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JOURNAL ARTICLE
Yingyi He, Hui Zhang, Chunjie Li, Xiaoling Su, Wenting Gan, Pengfei Wang, Weiqiang Xiao
We present the first infantile disseminated Bacillus Calmette-Guérin (BCG) disease case with STAT1 deficiency, which is manifested by multiple Langerhans cell histiocytosis-like osteolytic lesions. The diagnosis of BCG-induced osteomyelitis was not initially considered until the additional biopsy revealing granulomatous inflammation, a key pathological diagnostic component for mycobacterial infection.
November 2022: Open Forum Infectious Diseases
#22
JOURNAL ARTICLE
Fanghua Ye, Wen Zhang, Jiajia Dong, Min Peng, Chenying Fan, Wenjun Deng, Hui Zhang, Liangchun Yang
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital immune deficiency characterized by susceptibility to weakly virulent mycobacteria. Loss-of-function (LOF) mutation of signal transducer and activator of transcription 1 (<i>STAT1)</i> is one of the common genetic causes of MSMD. In this study, we identified a patient who presented with multiple lymph node enlargements and multiple osteolytic disruptions. <i>Mycobacterium gordonae</i> infection was confirmed by metagenomic next-generation sequencing...
2022: Frontiers in Cellular and Infection Microbiology
#23
JOURNAL ARTICLE
Alexander Varzari, Igor V Deyneko, Gitte Hoffmann Bruun, Maja Dembic, Winfried Hofmann, Victor M Cebotari, Sergei S Ginda, Brage S Andresen, Thomas Illig
Inborn errors of immunity are known to influence susceptibility to mycobacterial infections. The aim of this study was to characterize the genetic profile of nine patients with mycobacterial infections (eight with BCGitis and one with disseminated tuberculosis) from the Republic of Moldova using whole-exome sequencing. In total, 12 variants in eight genes known to be associated with Mendelian Susceptibility to Mycobacterial Disease (MSMD) were detected in six out of nine patients examined. In particular, a novel splice site mutation c...
2022: Frontiers in Genetics
#24
JOURNAL ARTICLE
Rintaro Ono, Miyuki Tsumura, Saho Shima, Yusuke Matsuda, Kenji Gotoh, Yurina Miyata, Yuko Yoto, Dan Tomomasa, Takanori Utsumi, Hidenori Ohnishi, Zenichiro Kato, Naruhiko Ishiwada, Aki Ishikawa, Taizo Wada, Hisashi Uhara, Ryuta Nishikomori, Daisuke Hasegawa, Satoshi Okada, Hirokazu Kanegane
PURPOSE: Heterozygous dominant-negative (DN) STAT1 variants are responsible for autosomal dominant (AD) Mendelian susceptibility to mycobacterial disease (MSMD). In this paper, we describe eight MSMD cases from four kindreds in Japan. METHODS: An inborn error of immunity-related gene panel sequencing was performed using genomic DNA extracted from whole blood samples. The identified variants were validated using Sanger sequencing. Functional analysis was evaluated with a luciferase reporter assay and co-transfection assay in STAT1-deficient cells...
November 7, 2022: Journal of Clinical Immunology
#25
Kosuke Noma, Yoko Mizoguchi, Miyuki Tsumura, Satoshi Okada
No abstract text is available yet for this article.
October 20, 2022: Clinical Microbiology and Infection
#26
Netsanet Azene Gebeyehu, Solomie Jebessa Deribessa, Freeman Alexandra, Messay Tesfaye Demissie, W Mihretu Gebre, Aklilu Melaku Gebremariam, Dagmawit Mitiku Engliz, Tizita Yosef Kidane, Lidya Million Bekele, Abate Yeshidinber Weldetsadik
Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized by vulnerability to less virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains, as well as environmental mycobacteria (EM). The definitive diagnosis is made by genetic analysis. Treatments constitute antimycobacterial, interferon-gamma, surgery, and hematopoietic stem cell transplantation (HSCT), which is the only known curative treatment...
