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Soud M S Deek, Abdalhakim R M Shubietah, Yazid Atatri, Mohab Najjar, Zaid Zakaria, Nours Abu Tayyem, Lanah Habayeb, Mosab Maree, Haytham AbuMohsen
INTRODUCTION: Blau syndrome (BS) and juvenile dermatomyositis (JDM) are distinct conditions with different pathophysiological mechanisms. Accurate diagnosis of BS can be challenging due to overlapping clinical features with other inflammatory conditions. This case is being reported to highlight a pediatric case initially diagnosed with JDM, and subsequently found to have BS through genetic testing. CASE PRESENTATION: We present the case of a 4-year-old Arab male initially diagnosed with JDM based on skin manifestations, negative histology for another disease, and no other clinical features suggestive of an alternate diagnosis...
September 2023: Annals of Medicine and Surgery
#22
JOURNAL ARTICLE
Bashayr M Alotaibi, Raquel Lopez Rodriguez, Carmen Venegas Garrido, Lucia Gonzalez Bravo, Nader Khalidi, Parameswaran Nair
BACKGROUND: Respiratory conditions, such as asthma, are infrequently associated with auto-inflammatory diseases. We describe five patients with uncontrolled respiratory symptoms that were seen at St. Joesph's Healthcare in Hamilton for severe asthma management diagnosed with rare autoinflammatory conditions using genetic molecular analysis. CASE PRESENTATION: Five patients are included in this case series. Gene mutations associated with familial Mediterranean fever, Yao syndrome, Cryopyrin-associated periodic syndrome, and Majeed syndrome were considered to explain partly the patient's clinical manifestation after comprehensive clinical, biochemical, hematological investigations ruled out other disorders such as parasitosis, Allergic Bronchopulmonary Fungosis, Eosinophilic Granulomatosis with Poly Angitis, IgG4 disease, and Hypereosinophilia syndrome...
August 29, 2023: Allergy, Asthma, and Clinical Immunology
#23
JOURNAL ARTICLE
Ritasman Baisya, Ramesh Manthri, Mudit Tyagi, Shantveer G Uppin, Liza Rajasekhar
OBJECTIVE: Blau syndrome (BS), considered a rare pediatric autoinflammatory disease, is characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a tale of three families visited in our outpatient department in the last two years (2020-2022) where more than one member was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or genetic mutation at NOD2 gene suggesting the diagnosis of BS. CASE SERIES: The first family had three affected members where the mother and her two children had skin changes, polyarthritis and a pathogenic mutation in NOD2 gene (exon 4, c...
August 19, 2023: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#24
Fangling Yao, Bei Tan, Di Wu, Min Shen
BACKGROUND: Blau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS. This study aims to describe the clinical features of BS patients with hypertension and digestive system involvement. METHODS: The complete clinical data of a BS patient complicated with hypertension and hepatic granulomas were collected and documented...
2023: Frontiers in Pediatrics
#25
JOURNAL ARTICLE
Yoko Ueki, Riko Takimoto-Ito, Megumu K Saito, Hideaki Tanizaki, Naotomo Kambe
INTRODUCTION: Blau syndrome is a rare autosomal dominant autoinflammatory granulomatous disease caused by a mutation in the NOD2 gene. It is characterized by a clinical trial of granulomatous dermatitis, arthritis, and uveitis. Tofacitinib is a pan Janus kinase (JAK) inhibitor used for treatment of Blau syndrome and idiopathic sarcoidosis. Here, we evaluated its effect on inflammatory pathways associated with Blau syndrome. The effect of tofacitinib on downstream pathways regulated by mutant NOD2 was analyzed using luciferase assays with overexpression of NOD2 mutants...
2023: Frontiers in Immunology
#26
JOURNAL ARTICLE
Miao Liu, Yong Zeng, Jie Zhong
BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS...
June 30, 2023: Journal of Medical Case Reports
#27
JOURNAL ARTICLE
Lylach Haizler-Cohen, Ana Collins, Dana Michelle Kaplan, Priyadarshani Giri, Adi Davidov, Jonathan Blau, Gary Fruhman
To describe our experience with universal urine drug screening (UDS) with rapid confirmation (RC) via liquid chromatography mass spectrometry (LC-MS) before infant's discharge, in efforts to increase detection of neonates at risk of Neonatal Opioid Withdrawal Syndrome (NOWS) while reducing patient burden related to false positive results. Two-phase retrospective study of all pregnant women admitted to our labor and delivery (L&D) unit before (phase 1, 4/2018-3/2019) and after (phase 2, 10/2019-9/2020) RC of UDS was initiated...
