Article
Multidisciplinary Sciences
Shikha Nayar, Joshua K. Morrison, Mamta Giri, Kyle Gettler, Ling-Shiang Chuang, Laura A. Walker, Huaibin M. Ko, Ephraim Kenigsberg, Subra Kugathasan, Miriam Merad, Jaime Chu, Judy H. Cho
Summary: NOD2 deficiency contributes to fibrosis and stricturing complications in Crohn's disease through dysregulated homeostasis of activated fibroblasts and macrophages, which can be ameliorated by gp130 blockade. Carriers of NOD2 risk alleles exhibit dysregulated homeostasis of activated fibroblasts and macrophages, suggesting a potential role for gp130 blockade in rescuing the activated program caused by NOD2 mutations.
Article
Cell Biology
Yuanxin Liang, Shengjie Cui, Alexandros D. Polydorides
Summary: The study shows that GG is not correlated with patients with granulomatous diseases, but may be associated with Helicobacter pylori when such diagnosis is lacking. Among CD patients, younger age and upper GI symptoms are associated with a new CD diagnosis, whereas multiple gastric granulomas and lack of upper GI symptoms correlate with lower GI granulomas.
Article
Multidisciplinary Sciences
Maryam Ghalandary, Yue Li, Thomas Frohlich, Thomas Magg, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Raffaele Conca, Tobias Schwerd, Holm H. Uhlig, Philip Bufler, Sibylle Koletzko, Aleixo M. Muise, Scott B. Snapper, Fabian Hauck, Christoph Klein, Daniel Kotlarz
Summary: NOD2 polymorphisms may affect the perception of bacterial MDP and trigger inflammatory responses. A rare homozygous missense mutation in the first CARD domain of NOD2 was found in a patient with immunodeficiency and enteropathy. The mutation impaired NOD2-dependent signaling and proinflammatory cytokine production. The study also discovered that VCP is a novel interaction partner of NOD2, and VCP-mediated inflammatory responses upon ER stress are NOD2-dependent.
SCIENTIFIC REPORTS
(2022)
Article
Cell Biology
Francesco Giudici, Tiziana Cavalli, Cristina Luceri, Edda Russo, Daniela Zambonin, Stefano Scaringi, Ferdinando Ficari, Marilena Fazi, Amedeo Amedei, Francesco Tonelli, Cecilia Malentacchi
Summary: The study found that polymorphisms in CARD15/NOD2 are associated with the clinical behavior of Crohn's disease (CD). Patients carrying different polymorphisms may have different response rates to treatment and risks of surgical recurrence.
MEDIATORS OF INFLAMMATION
(2021)
Article
Immunology
Clare S. Hardman, Yi-Ling Chen, Maryam Salimi, Janina Nahler, Daniele Corridoni, Marta Jagielowicz, Chathuranga L. Fonseka, David Johnson, Emmanouela Repapi, David J. Cousins, Jillian L. Barlow, Andrew N. J. McKenzie, Alison Simmons, Graham Ogg
Summary: Cutaneous ILC2 can directly sense skin pathogens through NOD2 and TLR2, leading to cytokine production. NOD2 signaling plays a role in regulating ILC2-derived IL-6 and activating autophagy.
SCIENCE IMMUNOLOGY
(2021)
Article
Gastroenterology & Hepatology
Maria Witte, Johannes Reiner, Karen Bannert, Robert Jaster, Christian Maschmeier, Clemens Schafmayer, Georg Lamprecht, Peggy Berlin
Summary: NOD2 deficiency leads to significantly reduced bursting pressure after ileocecal resection, indicating poorer anastomotic healing. This effect is mediated by increased matrix turnover, suggesting that patients with genetic NOD2 variations may have a higher risk of anastomotic failure after bowel resection.