2022: Case Reports in Infectious Diseases
#27
JOURNAL ARTICLE
Karolina Dolezalova, Tomas Strachan, Radoslav Matej, Dita Ricna, Marketa Bloomfield
BACKGROUND: Inborn errors of IL-12/IL-23-IFNγ immunity underlie Mendelian susceptibility to mycobacterial diseases (MSMD), a group of immunodeficiencies characterized by a highly selective susceptibility to weakly virulent strains of mycobacteria, such as non-tuberculous mycobacteria (NTM) and bacillus Calmette-Guérin (BCG). Cutaneous mycobacterial infections are common in MSMD and may represent a red flag for this immunodeficiency. OBJECTIVES: We present a case series of four paediatric patients with MSMD, specifically with IFNγR1 and STAT1 deficiencies, and cutaneous NTM/BCG infections to increase awareness of this immunodeficiency, which may, in some cases, be intercepted by the dermatologist and thus timely referred to the immunologist...
September 7, 2022: European Journal of Dermatology: EJD
#28
JOURNAL ARTICLE
Ana Karen Peñafiel Vicuña, Marco Yamazaki Nakashimada, Ximena León Lara, Elizabeth Mendieta Flores, María Enriqueta Nuñez Núñez, Juan Carlos Lona-Reyes, Leticia Hernández Nieto, María Guadalupe Ramírez Vázquez, Joel Barroso Santos, Álvaro López Iñiguez, Yolanda González, Martha Torres, José Luis Lezana Fernández, Carla M Román Montes, Edgar Alejandro Medina-Torres, Edith González Serrano, Juan Carlos Bustamante Ogando, Saúl Lugo Reyes, Oscar Zavaleta Martínez, Aidé Tamara Staines Boone, Edna Venegas Montoya, Nancy Evelyn Aguilar Gómez, Camille Soudeé, Emmanuelle Jouanguy, Anne Puel, Stéphanie Boisson-Dupuis, Sigifredo Pedraza Sánchez, Jean-Laurent Casanova, Francisco Espinosa Rosales, Sara Espinosa Padilla, Jacinta Bustamante, Lizbeth Blancas Galicia
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females...
August 31, 2022: Journal of Clinical Immunology
#29
JOURNAL ARTICLE
Xuemei Chen, Junjie Chen, Ran Chen, Huilin Mou, Gan Sun, Lu Yang, Yanjun Jia, Qin Zhao, Wen Wen, Lina Zhou, Yuan Ding, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao
PURPOSE: Mutations in signal transducer and activator of transcription 1 (STAT1) cause a broad spectrum of disease phenotypes. Heterozygous STAT1 loss-of-function (LOF) mutations cause Mendelian susceptibility to mycobacterial diseases (MSMD) infection, which is attributable to impaired IFN-γ signaling. The identification of novel mutations may extend the phenotypes associated with autosomal dominant (AD) STAT1 deficiency. METHODS: Five patients with heterozygous STAT1 variations were recruited and their clinical and immunologic phenotypes were analyzed, with particular reference to JAK-STAT1 signaling pathways...
August 17, 2022: Journal of Clinical Immunology
#30
JOURNAL ARTICLE
Ibtihal Benhsaien, Rui Yang, Fatima Ailal, Marc Weisshaar, Federico Mele, Jean-Laurent Casanova, Jacinta Bustamante, Ahmed Bousfiha
In this report, we have described a child suffering from Mendelian susceptibility to mycobacterial disease (MSMD) owing to an autosomal recessive, complete T-bet deficiency, which impairs IFN-γ production by innate and innate-like adaptive, but not mycobacterial-reactive purely adaptive lymphocytes. In this study, we explored the persistent upper airway inflammation (UAI) and blood eosinophilia in this patient. Unlike the wild-type (WT) T-bet, the mutant form of T-bet from this patient did not inhibit the production of T helper 2 (Th2) cytokines, including IL-4, IL-5, IL-9, and IL-13, when overexpressed in Th2 cells...
2022: Qatar Medical Journal
#31
JOURNAL ARTICLE
Paula T Lyra, Edvaldo Souza, Ana Carla A Moura, Marina C Matta, Leuridan C Torres, Antonio Victor Campos Coelho, Maria Ângela W Rocha, Luiz Arraes, João Bosco Oliveira
OBJECTIVE: The Bacille Calmette-Guérin (BCG) vaccine is routinely applied in Brazil. Adverse events (AE) may occur in patients with inborn or acquired immunodeficiencies, varying between local (BCGitis) or disseminated (BCGosis) reactions. We evaluated 53 individuals with local or disseminated adverse events to BCG vaccination to assess if they had inborn errors of immunity (IEI). METHODS: Patients diagnosed with an adverse event following BCG vaccination between 2014 and 2017 were included in the study...
