Rheumatology 62, no. 6 (2024): 475–88. https://doi.org/10.5114/reum/196595.

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Autoinflammatory bone disorders (ABDs) are characterized by sterile bone inflammation stemming from dysregulated innate immune responses. This review focuses on the occurrence of sterile osteomyelitis in ABDs and related diseases, notably chronic nonbacterial osteomyelitis (CNO) and its sporadic and monogenic forms, such as deficiency of the interleukin-1 (IL-1) receptor antagonist, Majeed syndrome, CNO related to FBLIM1 mutation, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). Additionally, other autoinflammatory disorders (AIDs) are discussed, including classical per

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23

De Sanctis, Sara, Manuela Nozzi, Marianna Del Torto, et al. "Autoinflammatory syndromes: diagnosis and management." Italian Journal of Pediatrics 36, no. 1 (2010): 57. http://dx.doi.org/10.1186/1824-7288-36-57.

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24

Braun-Falco, Markus, and Thomas Ruzicka. "Skin manifestations in autoinflammatory syndromes." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 9, no. 3 (2010): 232–45. http://dx.doi.org/10.1111/j.1610-0387.2010.07580.x.

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25

Broderick, Lori, Dominic De Nardo, Bernardo S. Franklin, Hal M. Hoffman, and Eicke Latz. "The Inflammasomes and Autoinflammatory Syndromes." Annual Review of Pathology: Mechanisms of Disease 10, no. 1 (2015): 395–424. http://dx.doi.org/10.1146/annurev-pathol-012414-040431.

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26

Galon, Jérôme, Ivona Aksentijevich, Michael F. McDermott, John J. O’Shea, and Daniel L. Kastner. "TNFRSF1A mutations and autoinflammatory syndromes." Current Opinion in Immunology 12, no. 4 (2000): 479–86. http://dx.doi.org/10.1016/s0952-7915(00)00124-2.

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27

Caorsi, Roberta, Silvia Federici, and Marco Gattorno. "Biologic drugs in autoinflammatory syndromes." Autoimmunity Reviews 12, no. 1 (2012): 81–86. http://dx.doi.org/10.1016/j.autrev.2012.07.027.

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28

Dávila-Seijo, Paula, Angela Hernández-Martín, and Antonio Torrelo. "Autoinflammatory syndromes for the dermatologist." Clinics in Dermatology 32, no. 4 (2014): 488–501. http://dx.doi.org/10.1016/j.clindermatol.2014.02.004.

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29

BODAGHI, B. "An introduction to autoinflammatory syndromes." Acta Ophthalmologica 88 (September 2010): 0. http://dx.doi.org/10.1111/j.1755-3768.2010.4252.x.

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30

Gönül, Müzeyyen, Bengu Cevirgen Cemil, Havva Ozge Keseroglu, and Havva Kaya Akis. "New Described Dermatological Disorders." BioMed Research International 2014 (2014): 1–13. http://dx.doi.org/10.1155/2014/616973.

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Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are “circumferential skin creases Kunze type” and “unusual type of pachyonychia congenita or a new syndrome”; autoinflammatory diseases include “chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome,” “pyoderma gangrenosum, acne, and

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31

Michailou, Maria, and Chryssoula Perdikogianni. "Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update." Children 12, no. 4 (2025): 446. https://doi.org/10.3390/children12040446.

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Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of unknown genetic etiology typically characterized by recurrent fever episodes, pharyngitis, aphthous stomatitis and cervical lymphadenitis. The syndrome runs a benign course with fever episodes recurring in regular intervals and usually resolves around adolescence, even though, for a subset of patients, it persists through adulthood. It is considered a condition of multifactorial etiology, a syndrome that is triggered by environmental factors in genetically predisposed individuals.

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32

Yeloyeva, Z.V., L.P. Kiselyova, T.O. Filonova, et al. "Autoimmune rheumatic diseases and autoinflammatory syndromes, facets of contact." Annals of Mechnikov Institute, no. 4 (December 21, 2020): 21–30. https://doi.org/10.5281/zenodo.4382141.

