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Sarcoidosis: Advances on Pathogenesis and Therapies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (10 March 2024) | Viewed by 5193

Special Issue Editor


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Guest Editor
COVID-19 Medicine Unit and Geriatrics Clinic, S.S. Annunziata Hospital of Chieti, 66100 Chieti, Italy
Interests: internal medicine; rare disorders; pain; headache; sarcoidosis; comorbidity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Sarcoidosis is a relatively rare disorder characterized by granulomatous inflammation inside organs, systemic symptoms, and organ dysfunction of variable degree. Most commonly, lungs and intra thoracic lymph nodes are the organs primarily affected in a significant percentage of cases, and a mainstay of treatment rely on glucocorticoids and immunosuppressive drugs, which are indicated when the first therapy is not effective or not tolerated. An aberrant immune response to some unidentified antigens has been reported to be the key mechanism of disease in genetically susceptible subjects. Several studies have investigated the gene expression profiles in sarcoidosis patients vs. Healthy controls, but there is a substantial “grey area” of research about pathogenetic mechanisms and therapeutic implications. The introduction of novel techniques of molecular analysis is giving new information about the management of this complex disease. The scope of this Special Issue is to report the latest research on molecular mechanisms and diagnostic and therapeutic implications of sarcoidosis. Both research studies and systematic reviews are encouraged. Studies about molecular interactions between disorders are also welcomed.

Dr. Claudio Tana
Guest Editor

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Keywords

  • sarcoidosis
  • granulomatous tissue
  • immune system
  • molecular mechanisms
  • corticosteroids

Published Papers (3 papers)

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Research

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12 pages, 2362 KiB  
Article
Simultaneous Assessment of mTORC1, JAK/STAT, and NLRP3 Inflammasome Activation Pathways in Patients with Sarcoidosis
by Raisa Kraaijvanger, Carmen A. Ambarus, Jan Damen, Joanne J. van der Vis, Karin M. Kazemier, Jan C. Grutters, Coline H. M. van Moorsel and Marcel Veltkamp
Int. J. Mol. Sci. 2023, 24(16), 12792; https://doi.org/10.3390/ijms241612792 - 14 Aug 2023
Cited by 1 | Viewed by 1009
Abstract
The unknown etiology of sarcoidosis, along with the variability in organ involvement and disease course, complicates the effective treatment of this disease. Based on recent studies, the cellular inflammatory pathways involved in granuloma formation are of interest regarding possible new treatment options, such [...] Read more.
The unknown etiology of sarcoidosis, along with the variability in organ involvement and disease course, complicates the effective treatment of this disease. Based on recent studies, the cellular inflammatory pathways involved in granuloma formation are of interest regarding possible new treatment options, such as the mechanistic (formerly mammalian) target of rapamycin complex 1 (mTORC1) pathway, the Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway, and the nucleotide-binding domain, leucine-rich-containing family, pyrin domain-containing-3 (NLRP3) inflammasome pathway. The aim of this study was to explore the potential coexpression of these three inflammatory pathways in patients with sarcoidosis and see whether possible differences were related to disease outcome. The tissue of 60 patients with sarcoidosis was used to determine the activity of these three signaling pathways using immunohistochemistry. The activation of NLRP3 was present in 85% of all patients, and the activation of mTORC1 and JAK/STAT was present in 49% and 50% of patients, respectively. Furthermore, the presence of NLRP3 activation at diagnosis was associated with a chronic disease course of sarcoidosis. Our finding of different new conceptual inflammatory tissue phenotypes in sarcoidosis could possibly guide future treatment studies using the available inhibitors of either NLRP3, JAK-STAT, and mTORC1 inhibitors in a more personalized medicine approach. Full article
(This article belongs to the Special Issue Sarcoidosis: Advances on Pathogenesis and Therapies)
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Review

