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Bcg infection gene mutation

Thais Louvain de Souza, Regina C de Souza Campos Fernandes, Juliana Azevedo da Silva, Vladimir Gomes Alves Júnior, Adelia Gomes Coelho, Afonso C Souza Faria, Nabia M Moreira Salomão Simão, João T Souto Filho, Caroline Deswarte, Stéphanie Boisson-Dupuis, Dara Torgerson, Jean-Laurent Casanova, Jacinta Bustamante, Enrique Medina-Acosta
Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by mycobacteria and other intramacrophagic bacteria (e.g., Salmonella and Klebsiella) and fungi (e.g., Histoplasma, Candida, Paracoccidioides, Coccidioides, and Cryptococcus). The hallmark of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or the lack of response to it. Mutations in the interleukin (IL)-12 receptor subunit beta 1 (IL12RB1) gene accounts for 38% of cases of MSMD...
2017: Frontiers in Microbiology
Jing Wu, Wei-Fan Wang, Yi-Dan Zhang, Tong-Xin Chen
Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. Nowadays, little is known about Chinese CGD patients. Here we report 48 CGD patients in our single center study, which is the largest cohort study from Mainland China. The ratio of male to female was 11 : 1. The mean onset age was 0.29 years old, and 52% patients had an onset within the 1st month of life. The mean diagnosis age was 2...
2017: Journal of Immunology Research
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 2017: Journal of Clinical Immunology
Maryam Alinejad Dizaj, Seyed Alireza Mahdaviani, Payam Tabarsi, Hamed Ahari, Ahmad Ebrahimi, Seyed Alireza Nadji, Habib Emami, Esmaeil Mortaz
An association between a hypercoagulable state and Mendelian susceptibility to mycobacterial disease (MSMD) has been established in a few studies; resultant thrombosis is considered rare. In a case-control study, the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C mutations were investigated in mycobacterium-infected patients. The study comprised 30 patients with mycobacterial infections (invasive, disseminated and/or recurrent infections with Bacille Calmette-Guerin or non-tuberculosis mycobacteria and Mycobacterium Tuberculosis with positive results for acid-fast bacilli and tuberculin skin tests) and 30 normal healthy controls...
October 2016: Microbiology and Immunology
Maikel Boot, Marion Sparrius, Kin Ki Jim, Susanna Commandeur, Alexander Speer, Robert van de Weerd, Wilbert Bitter
Tuberculosis can be treated with a 6-month regimen of antibiotics. Although the targets of most of the first-line antibiotics have been identified, less research has focused on the intrabacterial stress responses that follow upon treatment with antibiotics. Studying the roles of these stress genes may lead to the identification of crucial stress-coping mechanisms that can provide additional drug targets to increase treatment efficacy. A three-gene operon with unknown function that is strongly up-regulated upon treatment with isoniazid and ethambutol is the iniBAC operon...
September 16, 2016: Journal of Biological Chemistry
Vijjamarri Anil Kumar, Rajni Goyal, Roohi Bansal, Nisha Singh, Ritesh Rajesh Sevalkar, Ashwani Kumar, Dibyendu Sarkar
Attenuation of Mycobacterium bovis BCG strain is related to the loss of the RD1-encoded ESX-1 secretion system. The ESX-1 system secretes virulence factor ESAT-6 that plays a critical role in modulation of the host immune system, which is essential for establishment of a productive infection. Previous studies suggest that among the reasons for attenuation of Mycobacterium tuberculosis H37Ra is a mutation in the phoP gene that interferes with the ESX-1 secretion system and inhibits secretion of ESAT-6. Here, we identify a totally different and distinct regulatory mechanism involving PhoP and transcription regulator EspR on transcriptional control of the espACD operon, which is required for ESX-1-dependent ESAT-6 secretion...