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The peculiarity of the development of inflammation, its acute and chronic course, various combinations of inflammatory mediators, the nature and severity of the immune response is largely arise from the genetic characteristics of the organism. It would be logical to assume the key role of small mutations of genes in initiating the development of autoaggression, activation of signaling molecules, immunocompetent cells with violation of their cooperation, production of pro-inflammatory cytokines, as a consequence of the effect of persistent viral-bacterial infection and non-infectious agents. In

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33

Schutt, Christina, and David M. Siegel. "Autoinflammatory Diseases/Periodic Fevers." Pediatrics in Review 44, no. 9 (2023): 481–90. http://dx.doi.org/10.1542/pir.2022-005635.

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Children with intermittent fevers present to pediatricians and other primary care child health providers for evaluation. Most patients will have self-limited, benign infectious illnesses. However, the possibility of a periodic fever syndrome should be considered if febrile episodes become recurrent over an extended period and are associated with particular signs and symptoms during each attack. This review discusses the current conceptualization of autoinflammatory diseases with specific focus and detail on familial Mediterranean fever; tumor necrosis factor receptor–associated periodic syndro

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34

Beketova, T. V., M. F. Beketova, and E. L. Nasonov. "Monogenic autoinflammatory syndromes with features of systemic vasculitis: a new field of rheumatology." Rheumatology Science and Practice 61, no. 4 (2023): 458–65. http://dx.doi.org/10.47360/1995-4484-2023-458-465.

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The article is dedicated to a new actual problem in rheumatology: vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes in adult. The features of the clinical course of the rarely diagnosed VEXAS syndrome, as well as the SAVI and COPA syndromes, which sometimes occur in adults, are considered. Promising directions of future treatment are discussed.

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35

Tolstykh, Aleksandra V., Larisa Y. Popova, Akmer A. Albakasova, and Natalia N. Usenkova. "Autoinflammatory undifferentiated syndrome." Russian Journal of Immunology 26, no. 1 (2022): 87–94. http://dx.doi.org/10.46235/1028-7221-1100-aus.

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Identification of primary immunodeficiencies (PID), distinction of their nosological forms and timely admoinistered therapy for this disorders frepresent topical problems of modern immunology. According to the PID registry of the National Association of Experts in the Field of Primary Immunodeficiencies (NAEPID), as of 2021, 3617 cases of this disease were diagnosed in Russian Federation (RF). The prevalence of PID in Russian Federation is 2.48 per 100,000 population. Currently, autoinflammatory syndromes (AIS) comprise rare, genetically determined disorders. According to the NAEPID registry d

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36

Yasutomo, Koji. "Dysregulation of immunoproteasomes in autoinflammatory syndromes." International Immunology 31, no. 10 (2018): 631–37. http://dx.doi.org/10.1093/intimm/dxy059.

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Abstract Immunoproteasomes degrade ubiquitin-coupled proteins and play a role in creating peptides for presentation by MHC class I proteins. Studies of gene-deficient mice, in which each immunoproteasomal subunit was affected, have demonstrated that dysfunction of immunoproteasomes leads to immunodeficiency, i.e. reduced expression of MHC class I and attenuation of CD8 T-cell responses. Recent studies, however, have uncovered a new type of autoinflammatory syndrome characterized by fever, nodular erythema and progressive partial lipodystrophy that is caused by genetic mutations in immunoprotea

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37

Tarabishy, Ahmad Bakir, Amy G. Hise, and Elias I. Traboulsi. "Ocular manifestations of the autoinflammatory syndromes." Ophthalmic Genetics 33, no. 4 (2012): 179–86. http://dx.doi.org/10.3109/13816810.2012.695421.

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38

KOBAYASHI, Shigeto. "Hereditary Periodic Fever Syndromes: Autoinflammatory Diseases." Internal Medicine 44, no. 7 (2005): 694–95. http://dx.doi.org/10.2169/internalmedicine.44.694.

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39

Bader-Meunier, Brigitte, Erika Van Nieuwenhove, Sylvain Breton, and Carine Wouters. "Bone involvement in monogenic autoinflammatory syndromes." Rheumatology 57, no. 4 (2017): 606–18. http://dx.doi.org/10.1093/rheumatology/kex306.

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40

KANAZAWA, Nobuo, and Fukumi FURUKAWA. "Autoinflammatory syndromes with a dermatological perspective." Journal of Dermatology 34, no. 9 (2007): 601–18. http://dx.doi.org/10.1111/j.1346-8138.2007.00342.x.

