Article
Allergy
Iwona Dziewa, Timothy Hahn, Neeti Bhardwaj
Summary: This case highlights a 1-month-old girl with a diffuse urticarial-like rash since birth, showing elevated inflammatory markers upon initial evaluation. Treatment response played a key role in narrowing down the diagnosis, while also emphasizing the importance of a therapeutic trial of medication in diagnosing rashes in this age group.
ALLERGY AND ASTHMA PROCEEDINGS
(2021)
Review
Allergy
Tomoko Matsuda, Riko Takimoto-Ito, Dan Lipsker, Naotomo Kambe
Summary: CAPS and SchS are autoinflammatory diseases presenting with urticaria-like rashes. CAPS is caused by dysfunction of the NLRP3 gene, while the pathogenesis of SchS remains unknown and is not associated with the NLRP3 gene. IL-1-targeted therapies have greatly improved the prognosis of CAPS. Treatment for SchS is challenging with no established treatments, but IL-1 targeting is recommended in difficult cases. The efficacy of IL-1 therapy may help understand the pathogenesis of SchS.
ALLERGOLOGY INTERNATIONAL
(2023)
Article
Immunology
Anna Sophie Wesselmann, Axel Kuenstner, Anke Faehnrich, Christian Rose, Peter Lamprecht, Hauke Busch, Ralf J. Ludwig, Andreas Recke
Summary: Schnitzler syndrome is a rare autoinflammatory disorder characterized by urticarial rash, joint pain, recurrent fever, leucocytosis, elevated CRP and SAA, and monoclonal gammopathy. This case report highlights that the existing Strasbourg criteria for diagnosis may be too strict, as a Schnitzler-like syndrome was diagnosed despite the absence of gammopathy. The patient showed neutrophilic dermal inflammation, excessive increase in inflammatory parameters, prompt response to anakinra, and neutrophil epitheliotropism, suggesting an autoinflammatory disease.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Medicine, General & Internal
Sandeep Pagali, Riddhi S. Parikh
Summary: Cutaneous manifestations of COVID-19 in a 54-year-old woman included acral lesions, urticarial rash, erythematous maculopapular rash, vascular rashes and vesicular rash. These manifestations are mostly self-limiting and antihistamine therapy is the primary recommended treatment. The role of antiviral therapy for severe cases of rash needs further assessment.
Article
Medicine, General & Internal
Usamah Al-Anbagi, Shybin Usman, Abdulqadir J. Nashwan
Summary: During the COVID-19 pandemic, skin manifestations such as various rashes and vascular lesions have been observed. Additionally, patients may experience mild respiratory symptoms, digestive discomfort, and systemic symptoms.
CLINICAL CASE REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Claire J. Peet, Dorota Rowczenio, Ebun Omoyinmi, Charalampia Papadopoulou, Bella Ruth R. Mapalo, Michael R. Wood, Francesca Capon, Helen J. Lachmann
Summary: Idiopathic recurrent pericarditis (IRP) is a rare disease with significant morbidity, often requiring corticosteroid treatment. This study found that IRP is associated with variants in the MEFV gene, which is involved in interleukin-1 beta processing. Patients with IRP often exhibit systemic inflammation and extrapericardial effusions, and corticosteroid dependence is linked to chronic noninflammatory pain.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Rheumatology
Ayaka Maeda, Naomi Tsuchida, Yuri Uchiyama, Nobuyuki Horita, Satoshi Kobayashi, Mitsumasa Kishimoto, Daisuke Kobayashi, Haruki Matsumoto, Tomoyuki Asano, Kiyoshi Migita, Ayaka Kato, Ichiro Mori, Hiroyuki Morita, Akihiro Matsubara, Yoshiaki Marumo, Ito Yuji, Tomoaki Machiyama, Tsuyoshi Shirai, Tomonori Ishii, Mari Kishibe, Yusuke Yoshida, Shintaro Hirata, Satoshi Akao, Akitsu Higuchi, Ryo Rokutanda, Ken Nagahata, Hiroki Takahashi, Kosuke Katsuo, Toshio Ohtani, Hiroshi Fujiwara, Hiromichi Nagano, Takashi Hosokawa, Takanori Ito, Yoichiro Haji, Hiroyuki Yamaguchi, Noboru Hagino, Toshimasa Shimizu, Tomohiro