Relevant bibliographies by topics / Autoinflammatory syndromes

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Autoinflammatory syndromes'

Author: Grafiati
Published: 4 June 2025
Last updated: 1 August 2025

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Journal articles on the topic "Autoinflammatory syndromes"

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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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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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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Autoinflammatory syndromes"

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Galozzi, Paola. "Functional studies on autoinflammatory diseases, focusing in particular on Blau syndrome." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3425282.

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BACKGROUND The autoinflammatory diseases are disorders characterized by recurrent inflammatory episodes in charge of different organs. There is no apparent involvement of autoantibodies nor of antigen-specific T lymphocytes, but dysregulation of the innate immune response. The Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease clinically characterized by symmetrical arthritis, granulomatous dermatitis and recurrent uveitis. The disease is caused by single mutations in CARD15/NOD2, encoding the NOD2 protein that is known to regulate the defense against pathogens by acti
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Books on the topic "Autoinflammatory syndromes"

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Foster, Brogan, and Paul A. Brogan. Systemic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.003.0004.

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This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others); juvenile SLE; scleroderma; JDM; overlap syndromes; antiphospholipid syndrome; sarcoid; and paediatric uveitis. In addition, it provides updated descriptions and treatment approaches for autoinflammatory diseases, including recently described diseases such as DADA, SAVI, CANDLE, and many others. Other systemic diseases described in detail inc
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Forsyth, Rob, and Richard Newton. Specific conditions. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198784449.003.0004.

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This chapter adopts a systematic approach to common diagnoses in paediatric neurology, aetiologies, management to include investigation and treatment, and outcome. For each condition current knowledge on cause and underlying biology is summarized. A rational approach to investigation and treatment is summarized for each topic. These include: acquired brain injury; autoimmune and autoinflammatory disease of the CNS; cerebral palsy and neurodisability which covers feeding, communication, special senses, and respiratory disease; demyelinating disease; epilepsy including its impact on daily life;
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Balcazar, Dominica. Coloring Book - You Will Get Better - Familial Cold Autoinflammatory Syndrome. Independently Published, 2021.

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Yurdakul, Sebahattin, Emire Seyahi, and Hasan Yazici. Behçet’s syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0135.

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Behçet's syndrome is a systemic inflammatory panvasculitis (affecting all sizes of vessels) of unknown aetiology. It is in vogue to include it among the systemic autoinflammatory conditions. Behçet's syndrome is more frequent along the ancient 'Silk Route' across Asia than it is in Western countries. The usual onset is the second or third decade, equally affecting either gender. However, young patients and male patients have more severe disease. Almost all patients have recurrent oral ulceration. Scar-forming genital ulcers, a variety of skin lesions including acneiform, erythema nodosum-like
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Voll, Reinhard E., and Barbara M. Bröker. Innate vs acquired immunity. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0048.

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The innate and the adaptive immune system efficiently cooperate to protect us from infections. The ancient innate immune system, dating back to the first multicellular organisms, utilizes phagocytic cells, soluble antimicrobial peptides, and the complement system for an immediate line of defence against pathogens. Using a limited number of germline-encoded pattern recognition receptors including the Toll-like, RIG-1-like, and NOD-like receptors, the innate immune system recognizes so-called pathogen-associated molecular patterns (PAMPs). PAMPs are specific for groups of related microorganisms
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Misbah, Siraj. Clinical features and diagnosis of immunological disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0294.

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Immunological disease can be broadly defined as a spectrum of problems ranging from failure of the immune system (primary or secondary immunodeficiency) to the clinical consequences of an overzealous immune system, manifesting clinically as autoimmunity, allergy, or, rarely, as an autoinflammatory syndrome. This chapter addresses the clinical features and diagnosis of immunological disease.
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Book chapters on the topic "Autoinflammatory syndromes"

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Nguyen, Tien V., and Kieron S. Leslie. "Autoinflammatory Syndromes." In Severe Skin Diseases in Children. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-39532-1_7.

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Moutsopoulos, Haralampos M., Evangelia Zampeli, and Panayiotis G. Vlachoyiannopoulos. "Autoinflammatory Syndromes." In Rheumatology in Questions. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-71604-6_9.

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Moutsopoulos, Haralampos M., and Evangelia Zampeli. "Autoinflammatory Syndromes." In Immunology and Rheumatology in Questions. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-56670-8_9.

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Ward, Brant R. "Autoinflammatory Syndromes." In Compendium of Inflammatory Diseases. Springer Basel, 2016. http://dx.doi.org/10.1007/978-3-7643-8550-7_188.

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Torrelo, Antonio, and Lucero Noguera. "Autoinflammatory Syndromes." In Pediatric Skin of Color. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6654-3_43.