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13 pages, 867 KiB  
Review
Common Clinical and Molecular Pathways between Migraine and Sarcoidosis
by Claudio Tana, David Garcia Azorin, Francesco Cinetto, Cesare Mantini, Marco Tana, Massimo Caulo, Fabrizio Ricci, Paolo Martelletti, Francesco Cipollone and Maria Adele Giamberardino
Int. J. Mol. Sci. 2023, 24(9), 8304; https://doi.org/10.3390/ijms24098304 - 5 May 2023
Cited by 3 | Viewed by 2404
Abstract
Migraine and sarcoidosis are two distinct medical conditions that may have some common biological and clinical pathways. Sarcoidosis is a chronic granulomatous disease characterized by the formation of granulomas in various organs, including the lungs, skin, cardiovascular system, lymph nodes, and brain. Migraine [...] Read more.
Migraine and sarcoidosis are two distinct medical conditions that may have some common biological and clinical pathways. Sarcoidosis is a chronic granulomatous disease characterized by the formation of granulomas in various organs, including the lungs, skin, cardiovascular system, lymph nodes, and brain. Migraine is a common comorbidity in sarcoidosis patients and a common neurological disorder characterized by recurrent headaches that can be accompanied by other symptoms, such as nausea, vomiting, and sensitivity to light and sound. There have been several reports of individuals with neurosarcoidosis experiencing migraines, though the exact relationship between the two disorders is not well understood. Both conditions have been associated with inflammation and the activation of the immune system. In sarcoidosis, the formation of granulomas is thought to be an immune response to the presence of an unknown antigen. Similarly, the pain and other symptoms associated with migraines are thought to be caused by inflammation in the brain and the surrounding blood vessels. There is also evidence to suggest an interplay of environmental and genetic factors playing a role in both conditions, but evidence is inconsistent with the hypothesis of shared genetic susceptibility. This review aims to illustrate common clinical and biological pathways between migraine and sarcoidosis, including inflammation and dysregulation of the immune system, with a focus on the cumulative burden of concurrent disorders and therapeutic implications. Full article
(This article belongs to the Special Issue Sarcoidosis: Advances on Pathogenesis and Therapies)
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Other

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16 pages, 4202 KiB  
Case Report
The Overlap of Kidney Failure in Extrapulmonary Sarcoidosis in Children—Case Report and Review of Literature
by Adriana Mocanu, Roxana Alexandra Bogos, Laura Mihaela Trandafir, Elena Cojocaru, Ileana Ioniuc, Mirabela Alecsa, Vasile Valeriu Lupu, Lucian Miron, Tudor Ilie Lazaruc, Ancuta Lupu, Ingrith Crenguta Miron and Iuliana Magdalena Starcea
Int. J. Mol. Sci. 2023, 24(8), 7327; https://doi.org/10.3390/ijms24087327 - 15 Apr 2023
Cited by 2 | Viewed by 1336
Abstract
Sarcoidosis is a non-necrotizing granulomatous inflammatory multisystemic disorder of unknown etiology. In children, as in adults, it can involve a few or all organ systems to a varying extent and degree, entailing multisystemic manifestations. Kidney involvement in pediatric-onset adult-type sarcoidosis is rare, with [...] Read more.
Sarcoidosis is a non-necrotizing granulomatous inflammatory multisystemic disorder of unknown etiology. In children, as in adults, it can involve a few or all organ systems to a varying extent and degree, entailing multisystemic manifestations. Kidney involvement in pediatric-onset adult-type sarcoidosis is rare, with a wide range of renal manifestations, most of them related to calcium metabolism. Children with renal sarcoidosis tend to be more symptomatic than adults, although male patients have a higher prevalence. We present the case of a 10-year-old boy who presented with advanced renal failure with nephrocalcinosis and important hepatosplenomegaly. The diagnosis was established by histopathological examination, with consequent cortisone therapy and hemodialysis. This review emphasizes that sarcoidosis should be considered in the differential diagnosis of pediatric patients with acute kidney insufficiency or chronic kidney disease of an unknown etiology. As far as we know, this is the first study regarding extrapulmonary sarcoidosis in children from Romania. Full article
(This article belongs to the Special Issue Sarcoidosis: Advances on Pathogenesis and Therapies)
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