June 27, 2023: American Journal of Perinatology
#28
REVIEW
Dominique Valeyre, Michel Brauner, Jean-François Bernaudin, Etienne Carbonnelle, Boris Duchemann, Cécile Rotenberg, Ingrid Berger, Antoine Martin, Hilario Nunes, Jean-Marc Naccache, Florence Jeny
Diagnosing pulmonary sarcoidosis raises challenges due to both the absence of a specific diagnostic criterion and the varied presentations capable of mimicking many other conditions. The aim of this review is to help non-sarcoidosis experts establish optimal differential-diagnosis strategies tailored to each situation. Alternative granulomatous diseases that must be ruled out include infections (notably tuberculosis, nontuberculous mycobacterial infections, and histoplasmosis), chronic beryllium disease, hypersensitivity pneumonitis, granulomatous talcosis, drug-induced granulomatosis (notably due to TNF-a antagonists, immune checkpoint inhibitors, targeted therapies, and interferons), immune deficiencies, genetic disorders (Blau syndrome), Crohn's disease, granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, and malignancy-associated granulomatosis...
2023: Frontiers in Medicine
#29
Zhiyan Wang, Mingdong Yang, Qunqun Zhang, Suhua Zhang, Haifang Sui, Jiane Liu, Qingrui Yang
Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical history and genetic analysis. This case report will further help clinicians to be aware of this rare clinical entity for correct diagnosis and proper treatment...
May 29, 2023: International Journal of Rheumatic Diseases
#30
JOURNAL ARTICLE
Marie Luise Hütter-Krönke, Adela Neagoie, Igor Wolfgang Blau, Verena Wais, Lam Vuong, Andrea Gantner, Johann Ahn, Olaf Penack, Jacqueline Schnell, Klaus Axel Nogai, Bettina Eberspächer, Maral Saadati, Axel Benner, Lars Bullinger, Hartmut Döhner, Donald Bunjes, Elisa Sala
INTRODUCTION: Vaccination against severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) is approved and recommended for immunocompromised patients such as patients after allogeneic stem cell transplantation (allo-SCT). Since infections represent a relevant cause of transplant related mortality we analyzed the advent of immunization to SARS-CoV-2 vaccination in a bicentric population of allogeneic transplanted patients. METHODS: We retrospectively analyzed data of allo-SCT recipients in two German transplantation centers for safety and serologic response after two and three SARS-CoV-2 vaccinations...
2023: Frontiers in Immunology
#31
Gayathri Nagaraj, Shaveta Vinayak, Ali Raza Khaki, Tianyi Sun, Nicole M Kuderer, David M Aboulafia, Jared D Acoba, Joy Awosika, Ziad Bakouny, Nicole B Balmaceda, Ting Bao, Babar Bashir, Stephanie Berg, Mehmet A Bilen, Poorva Bindal, Sibel Blau, Brianne E Bodin, Hala T Borno, Cecilia Castellano, Horyun Choi, John Deeken, Aakash Desai, Natasha Edwin, Lawrence E Feldman, Daniel B Flora, Christopher R Friese, Matthew D Galsky, Cyndi J Gonzalez, Petros Grivas, Shilpa Gupta, Marcy Haynam, Hannah Heilman, Dawn L Hershman, Clara Hwang, Chinmay Jani, Sachin R Jhawar, Monika Joshi, Virginia Kaklamani, Elizabeth J Klein, Natalie Knox, Vadim S Koshkin, Amit A Kulkarni, Daniel H Kwon, Chris Labaki, Philip E Lammers, Kate I Lathrop, Mark A Lewis, Xuanyi Li, Gilberto de Lima Lopes, Gary H Lyman, Della F Makower, Abdul-Hai Mansoor, Merry-Jennifer Markham, Sandeep H Mashru, Rana R McKay, Ian Messing, Vasil Mico, Rajani Nadkarni, Swathi Namburi, Ryan H Nguyen, Taylor Kristian Nonato, Tracey Lynn O'Connor, Orestis A Panagiotou, Kyu Park, Jaymin M Patel, Kanishka GopikaBimal Patel, Jeffrey Peppercorn, Hyma Polimera, Matthew Puc, Yuan James Rao, Pedram Razavi, Sonya A Reid, Jonathan W Riess, Donna R Rivera, Mark Robson, Suzanne J Rose, Atlantis D Russ, Lidia Schapira, Pankil K Shah, M Kelly Shanahan, Lauren C Shapiro, Melissa Smits, Daniel G Stover, Mitrianna Streckfuss, Lisa Tachiki, Michael A Thompson, Sara M Tolaney, Lisa B Weissmann, Grace Wilson, Michael T Wotman, Elizabeth M Wulff-Burchfield, Sanjay Mishra, Benjamin French, Jeremy L Warner, Maryam B Lustberg, Melissa K Accordino, Dimpy P Shah
BACKGROUND: Limited information is available for patients with breast cancer (BC) and coronavirus disease 2019 (COVID-19), especially among underrepresented racial/ethnic populations. METHODS: This is a COVID-19 and Cancer Consortium (CCC19) registry-based retrospective cohort study of females with active or history of BC and laboratory-confirmed severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection diagnosed between March 2020 and June 2021 in the US...