INFLAMMATORY BOWEL DISEASES
(2021)
Article
Dermatology
Yumeng Jiang, Yingxue Huang, Guangrong Ma, Tangxiele Liu, Qianwen Li, Haijing Wu, Ji Li
Summary: This study investigated the differences between granulomatous rosacea (GR) and non-granulomatous rosacea (NGR) in clinical characteristics, histopathological changes, and gene expression. GR patients were more prone to developing rosacea in the forehead, periocular, and perioral skin, and had more severe papules and pustules compared to NGR patients. In terms of histopathological features, inflammatory cells primarily infiltrated around hair follicles in the GR group and around blood vessels in the NGR group. GR patients had higher levels of neutrophils and CD4(+), CD8(+), and CD68(+) cells, as well as apparent collagen hyperplasia. RNA sequencing and transcriptome analysis revealed differentially expressed genes related to neutrophil activation and collagen hyperplasia, such as CTSS, CTSZ, and MMP9.
JOURNAL OF DERMATOLOGY
(2023)
Article
Dermatology
JiHoon Yang, SooIck Cho, DaeHun Suh
Summary: Granulomatous rosacea is a rare inflammatory skin disease characterized by granulomatous inflammation, mostly affecting the cheeks in female patients. Clinical features are mainly consistent with erythematotelangiectatic or papulopustular rosacea.
Article
Dermatology
Mingyang Ren, Xianhong Yang, Yan Teng, Wei Lu, Yang Ding, Xiaohua Tao
Summary: Granulomatous rosacea (GR) is a rare inflammatory skin disease characterized by distinctive lesions. A case of a 53-year-old female patient with GR is described, showing significant improvement after treatment. Literature review suggests that abrocitinib is an effective and well-tolerated treatment option for GR.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2023)
Article
Gastroenterology & Hepatology
Hassan Abdelnaby, Ndeye Coumba Ndiaye, Ferdinando D'Amico, Ahmed Mahmoud Fouad, Sameh Hassan, Alaa Elshafey, Wafaa Al Hashash, Mohammed Faisal, Yousef Alshamali, Talal Al-Taweel, Laurent Peyrin-Biroulet
Summary: NOD2/CARD15 gene polymorphisms are significantly associated with an increased risk of disease and aggressive phenotypes among Kuwaiti CD patients. Patients with multiple polymorphisms are more likely to have CD and exhibit more severe disease manifestations.
SAUDI JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Dermatology
Ji Eun Maeng, Sun Woo Son, Soo-Jin Lee, Jin Cheol Kim, Seokhwi Kim, Hee Young Kang, Young Joon Park
Summary: This study reports on the successful treatment of recalcitrant granulomatous rosacea (GR) with pulsed-dye laser (PDL) and provides experimental evidence supporting its potential as a therapeutic option. PDL treatment showed remarkable efficacy in three clinical cases with resistance to conventional therapies. Experimental findings suggest that PDL may modulate CXCL9 secretion in fibroblasts, potentially limiting immune cell recruitment to the lesion.
JOURNAL OF DERMATOLOGY
(2023)
Article
Dermatology
Ye Ji Jang, Eun Hye Hong, Eun Joo Park, Kwang Joong Kim, Kwang Ho Kim
Summary: The study found a significant increase in the expression of mast cells in granulomatous rosacea, and higher expression of toll-like receptor 2 compared to the control group. These results suggest that the increased expression of mast cells may indicate a chronic, later stage of granulomatous rosacea, while the increase in toll-like receptor 2 expression implies that cathelicidin-induced neuroimmune pathogenesis also contributes to the pathophysiology of granulomatous rosacea.
