Search Results - "Lezana, José Luis"
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Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report
Published in BMC medical genomics (22-05-2019)“…Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican…”
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Effect of oral glycine on the clinical, spirometric and inflammatory status in subjects with cystic fibrosis: a pilot randomized trial
Published in BMC pulmonary medicine (15-12-2017)“…Patients with cystic fibrosis (CF) have airway inflammation that contributes to symptoms and to pulmonary function derangement. Current drugs used to diminish…”
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CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis
Published in Heliyon (15-04-2024)“…Molecular diagnosis of cystic fibrosis (CF) is challenging in Mexico due to the population's high genetic heterogeneity. To date, 46 pathogenic variants (PVs)…”
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Bacterial Subversion of Autophagy in Cystic Fibrosis
Published in Frontiers in cellular and infection microbiology (08-10-2021)“…Cystic fibrosis (CF) is a genetic disease affecting more than 70,000 people worldwide. It is caused by a mutation in the cftr gene, a chloride ion transporter…”
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Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis
Published in Frontiers in immunology (21-12-2018)“…is a commensal fungus that can cause disease ranging in severity from moderate to severe mucosal infections to more serious life-threating disseminated…”
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Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1
Published in Frontiers in immunology (06-12-2017)“…In humans, recessive loss-of-function mutations in are associated with mycobacterial and viral infections, whereas gain-of-function (GOF) mutations in are…”
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Sweat conductivity and chloride titration for cystic fibrosis diagnosis in 3834 subjects
Published in Journal of cystic fibrosis (01-03-2003)“…Sweat test is the standard for cystic fibrosis (CF) diagnosis. Conductivity is an alternative method not yet approved, in spite of its good correlation with…”
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Influence of SNPs in Genes that Modulate Lung Disease Severity in a Group of Mexican Patients with Cystic Fibrosis
Published in Archives of medical research (01-01-2018)“…The variation in cystic fibrosis (CF) lung disease not always is explained by the CFTR genotype, so it has become apparent that modifier genes must play a…”
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Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor beta 1 Deficiency
Published in Pediatrics (Evanston) (01-10-2010)“…Patients with interleukin 12 (IL-12)p40 or IL-12 receptor beta 1 (IL12R beta 1) deficiencies are prone to develop infections caused by mycobacteria and…”
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Pseudomonas Aeruginosa: Genetic Adaptation, A Strategy for its Persistence in Cystic Fibrosis
Published in Archives of medical research (01-05-2021)“…Cystic fibrosis (CF) is a progressive autosomal recessive genetic disease that principally affects the respiratory and digestive systems. It is a chronic…”
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Significance of Molecular Identification of Genomic Variants of Pseudomonas aeruginosa in Children with Cystic Fibrosis
Published in Archives of medical research (01-09-2022)“…Pseudomonas aeruginosa is a significant cause of lung infections in patients with cystic fibrosis (CF). Pseudomonas produces a chronic infection that increases…”
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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families
Published in Life (Basel, Switzerland) (07-11-2024)“…Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large…”
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Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico
Published in Journal of clinical immunology (01-01-2023)“…Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as…”
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Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis
Published in Revista de investigacion clinica (01-11-2013)“…Cystic fibrosis is a lethal autosomal recessive disease, commonly seen in Caucasian population. The World Health Organization (WHO) estimated that in Mexico,…”
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CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening
Published in Revista de investigacion clinica (01-11-2010)“…Cystic fibrosis, the most common autosomal recessive disorder, is caused by defects in the CF transmembrane conductance regulator gene (CFTR) that encodes a…”
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Mycobacterium infection in a pediatric patient with immunodeficiency by gain of function mutation in STAT1
Published in Frontiers in immunology (2015)“…Abstract only…”
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Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency
Published in Clinical infectious diseases (15-01-2014)“…Owing to impaired interleukin 17 immunity, interleukin 12βR1 (IL-12βR1)–deficient patients have mucocutaneous candidiasis, which is usually recurrent or…”
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Emergence of GES-19-producing Pseudomonas aeruginosa exoU+ belonging to the global high-risk clone ST235 in cystic fibrosis infection
Published in Diagnostic microbiology and infectious disease (01-09-2021)“…The emergence of high-risk clones of priority pathogens exhibiting convergence of antimicrobial resistance and virulence is a critical issue worldwide. In a…”
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Pseudomonas aeruginosa Isolates From a Cohort of Mexican Children With Cystic Fibrosis Show Adaptation to a Chronic Phenotype
Published in The Pediatric infectious disease journal (01-10-2020)“…BACKGROUND:Long-term persistence of Pseudomonas aeruginosa in the lung of individuals with cystic fibrosis (CF) is associated with progressive selection of…”
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Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor β1 Deficiency
Published in Pediatrics (Evanston) (01-10-2010)“…Patients with interleukin 12 (IL-12)p40 or IL-12 receptor β1 (IL12Rβ1) deficiencies are prone to develop infections caused by mycobacteria and salmonella;…”
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