March 10, 2023: medRxiv
#32
Ilhan Esse, Colin Kincaid, Luke Horton, Justin D Arnold, Natasha A Mesinkovska
No abstract text is available yet for this article.
May 2023: JAAD Case Reports
#33
REVIEW
Coad Thomas Dow, Nancy W Lin, Edward D Chan
Clinical and histological similarities between sarcoidosis and tuberculosis have driven repeated investigations looking for a mycobacterial cause of sarcoidosis. Over 50 years ago, "anonymous mycobacteria" were suggested to have a role in the etiology of sarcoidosis. Both tuberculosis and sarcoidosis have a predilection for lung involvement, though each can be found in any area of the body. A key histopathologic feature of both sarcoidosis and tuberculosis is the granuloma-while the tuberculous caseating granuloma has an area of caseous necrosis with a cheesy consistency; the non-caseating granuloma of sarcoidosis does not have this feature...
March 24, 2023: Microorganisms
#34
JOURNAL ARTICLE
Sana Mahtab, Shabir A Madhi, Vicky L Baillie, Toyah Els, Bukiwe Nana Thwala, Dickens Onyango, Beth A Tippet-Barr, Victor Akelo, Kitiezo Aggrey Igunza, Richard Omore, Shams El Arifeen, Emily S Gurley, Muntasir Alam, Atique Iqbal Chowdhury, Afruna Rahman, Quique Bassat, Inacio Mandomando, Sara Ajanovic, Antonio Sitoe, Rosauro Varo, Samba O Sow, Karen L Kotloff, Henry Badji, Milagritos D Tapia, Cheick B Traore, Ikechukwu U Ogbuanu, James Bunn, Ronita Luke, Sulaiman Sannoh, Alim Swarray-Deen, Nega Assefa, J Anthony G Scott, Lola Madrid, Dadi Marami, Surafel Fentaw, Maureen H Diaz, Roosecelis B Martines, Robert F Breiman, Zachary J Madewell, Dianna M Blau, Cynthia G Whitney
Each year, 2.4 million children die within their first month of life. Child Health and Mortality Prevention Surveillance (CHAMPS) established in 7 countries aims to generate accurate data on why such deaths occur and inform prevention strategies. Neonatal deaths that occurred between December 2016 and December 2021 were investigated with MITS within 24-72 hours of death. Testing included blood, cerebrospinal fluid and lung cultures, multi-pathogen PCR on blood, CSF, nasopharyngeal swabs and lung tissue, and histopathology examination of lung, liver and brain...
2023: PLOS Glob Public Health
#35
REVIEW
Anh-Tuan Pham, Amanda Franceschini Ghilardi, Lijun Sun
Receptor-interacting serine/threonine kinase 2 (RIPK2) is a vital immunomodulator that plays critical roles in nucleotide-binding oligomerization domain 1 (NOD1), NOD2, and Toll-like receptors (TLRs) signaling. Stimulated NOD1 and NOD2 interact with RIPK2 and lead to the activation of nuclear factor kappa B (NF-κB) and mitogen-activated protein kinases (MAPK), followed by the production of pro-inflammatory cytokines such as TNF-α, IL-6, and IL-12/23. Defects in NOD/RIPK2 signaling are associated with numerous inflammatory diseases, including asthma, sarcoidosis, inflammatory bowel disease (Crohn's disease and ulcerative colitis), multiple sclerosis, and Blau syndrome...