July 30, 2022: Journal of Clinical Immunology
#32
JOURNAL ARTICLE
Frederik Staels, Flaminia Lorenzetti, Kerstin De Keukeleere, Mathijs Willemsen, Margaux Gerbaux, Julika Neumann, Thomas Tousseyn, Emanuela Pasciuto, Paul De Munter, Xavier Bossuyt, Rik Gijsbers, Adrian Liston, Stephanie Humblet-Baron, Rik Schrijvers
PURPOSE: Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. The most frequent genetic defects are found in IL12 or a subunit of its receptor. IL23R deficiency in MSMD has only been reported once, in two pediatric patients from the same kindred with isolated disseminated Bacille Calmette-Guérin disease. We evaluated the impact of a homozygous stop mutation in IL23R (R381X), identified by whole exome sequencing, in an adult patient with disseminated non-tuberculous mycobacterial disease...
July 13, 2022: Journal of Clinical Immunology
#33
JOURNAL ARTICLE
Beste Ozsezen, Ebru Yalçın, Dilber Ademhan Tural, Birce Sunman, Halime Nayır Buyuksahin, İsmail Guzelkas, Didem Alboga, Elif Soyak Aytekin, Saliha Esenboga, Nagehan Emiralioglu, Deniz Cagdas, Deniz Doğru, Uğur Özçelik, Ilhan Tezcan, Nural Kiper
OBJECTIVE: Bacillus Calmette-Guérin (BCG) vaccine derived from Mycobacterium bovis can cause BCG vaccine associated complications (BCG-VAC) especially in patients with primary immunodeficiencies (PID). No consensus exists for antimycobacterial prophylactic therapy for patients with PID who receive the BCG vaccine. AIM: This study aimed to define the risk factors in the development of BCG-VAC and effect of antimycobacterial prophylaxis in PID patients vaccinated with BCG...
June 16, 2022: Respiratory Medicine
#34
JOURNAL ARTICLE
Amit Rawat, Madhubala Sharma, Pandiarajan Vignesh, Ankur Kumar Jindal, Deepti Suri, Jhumki Das, Vibhu Joshi, Rahul Tyagi, Jyoti Sharma, Gurjit Kaur, Yu-Lung Lau, Kohsuke Imai, Shigeaki Nonoyama, Michael Lenardo, Surjit Singh
Inborn errors of immunity (IEI) are a heterogeneous group of monogenic disorders that include primary immunodeficiency's and other disorders affecting different aspects of the immune system. Next-Generation Sequencing (NGS) is an essential tool to diagnose IEI. We report our 3-year experience in setting up facilities for NGS for diagnosis of IEI in Chandigarh, North India. We used a targeted, customized gene panel of 44 genes known to result in IEI. Variant analysis was done using Ion Reporter software. The in-house NGS has enabled us to offer genetic diagnoses to patients with IEI at minimal costs...
June 21, 2022: Scientific Reports
#35
JOURNAL ARTICLE
Ewa Bernatowska, Małgorzata Pac, Edyta Heropolitańska-Pliszka, Barbara Pietrucha, Nel Dąbrowska-Leonik, Małgorzata Skomska-Pawliszak, Katarzyna Bernat-Sitarz, Katarzyna Krzysztopa-Grzybowska, Beata Wolska-Kuśnierz, Nadia Bohynikova, Ewa Augustynowicz, Ewa Augustynowicz-Kopeć, Maria Korzeniewska-Koseła, Anna Wieteska-Klimczak, Janusz Książyk, Teresa Jackowska, Mirjam van den Burg, Jean-Laurent Casanova, Capucine Picard, Bożena Mikołuć
Objective: We aimed to assess BCG (Bacillus Calmette-Guérin) complications in patients with Inborn Errors of Immunity (IEI), according to the inherited disorders and associated immunological defects, as well as the different BCG substrains. Material: We studied adverse reactions to the locally-produced BCG Moreau vaccine, analyzed in patients with IEI diagnosed between 1980 and 2020 in the Department of Immunology, Children's Memorial Health Institute (CMHI), Warsaw...
