Background And Aims: The prevalence of infections with Mycobacterium tuberculosis (MTB) and non-tuberculous mycobacteria (NTM) species in patients with immunodeficiencies in Mexico is unknown. The aim of this study was to identify, at the molecular level, the mycobacterial species most frequently affecting patients with immunodeficiencies and evaluate the genotypic diversity of MTB complex strains.
Methods: We conducted a retrospective study of 97 strains in patients with the diagnosis of pulmonary (all isolates were of pathological significance) or extrapulmonary tuberculosis. PCR analysis was performed to determine whether they belonged to the MTB complex (MTC) or the Mycobacterium avium complex (MAC). Noncharacterized NTM were sequenced and, finally, MTC were genotyped by MIRUs-VNTR and spoligotyping.
Results: Of the 97 mycobacterial strains isolated, 53% were M. tuberculosis, 10% M. bovis, 24% M. avium, 9% M. simiae, 2% M. kansasii and 2% M. gordonae. A great genetic diversity was found by MIRU-VNTR with the greatest polymorphism in MIRU 10, 16, 23 and 27. By spoligotyping, the predominant family was T1. Combining both methods, the association of 13 strains in four different groups was found.
Conclusions: This is the first molecular analysis of mycobacteria isolated from patients with immunodeficiencies in Mexico, describing the prevalence of different mycobacterial species in this population. A great genetic diversity of MTB strains was identified. This is also the first report in Mexico describing clinically important isolates of M. simiae.
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http://dx.doi.org/10.1016/j.arcmed.2013.09.002 | DOI Listing |
J Neurol
January 2025
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers.
View Article and Find Full Text PDFJ Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFRev Med Suisse
January 2025
Unité VIH/sida, Service des maladies infectieuses, Département de médecine, Hôpitaux universitaires de Genève, 1211 Genève 14.
The year 2024 saw many advances in HIV care, both in terms of treatment and prevention. The cure of a patient from Geneva made headlines and helped in understanding the complex immunology of the HIV virus. Long-acting injectable treatments improve the quality of life of peoplewith HIV (PWHIV) and area promising option for pre-exposure prophylaxis (PreP).
View Article and Find Full Text PDFComb Chem High Throughput Screen
January 2025
Thoracic and Abdominal Radiotherapy Department I, Meizhou People's Hospital, Meizhou 514031, Guangdong, China.
Background: TSPOAP1 antisense RNA 1 (TSPOAP1-AS1) is a long non-coding RNA (lncRNA) that has received widespread attention in oncology research in recent years. Its role and mechanism in some cancers have gradually been revealed. However, it is not clear what role TSPOAP1-AS1 plays in cervical cancer (CESC).
View Article and Find Full Text PDFWorld J Gastroenterol
January 2025
Department of Surgery, University Hospital of Larissa, Larissa 41334, Greece.
Autoimmune enteropathy (AIE) is a rare immune mediated disorder primarily affecting children, characterized by chronic diarrhea, malabsorption, vomiting, weight loss and villous atrophy. It has also been observed in adults presenting diagnostic and treatment challenges due to its overlap with other gastrointestinal disorders such as celiac disease. Initial diagnostic criteria for AIE include small bowel villous atrophy, lack of response to dietary restrictions, presence of anti-enterocyte antibodies, and predisposition to autoimmunity without severe immunodeficiency.
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