Koga, Atsushi Kawakami, Goichi Kageyama, Hiroshi Kobayashi, Akiko Aoki, Akinari Mizokami, Yoichi Takeuchi, Rena Motohashi, Hiroyuki Hagiyama, Masaki Itagane, Hiroyuki Teruya, Tomohiro Kato, Yuji Miyoshi, Takayasu Kise, Naoto Yokogawa, Takako Ishida, Naoki Umeda, Shuntaro Isogai, Taio Naniwa, Toru Yamabe, Kaori Uchino, Jo Kanasugi, Akiyoshi Takami, Yasushi Kondo, Kazunori Furuhashi, Koichi Saito, Shigeru Ohno, Daiga Kishimoto, Mari Yamamoto, Yoshiro Fujita, Yuichiro Fujieda, Sachiko Araki, Hiroshi Tsushima, Kyohei Misawa, Akira Katagiri, Takahiro Kobayashi, Kenichi Hashimoto, Takehiro Sone, Yukiko Hidaka, Hiroaki Ida, Ryuta Nishikomori, Hiroshi Doi, Katsumichi Fujimaki, Keiichi Akasaka, Masako Amano, Hidekazu Matsushima, Kaori Kashino, Hidenori Ohnishi, Yuki Miwa, Noriyuki Takahashi, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Yohei Kirino, Hideaki Nakajima, Naomichi Matsumoto
Summary: The study aims to detect UBA1 variants and establish a clinical scoring system for predicting patients with VEXAS syndrome. Using PCR and sequencing techniques, UBA1 variants were successfully detected, and the clinical scoring system efficiently predicted the presence of variants in patients.
Article
Allergy
Camille Louvrier, Fawaz Awad, Anne Cosnes, Elma El Khouri, Eman Assrawi, Aphrodite Daskalopoulou, Bruno Copin, Helene Bocquet, Sandra Chantot Bastaraud, Angela Arenas Garcia, Florence Dastot Le Moal, Pierre De La Grange, Philippe Duquesnoy, Chiara Guerrera, William Piterboth, Nicolas Ortonne, Olivier Chosidow, Sonia A. Karabina, Serge Amselem, Irina Giurgea
Summary: This study investigated a familial form of chronic urticarial lesions associated with hypercytokinemia. Genetic analyses and transcriptomic analyses revealed the important role of mysterin in the molecular network of innate immunity.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Editorial Material
Medicine, General & Internal
Erika P. Ong, Frances V. Ho
Summary: A young woman from the Philippines developed an itchy rash for 1 day, accompanied by resolved symptoms of fever, myalgias, and headache. Her rash was maculopapular with erythematous patches surrounded by unaffected skin.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Medicine, Research & Experimental
Eva Lausberg, Sebastian Giesselmann, Joseph P. Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara D. van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till Braunschweig, Joachim Weis, Clemens J. Sommer, Stephanie Demuth, Claudia Haase, Claudia Stollbrink-Peschgens, Francois-Guillaume Debray, Cecile Libioulle, Daniela Choukair, Prasad T. Oommen, Arndt Borkhardt, Harald Surowy, Dagmar Wieczorek, Norbert Wagner, Robert Meyer, Thomas Eggermann, Matthias Begemann, Emile Van Schaftingen, Martin Hausler, Klaus Tenbrock, Lambert van den Heuvel, Miriam Elbracht, Ingo Kurth, Florian Kraft
Summary: Our study reveals that C2orf69 is associated with brain abnormalities, liver dysfunction, and recurrent autoinflammation, as well as influencing mitochondrial function and glycogen metabolism.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Genetics & Heredity
Fabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, Marc Mirande, Jeremy Berthelet, Fernando Rodrigues-Lima, Anis Khiat, Marie-Louise Fremond, Brigitte Bader-Meunier, Marco M. Rodari, Luis Seabra, Gillian Rice, Marie Legendre, David Drummond, Laureline Berteloot, Charles-Joris Roux, Nathalie Boddaert, Philippe Drabent, Thierry Jo Molina, Florence Lacaille, Manoelle Kossorotoff, Nadine Cerf-Bensussan, Marianna Parlato, Alice Hadchouel
Summary: Variants in aminoacyl-tRNA synthetases (ARSs) genes are associated with a wide range of human inherited diseases, with defective PheRS leading to symptoms like brain abnormalities. Furthermore, FARSA deficiency can cause inflammation and autoimmunity, with JAK inhibition showing improvement in lung disease.