September 2, 2016: Journal of Biological Chemistry
Hua Yang, Haipeng Liu, Hao Chen, Haiping Mo, Jianxia Chen, Xiaocheng Huang, Ruijuan Zheng, Zhonghua Liu, Yonghong Feng, Feng Liu, Baoxue Ge
Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis, invades and replicates within susceptible hosts by disturbing host antimicrobial mechanisms. Although G protein-coupled receptors (GPCRs) are involved in most physiological and pathological activities of mammalian cells, the roles of GPCRs in Mtb invasion into host cell remain elusive. Here, we report that GPR160 expression is elevated at both mRNA and protein level in macrophages in response to BCG infection. Both the PiggyBac (PB) transposon-mediated mutation of gpr160 gene in mouse primary macrophages and siRNA-mediated knockdown of GPR160 in the human macrophage cell line THP-1 markedly reduced the entry of green fluorescent protein (GFP) expressing BCG (BCG-GFP), also operative in vivo...
September 2016: Cellular Signalling
Shokouh Azam Sarrafzadeh, Maryam Mahloojirad, Maryam Nourizadeh, Jean-Laurent Casanova, Zahra Pourpak, Jacinta Bustamante, Mostafa Moin
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis...
March 2016: Iranian Journal of Public Health
Shokouh Azam Sarrafzadeh, Maryam Mahloojirad, Maryam Nourizadeh, Jean-Laurent Casanova, Zahra Pourpak, Jacinta Bustamante, Mostafa Moin
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis...
February 2016: Iranian Journal of Public Health
Ezgi Ulusoy, Neslihan Edeer Karaca, Elif Azarsiz, Afig Berdeli, Guzide Aksu, Necil Kutukculer
BACKGROUND: Severe combined immunodeficiency (SCID) syndromes are a heterogenous group of diseases characterized by impairment in both cellular and humoral immunity with a range of genetic disorders. Complete recombinase activating gene (RAG) deficiency is associated with classical T(-)B(-)NK(+) SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of γδ T cells, autoimmunity and cytomegalovirus (CMV) infections...
May 2016: Journal of Clinical Medicine Research
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette- Guérin (BCG) vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, Nine genes including 7 autosomal (STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15 and IRF8) and two X-linked genes (NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about eighteen genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant INF-γ mediated immunity...
March 28, 2016: Pediatric and Developmental Pathology
Maria Chiriaco, Immacolata Brigida, Paola Ariganello, Silvia Di Cesare, Gigliola Di Matteo, Francesco Taus, Davide Cittaro, Dejan Lazarevic, Alessia Scarselli, Veronica Santilli, Enrico Attardi, Elia Stupka, Stefania Giannelli, Maurizio Fraziano, Andrea Finocchi, Paolo Rossi, Alessandro Aiuti, Paolo Palma, Caterina Cancrini
Activated PI3-kinase delta syndrome (APDS) was recently reported as a novel primary immunodeficiency caused by heterozygous gain-of-function mutations in PIK3CD gene. Here we describe immunological studies in a 19year old APDS patient for whom genetic diagnosis was discovered by Whole Exome Sequencing (WES) analysis. In addition to the progressive lymphopenia and defective antibody production we showed that the ability of the patient's B cells to differentiate in vitro is severely reduced. An in depth analysis of the myeloid compartment showed an increased expression of CD83 activation marker on monocytes and mono-derived DC cells...
December 28, 2015: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Edgar Borges de Oliveira-Junior, Nuria Bengala Zurro, Carolina Prando, Otavio Cabral-Marques, Paulo Vitor Soeiro Pereira, Lena-Friederick Schimke, Stefanie Klaver, Marcia Buzolin, Lizbeth Blancas-Galicia, Leopoldo Santos-Argumedo, Dino Roberto Pietropaolo-Cienfuegos, Francisco Espinosa-Rosales, Alejandra King, Ricardo Sorensen, Oscar Porras, Persio Roxo-Junior, Wilma Carvalho Neves Forte, Julio Cesar Orellana, Alejandro Lozano, Miguel Galicchio, Lorena Regairaz, Anete Sevciovic Grumach, Beatriz Tavares Costa-Carvalho, Jacinta Bustamante, Liliana Bezrodnik, Matias Oleastro, Silvia Danielian, Antonio Condino-Neto
AIM: We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. RESULTS: Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD diagnosis was 52.7 months. Recurrent pneumonia was the most frequent clinical condition (76...