2022: Frontiers in Pediatrics
#36
JOURNAL ARTICLE
Alexandra Laberko, Daria Yukhacheva, Nelly Kan, Anna Roppelt, Anna Mukhina, Yulia Rodina, Dmitry Pershin, Aristine Cheng, Michail S Lionakis, Galina Solopova, Olga Kadnikova, Aleksandr Mushkin, Galina Novichkova, Anna Shcherbina
BACKGROUND: Bacillus Calmette-Guierin (BCG) vaccination complications are common in inborn errors of immunity (IEI) due to the inability to clear live-attenuated Mycobacterium bovis. Various BCG-vaccine strains are used worldwide, and the profile of the Russian BCG-strain vaccine complications in IEI is poorly characterised. OBJECTIVE: The present study aimed to evaluate risks of BCG-infection in a large cohort of IEI vaccinated with the Russian BCG-strain. METHODS: We evaluated 778 IEI patients vaccinated with the Russian BCG-strain...
April 22, 2022: Journal of Allergy and Clinical Immunology in Practice
#37
JOURNAL ARTICLE
Dan Tomomasa, Kay Tanita, Seishi Higashi, Yuri Tasaka, Takashi Shimamura, Urara Sakurai, Tomoyo Matsubara, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane
We encountered two patients with partial interferon γ receptor 1 (IFN-γR1) deficiency in whom early diagnosis enhanced disease management. Patient 1 was a 44-year-old woman with enlarged lymph nodes diagnosed in a pre-pregnancy checkup, and pathological examination revealed a Mycobacterium avium infection. Based on her history of unknown multiple osteomyelitis during early childhood, mendelian susceptibility to mycobacterial disease was suspected. Genetic analysis revealed a novel heterozygous variant in IFNGR1...
January 21, 2022: Clinical Immunology: the Official Journal of the Clinical Immunology Society
#38
JOURNAL ARTICLE
Yuko Tsujioka, Taiki Nozaki, Gen Nishimura, Osamu Miyazaki, Masahiro Jinzaki, Tatsuo Kono
OBJECTIVE: To report the clinical and imaging characteristics of BCG-osteomyelitis, and compare them with those of pyogenic osteomyelitis. MATERIALS AND METHODS: Clinical and imaging findings were retrospectively evaluated in 14 children with BCG osteomyelitis, including 3 with Mendelian susceptibility to mycobacterial diseases (MSMD), and in 40 children with pyogenic osteomyelitis, using Fisher exact and Mann-Whitney U tests. RESULTS: BCG-osteomyelitis was an indolent inflammatory disease of young children (mean age 15...
August 2022: Skeletal Radiology
#39
JOURNAL ARTICLE
H M Cornelissen, B Glanzmann, A Van Coller, C Engelbrecht, D R Abraham, K Reddy, M Möller, C Kinnear, R H Glashoff, M Esser
BACKGROUND: Severe infections in the absence of secondary immunodeficiency can alert clinicians to single-gene inborn errors of immunity/primary immunodeficiency disorders (PIDDs). Mendelian susceptibility to mycobacterial disease (MSMD) is characterised by selective susceptibility to mycobacterial infections due to inborn errors in the interleukin 12-interferon gamma pathway. The South African (SA) burden of hyperendemic tuberculosis (TB) infection provides an interesting context for the study of MSMD...
October 5, 2021: South African Medical Journal
#40
JOURNAL ARTICLE
Mahshid Movahedi, Mahnaz Jamee, Hosseinali Ghaffaripour, Farzad Noori, Mehdi Ghaini, Shabnam Eskandarzadeh, Javad Enayat, Golnaz Eslamian, Guitti Pourdowlat, Niusha Sharifinejad, Mihan Poorabdollah, Seyed Alireza Nadji, Mazdak Fallahi, Zahra Daneshmandi, Jalal Heshmatnia, Alireza Eslaminejad, Atefeh Fakharian, Maryam Vasheghani, Afshin Moniri, Maryam Sadat Mirenayat, Payam Tabarsi, Majid Marjani, Nima Rezaei, Mikko R J Seppänen, Davood Mansouri, Seyed Alireza Mahdaviani, Ali Akbar Velayati
BACKGROUND: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs. METHODS: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire...
2022: Allergologia et Immunopathologia
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