INDIAN JOURNAL OF DERMATOLOGY
(2021)
Review
Gastroenterology & Hepatology
Amanda Ricciuto, Martine Aardoom, Esther Orlanski-Meyer, Dan Navon, Nicholas Carman, Marina Aloi, Jiri Bronsky, Jan Daebritz, Marla Dubinsky, Seamus Hussey, Peter Lewindon, Javier Martin De Carpi, Victor Manuel Navas-Lopez, Marina Orsi, Frank M. Ruemmele, Richard K. Russell, Gabor Veres, Thomas D. Walters, David C. Wilson, Thomas Kaiser, Lissy de Ridder, Dan Turner, Anne M. Griffiths
Summary: Through expert survey and literature review, predictors of poor outcomes in pediatric CD were identified, aiding in the development of treatment algorithms and planning future studies.
Article
Immunology
Liming Mao, Atika Dhar, Guangxun Meng, Ivan Fuss, Kim Montgomery-Recht, Zhiqiong Yang, Qiuyun Xu, Atsushi Kitani, Warren Strober
Summary: These studies provide insights into the pathogenesis of Blau syndrome and the role of NOD2 gene mutations. The findings suggest that Blau NOD2 mutations lead to loss of NOD2 signaling and disruption of NOD2-mediated cross-regulation, resulting in inflammation. The studies also indicate that NOD2-mediated cross-regulation is controlled by IRF4, and faulty NOD2 signaling reduces IRF4 expression and contributes to inflammation.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Otorhinolaryngology
Sophia M. Colevas, Bradley T. Gietman, Shelly M. Cook, Tony L. Kille
Summary: This case report describes a 12-year-old male with a family history of inflammatory bowel disease who presented with sleep-disordered breathing and was found to have chronic, granulomatous swelling of the supraglottic larynx. The management included various treatments such as tracheostomy, laryngeal steroid injections, supraglottoplasty, and CO2 laser resurfacing. The leading diagnosis was Crohn disease, but isolated laryngeal sarcoidosis could not be ruled out. This case adds to the limited literature on laryngeal manifestations of Crohn disease.
ENT-EAR NOSE & THROAT JOURNAL
(2022)
Review
Genetics & Heredity
Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek, Maurice A. M. van Steensel
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)
Article
Developmental Biology
Emma J. Kenyon, Monique N. H. Luijten, Harmeet Gill, Nan Li, Matthew Rawlings, James C. Bull, Yavor Hadzhiev, Maurice A. M. van Steensel, Eamonn Maher, Ferenc Mueller
BMC DEVELOPMENTAL BIOLOGY
(2016)
Letter
Dermatology
C. M. L. Volker-Touw, H. D. de Koning, J. C. Giltay, C. G. F. de Kovel, T. S. van Kempen, K. M. E. J. Oberndorff, M. L. Boes, M. A. M. van Steensel, G. T. J. van Well, W. A. M. Blokx, J. Schalkwijk, A. Simon, J. Frenkel, M. E. van Gijn
BRITISH JOURNAL OF DERMATOLOGY
(2017)
Editorial Material
Dermatology
Maurice A. M. van Steensel
EXPERIMENTAL DERMATOLOGY
(2017)
Editorial Material
Dermatology
Maurice A. M. van Steensel
EXPERIMENTAL DERMATOLOGY
(2017)
Article
Genetics & Heredity
Ruud G. L. Nellen, Peter M. Steijlen, Maurice A. M. van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
Letter
Allergy
Patrick L. J. M. Zeeuwen, Thomas H. A. Ederveen, Danique A. van der Krieken, Hanna Niehues, Jos Boekhorst, Sanja Kezic, Danielle A. T. Hanssen, Marisol E. Otero, Ivonne M. J. J. van Vlijmen-Willems, Diana Rodijk-Olthuis, Denise Falcone, Ellen H. J. van den Bogaard, Marijke Kamsteeg, Heleen D. de Koning, Manon E. J. Zeeuwen-Franssen, Maurice A. M. van Steensel, Michiel Kleerebezem, Harro M. Timmerman, Sacha A. F. T. van Hijum, Joost Schalkwijk