December 2015: Pediatric Blood & Cancer
Cengiz Çavuşoğlu, Neslihan Edeer Karaca, Elif Azarsız, Ezgi Ulusoy, Necil Kütükçüler
It is well known that disseminated Mycobacterium bovis BCG infection is developed after BCG vaccination in infants with congenital cellular immune deficiencies such as mutations in genes along the interleukin (IL)-12/interferon (IFN)-γ pathway and mutations in nuclear factor-kB essential modulator (NEMO). In this report, a rifampicin-resistant M.bovis BCG strain isolated from an infant with NEMO defect was presented. An 8-month-old male infant with NEMO defect admitted to the pediatric outpatient clinic of our hospital with fever, generalized lymphadenopathy and hepatosplenomegaly...
April 2015: Mikrobiyoloji Bülteni
Varun K Sharma, Gautham Pai, Caroline Deswarte, Rakesh Lodha, Sarman Singh, Liew Woei Kang, Chong Chia Yin, Jean-Laurent Casanova, Jacinta Bustamante, Sushil K Kabra
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe here a patient from India with disseminated infection due to Mycobacterium avium intracellulare (MAC) including multifocal osteomyelitis and BCG disease...
July 2015: Journal of Clinical Immunology
Olga Danilchanka, David Pires, Elsa Anes, Michael Niederweis
Mycobacterium tuberculosis, the causative agent of tuberculosis, is protected from toxic solutes by an effective outer membrane permeability barrier. Recently, we showed that the outer membrane channel protein CpnT is required for efficient nutrient uptake by M. tuberculosis and Mycobacterium bovis BCG. In this study, we found that the cpnT mutant of M. bovis BCG is more resistant than the wild type to a large number of drugs and antibiotics, including rifampin, ethambutol, clarithromycin, tetracycline, and ampicillin, by 8- to 32-fold...
April 2015: Antimicrobial Agents and Chemotherapy
Biman Saikia, Deepti Suri, Shubham Goel, Amit Rawat, Ranjana W Minz, Anju Gupta, Sudha Sharma, Osamu Ohara, Kohsuke Imai, Shigeaki Nonoyama, Shobha Sehgal, Surjit Singh
BACKGROUND: Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by the triad of elevated IgE and eosinophilia, eczema and recurrent skin and pulmonary infections. Mutation in the STAT3 gene accounts for majority of the autosomal dominant and sporadic forms of HIES. OBJECTIVE: To report clinical and molecular analyses of patients with Hyper IgE syndrome from a single tertiary care center in India. METHODS: Four patients with suspected HIES were studied...
December 2014: Asian Pacific Journal of Allergy and Immunology
Alexis Strickler, Amir Pérez, Migdy Risco, Silvanna Gallo
BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case...
August 2014: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
Quan Wang, Wen Xia, Deyu Zhao
OBJECTIVE: To analyze the clinical manifestation of interferon gamma receptor 1 deficiency (IFN-γR1 deficiency) and to improve the recognition of this disease in children, decrease diagnostic errors and missed diagnosis. METHOD: The information of one case with IFN-γR1 deficiency (past history of illness, clinical manifestation, laboratory examination and treatment) were analyzed. RESULT: The patient was a 19-month-old girl with IFN-γR1 deficiency, 1-2 weeks after she was vaccinated with BCG at the age of 18 months, she manifested with lymph nodes at the same site as vaccination site, and repeated rash...
May 2014: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Huan Xu, Wen Tian, Shu-Juan Li, Lu-Ying Zhang, Wei Liu, Yao Zhao, Zhi-Yong Zhang, Xue-Mei Tang, Mo Wang, Dao-Qi Wu, Ji-Sheng Shi, Yuan Ding, Xiao-Dong Zhao, Xi-Qiang Yang, Li-Ping Jiang
PURPOSE: Chronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of children with CGD in China. Therefore, in this study, we described the clinical and molecular features of 38 suspected CGD patients from 36 unrelated Chinese families. METHODS: Clinical diagnosis was performed using dihydrorhodamine assays detected by flow cytometry...
August 2014: Journal of Clinical Immunology
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