2023: Frontiers in Pharmacology
#36
REVIEW
Qiaoqian Zeng, Haimei Liu, Guomin Li, Yifan Li, Wanzhen Guan, Tao Zhang, Yinv Gong, Xiaomei Zhang, Qianying Lv, Bingbing Wu, Hong Xu, Li Sun
BACKGROUND: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. Vascular involvement is a rare phenotype in Blau syndrome patients. In this study, we aimed to describe a 20-year- old Chinese girl with Blau syndrome complicated by renal arteritis. In addition, we summarized a literature review of published cases of vascular involvement in patients with Blau syndrome. CASE PRESENTATION: We describe a 20-year-old girl who was initially misdiagnosed with juvenile idiopathic arthritis (JIA) almost 15 years prior...
March 13, 2023: Pediatric Rheumatology Online Journal
#37
REVIEW
Heidi M Soeters, Reena H Doshi, Monica Fleming, Oluwasegun Joel Adegoke, Uzoamaka Ajene, Brooke Noel Aksnes, Sarah Bennett, Erin F Blau, Julie Garon Carlton, Sara Clements, Laura Conklin, Melissa Dahlke, Lindsey M Duca, Leora R Feldstein, Jane F Gidudu, Gavin Grant, Margaret Hercules, Ledor S Igboh, Atsuyoshi Ishizumi, Sara Jacenko, Yinka Kerr, Nuadum M Konne, Shibani Kulkarni, Archana Kumar, Kathryn E Lafond, Eugene Lam, Ashley T Longley, Margaret McCarron, Apophia Namageyo-Funa, Nancy Ortiz, Jaymin C Patel, Robert T Perry, Dimitri Prybylski, Prianca Reddi, Omar Salman, Courtney N Sciarratta, Talya Shragai, Akshita Siddula, Ester Sikare, Dieula Delissaint Tchoualeu, Denise Traicoff, Alexandra Tuttle, Kerton R Victory, Aaron Wallace, Kirsten Ward, Man Kai Alyssa Wong, Weigong Zhou, W William Schluter, David L Fitter, Anthony Mounts, Joseph S Bresee, Terri B Hyde
The US Centers for Disease Control and Prevention (CDC) supports international partners in introducing vaccines, including those against SARS-CoV-2 virus. CDC contributes to the development of global technical tools, guidance, and policy for COVID-19 vaccination and has established its COVID-19 International Vaccine Implementation and Evaluation (CIVIE) program. CIVIE supports ministries of health and their partner organizations in developing or strengthening their national capacities for the planning, implementation, and evaluation of COVID-19 vaccination programs...
October 2022: Emerging Infectious Diseases
#38
JOURNAL ARTICLE
C H Zhang, M S Ma, W Wang, S Jian, L Wang, J Li, X Y Tang, Y Zhang, M Y Quan, L J Zhang, H M Song
Objective: To summarize the clinical characteristics and provide clues for early identification of non-inflammasome related conditions. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 49 children with non-inflammasome related conditions in Peking Union Medical College Hospital from January 2006 to February 2022 were retrospectively analyzed. Results: A total of 49 children, 29 of them were boys and 20 were girls. The age of onset was 0.8 (0.3, 1.6) years, the age at diagnosis was 5...
December 2, 2022: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#39
JOURNAL ARTICLE
Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, Justin Reese
AIMS: Studies suggest that metformin is associated with reduced COVID-19 severity in individuals with diabetes compared to other antihyperglycemics. We assessed if metformin is associated with reduced incidence of severe COVID-19 for patients with prediabetes or polycystic ovary syndrome (PCOS), common diseases that increase the risk of severe COVID-19. METHODS: This observational, retrospective study utilized EHR data from 52 hospitals for COVID-19 patients with PCOS or prediabetes treated with metformin or levothyroxine/ondansetron (controls)...
November 15, 2022: Diabetes Research and Clinical Practice
#40
JOURNAL ARTICLE
Shao-Yu Chang, Naotomo Kambe, Wen-Lang Fan, Jing-Long Huang, Wen-I Lee, Chao-Yi Wu
BACKGROUND: Blau syndrome (BS) is a rare autoinflammatory disorder with NOD2 gain-of-function mutation and characterized by autoactivation of the NFκB pathway. Classically considered a disease of high penetrance, reports on NOD2 mutations underlining BS with incomplete penetrance is limited. CASE PRESENTATION: The proband is a 9-year-old girl presented with brownish annular infiltrative plaques and symmetric boggy polyarthritis over bilateral wrists and ankles...
October 3, 2022: Pediatric Rheumatology Online Journal
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