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2017)
Letter
Dermatology
I. F. Nagtzaam, V. P. M. Peeters, M. Vreeburg, A. Wagner, P. M. Steijlen, M. van Geel, M. A. M. van Steensel
BRITISH JOURNAL OF DERMATOLOGY
(2018)
Article
Dermatology
Jennifer A. Easton, Ahmad K. Albuloushi, Miriam A. F. Kamps, Gladys H. M. R. Brouns, Jos L. Broers, Barry J. Coull, Vincent Oji, Michel van Geel, Maurice A. M. van Steensel, Patricia E. Martin
EXPERIMENTAL DERMATOLOGY
(2019)
Letter
Dermatology
L. J. M. T. Parren, J. M. Baron, S. Joussen, Y. Marquardt, S. Hanneken, M. A. M. van Steensel, P. M. Steijlen, M. van Geel, J. Frank
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2018)
Article
Multidisciplinary Sciences
Christian Wiraja, Ying Zhu, Daniel Chin Shiuan Lio, David C. Yeo, Mo Xie, Weina Fang, Qian Li, Mengjia Zheng, Maurice Van Steensel, Lihua Wang, Chunhai Fan, Chenjie Xu
NATURE COMMUNICATIONS
(2019)
Review
Dermatology
J. E. A. Common, J. N. Barker, M. A. M. van Steensel
BRITISH JOURNAL OF DERMATOLOGY
(2019)
Article
Biology
Ivo J. H. M. de Vos, Arnette Shi Wei Wong, Jason Taslim, Sheena Li Ming Ong, Nicole C. Syder, Julian L. Goggi, Thomas J. Carney, Maurice A. M. van Steensel
Article
Dermatology
Maurice A. M. van Steensel, Goh Boon Chong
Summary: While C. acnes has long been implicated in acne pathogenesis, recent evidence suggests it may not be directly related as previously thought. Abnormal differentiation of sebaceous progenitor cells is found to be the primary lesion of comedones rather than a direct impact from C. acnes. This has significant implications for acne treatment, especially concerning the use of antibiotics.
EXPERIMENTAL DERMATOLOGY
(2021)
Article
Dermatology
Wei Shang, Alvin Yong Quan Tan, Maurice A. M. van Steensel, Xinhong Lim
Summary: Balancing stem cell proliferation and differentiation is crucial for tissue maintenance and growth. Dysregulation of stem cell regulation, such as Wnt signaling, may lead to abnormal fate determination of stem cells in the hair follicle junction zone (JZ), resulting in cystic structures resembling human acne. Modulating Wnt signaling in JZ stem cells in mouse models confirmed the involvement of Wnt signaling in the formation of JZ cysts and sebaceous gland atrophy. Additionally, all-trans retinoic acid treatment and Hedgehog signaling inhibition showed promising therapeutic effects on these cysts.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
Matthew J. Davis, Gokul Srinivasan, Rachael Chacko, Sophie Chen, Anish Suvarna, Louis J. Vaickus, Veronica C. Torres, Sassan Hodge, Eunice Y. Chen, Sarah Preum, Kimberley S. Samkoe, Brock C. Christensen, Matthew R. Leboeuf, Joshua J. Levy
Summary: The development and application of AI algorithms are of great significance for the removal of cSCC, as they can improve operational efficiency and accuracy, especially for moderately and poorly differentiated tumors/ neoplasms. Further improvement is needed to maintain sensitivity to surrounding tissue and determine anatomical positioning.
EXPERIMENTAL DERMATOLOGY
(2024)
Article
Dermatology
Lingjing Chen, Qing Yu, Feiying Guo, Xuewen Wang, Zhenying Cai, Qiang Zhou
Summary: This study investigated the role and mechanisms of NTS in stress-induced hair growth inhibition. The results demonstrated that NTS effectively counteracted hair growth inhibition caused by stress and regulated the expression of multiple genes related to hair growth at the transcriptional level.
EXPERIMENTAL DERMATOLOGY
(2024)