Editorial Material
Neurosciences
Phan Q. Duy, Pasko Rakic, Seth L. Aper, William E. Butler, Christopher A. Walsh, Nenad Sestan, Daniel H. Geschwind, Sheng Chih Jin, Kristopher T. Kahle
Summary: Dilation of fluid-filled cerebral ventricles, known as ventriculomegaly, is a common feature of hydrocephalus and is often seen in autism and schizophrenia. Recent research indicates that studying the genomics of congenital hydrocephalus may provide valuable insights into neural stem cell regulation, human cerebrocortical development, and the pathogenesis of neuropsychiatric diseases.
Article
Allergy
Caspar van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P. J. Willems, Arjan J. Kwakernaak, Ruud G. L. de Sevaux, Paul L. A. van Daele, Annet Simons, Marloes Heijstek, David B. Beck, Mihai G. Netea, Pieter van Paassen, A. Elizabeth Hak, Lars T. van der Veken, Marielle E. van Gijn, Alexander Hoischen, Frank L. van de Veerdonk, Helen L. Leavis, Abraham Rutgers
Summary: A novel autoinflammatory syndrome called VEXAS has been discovered in male patients with somatic mutations in the UBA1 gene. This study retrospectively diagnosed VEXAS in previously unclassified autoinflammatory patients and described the clinical experiences with this complex disease. Through reanalysis of whole-exome sequencing data, 12 male patients with UBA1 mutations were identified. These patients experienced adult-onset autoinflammation with systemic symptoms, elevated inflammatory parameters, and multiorgan involvement, particularly affecting the skin and bone marrow. New features of VEXAS included interstitial nephritis, cardiac involvement, stroke, and intestinal perforation related to tocilizumab treatment. Despite various treatments, most patients were treatment-refractory, leading to a high mortality rate of 50%.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Editorial Material
Medicine, General & Internal
Hiroyuki Yano, Mitsuyo Kinjo
Summary: An 82-year-old woman presented with 2 months of diarrhea, 2 weeks of pruritic rash on her extremities, and a recent left radius fracture; she was malnourished but most laboratory parameters were normal except for mild hyponatremia and low levels of copper and zinc. The diagnosis may be a condition related to malnutrition, requiring further evaluation and treatment.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Article
Immunology
Fabian Loetscher, Luca Seitz, Helena Simeunovic, Adela-Cristina Sarbu, Naomi A. Porret, Laurence Feldmeyer, Luca Borradori, Nicolas Bonadies, Britta Maurer
Summary: Somatic genetic mutations involving innate and inflammasome signaling are important in the pathogenesis of myelodysplastic syndromes (MDS). This study describes a patient with a long-standing refractory autoinflammatory syndrome (AIS) that was ultimately diagnosed as TET-2-positive MDS. The patient showed unresponsive multisystemic autoinflammatory disease, hematological abnormalities, and characteristic vacuoles in myeloid- and erythroid progenitors. Genetic testing confirmed the diagnosis of VEXAS syndrome, a recently discovered disease characterized by somatic mutations of the UBA1 gene.
FRONTIERS IN IMMUNOLOGY
(2022)