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Laxer, Ronald M., David D. Sherry, and Philip J. Hashkes. "Autoinflammatory Syndromes." In Pediatric Rheumatology in Clinical Practice. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-13099-6_10.

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Ward, Brant R. "Autoinflammatory Syndromes." In Encyclopedia of Inflammatory Diseases. Springer Basel, 2015. http://dx.doi.org/10.1007/978-3-0348-0620-6_188-3.

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Fernandez, James M., John McDonnell, and Christine A. Royer. "Autoinflammatory Syndromes." In Primary and Secondary Immunodeficiency. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-57157-3_13.

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Gattorno, Marco, Alberto Martini, Raphaela Goldbach-Mansky, Pamela Aubert, and Polly J. Ferguson. "Monogenic Autoinflammatory Syndromes." In A Clinician's Pearls and Myths in Rheumatology. Springer London, 2009. http://dx.doi.org/10.1007/978-1-84800-934-9_5.

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Aksentijevich, Ivona, and Eldad Ben-Chetrit. "Monogenic Autoinflammatory Syndromes." In A Clinician's Pearls & Myths in Rheumatology. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-23488-0_5.

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Conference papers on the topic "Autoinflammatory syndromes"

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Russell, Maranda, Aleksander Lenert, Katherine Liao, Tianrun Cai, and Sujin Kim. "Identifying an Autoinflammatory Syndrome Cohort Using Natural Language Processing with Electronic Medical Record Data." In 18th International Conference on Health Informatics. SCITEPRESS - Science and Technology Publications, 2025. https://doi.org/10.5220/0013323500003911.

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Garvin Grande, N., P. Turiel, M. Beladiez Giner, C. Zamora Ramos, M. Alcalde Villar, and P. Collado. "AB0016 CASE SERIES OF AUTOINFLAMMATORY SYNDROMES IN ADULTHOOD." In EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.1423.

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Więsik-Szewczyk, Ewa, Dariusz Soldacki, Beata Woska-Kuśnierz, et al. "AB1112 DIAGNOSTIC DELAY AND DAMAGE OF POLISH ADULT PATIENTS AFFECTED BY HEREDITARY AUTOINFLAMMATORY SYNDROMES." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.4948.

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Ruiz Roman, A., S. Garcia Morillo, M. A. Montes Cano, et al. "THU0607 Autoinflammatory syndromes: clinical and genetic characterisation of a cohort of adult patients in a single reference centre." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.7434.

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ZURRO, NURIA BENGALA, LAÍS RODRIGUES MOURA, CHEYSA ARIELLY BIONDO, et al. "FREQUENCY OF PATHOGENIC, "RISK FACTOR" AND UNCERTAIN SIGNIFICANCE VARIANTS IN 378 BRAZILIAN PATIENTS WITH SUSPECTED AUTOINFLAMMATORY SYNDROMES." In 36º Congresso Brasileiro de Reumatologia. Editora Blucher, 2019. http://dx.doi.org/10.5151/sbr2019-451.

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Linhares, Gabriella Tavares de Oliveira, Rebecca Maria Nascimento Eulalio Agra Lima, Cecília Gonçalves Bezerra, et al. "VACUOLES, E1 ENZYME, X-LINKED, AUTOINFLAMMATORY, SOMATIC SYNDROME SYNDROME: A CASE REPORT." In XLI Congresso Brasileiro de Reumatologia. Sociedade Brasileira de Reumatologia, 2024. https://doi.org/10.47660/cbr.2024.2357.

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Ferrara, Giovanna, Silvio Polizzi, Erica Valencic, et al. "AB1105 A NOVEL AUTOINFLAMMATORY AND LYMPHOPROLIFERATIVE SYNDROME ASSOCIATED WITH PIM1 MUTATIONS." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.8060.

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Mendez, Lara, Clara Aguilera Cros, Ricardo Juan Gil Velez, et al. "AB0012 GENETIC EXPRESSION AND CLINICAL MANIFESTATIONS IN A COHORT OF PATIENTS WITH AUTOINFLAMMATORY SYNDROME." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.5808.

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Riller, Q., L. Barnabei, M. Rodrigo-Riestra, et al. "POS0378 HETEROZYGOUS LOSS-OF-FUNCTION RELA MUTATIONS LEAD TO SYSTEMIC LUPUS ERYTHEMATOSUS OR AUTOINFLAMMATORY SYNDROME." In EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.4504.

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Román, Alberto Ruiz, Salvador García Morillo, Marco Montes Cano, Clara Aguilera Cros, Esteban Rubio Romero, and Ricardo Gil Velez. "FRI0610 CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME: A SERIE OF CASES IN A ADULT’S PATIENTS COHORT WITH AUTOINFLAMMATORY SYNDROME IN A THIRD LEVEL HOSPITAL." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.6805.

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