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41

Jesus, Adriana A., and Raphaela Goldbach-Mansky. "IL-1 Blockade in Autoinflammatory Syndromes." Annual Review of Medicine 65, no. 1 (2014): 223–44. http://dx.doi.org/10.1146/annurev-med-061512-150641.

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42

Abramovits, William, and Marcial Oquendo. "Introduction to Autoinflammatory Syndromes and Diseases." Dermatologic Clinics 31, no. 3 (2013): 363–85. http://dx.doi.org/10.1016/j.det.2013.04.010.

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43

Abramovits, William. "Autoinflammatory Diseases and Syndromes in Dermatology." Dermatologic Clinics 31, no. 3 (2013): xi. http://dx.doi.org/10.1016/j.det.2013.05.002.

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44

Schinold, Michael, and Sarah Oberholtzer. "A Case of Familial Cold Autoinflammatory Syndrome Type 2." Journal of Rheumatology 52, Suppl 2 (2025): 84.2–84. https://doi.org/10.3899/jrheum.2025-0314.83.

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BackgroundSystemic rheumatic diseases exist along a spectrum of autoimmune and autoinflammatory disorders. Autoinflammatory diseases (AID) result from errors of the innate immune system, which results in systemic inflammation. This differs from autoimmune syndromes which result from errors of the adaptive immune system when self-tolerance is broken and autoantibodies are generated.CaseMrs. X, a 46yo F, was referred for further evaluation and treatment of a possible cold autoinflammatory syndrome. She has a history of cold-induced episodes starting in her late childhood, which have worsened in

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45

Ohmura, Koichiro. "Nakajo–Nishimura syndrome and related proteasome-associated autoinflammatory syndromes." Journal of Inflammation Research Volume 12 (September 2019): 259–65. http://dx.doi.org/10.2147/jir.s194098.

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46

Kareva, Lidija, Katarina Stavrik, and Kristina Mironska. "Cryopyrin-Associated Periodic Syndromes and Treatment Options." Open Access Macedonian Journal of Medical Sciences 8, F (2020): 241–45. http://dx.doi.org/10.3889/oamjms.2020.5024.

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Cryopyrin-associated periodic syndromes (CAPSs) are a growing family of autoinflammatory diseases, also known as periodic fever syndromes. There are three forms of CAPS: (1) Familial Cold autoinflammatory syndrome or familial cold urticaria, (2) Muckle-wells syndrome, and (3) neonatal-onset multisystem inflammatory disease or chronic infantile neurological cutaneous articular syndrome. Genetic mutations in the NLRP3 gene were found to be present in most patients. The foremost common findings between all the CAPS disorders are rash, fever which is sometimes present at birth or in early childhoo

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47

Jarosz-Griffiths, Heledd H., Jonathan Holbrook, Samuel Lara-Reyna, and Michael F. McDermott. "TNF receptor signalling in autoinflammatory diseases." International Immunology 31, no. 10 (2019): 639–48. http://dx.doi.org/10.1093/intimm/dxz024.

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Abstract Autoinflammatory syndromes are a group of disorders characterized by recurring episodes of inflammation as a result of specific defects in the innate immune system. Patients with autoinflammatory disease present with recurrent outbreaks of chronic systemic inflammation that are mediated by innate immune cells, for the most part. A number of these diseases arise from defects in the tumour necrosis factor receptor (TNFR) signalling pathway leading to elevated levels of inflammatory cytokines. Elucidation of the molecular mechanisms of these recently defined autoinflammatory diseases has

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48

Caso, Francesco, Donato Rigante, Antonio Vitale, et al. "Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues." International Journal of Rheumatology 2013 (2013): 1–15. http://dx.doi.org/10.1155/2013/513782.

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Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-on

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49

Gattorno, Marco, Maria Pelagatti, Silvia Federici, Giacomo Brisca, and Alberto Martini. "Clinical Presentation of Autoinflammatory Syndromes in Childhood." Current Rheumatology Reviews 4, no. 1 (2008): 34–45. http://dx.doi.org/10.2174/157339708783497928.

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50

Alhefny, Abdelazeim. "Autoinflammatory Diseases & The Periodic Fever Syndromes." Egyptian Journal of Rheumatology and Clinical Immunology 3, no. 1 (2015): 15–21. http://dx.doi.org/10.21608/ejrci.2015.9310.

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