ABSTRACT
PURPOSE: Mendelian suceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing to severe disease caused by mycobacteria and other intracellular pathogens. Delay in diagnosis can have an impact on the patient's prognosis. METHODS: We evaluated the IFN-γ circuit by studying IFN-γ production after mycobacterial challenge as well as IL-12Rß1 expression and STAT4 phosphorylation in response to IL-12p70 stimulation in whole blood of a 6-year-old Peruvian girl with disseminated recurrent mycobacterial infection diagnosed as multidrug-resistant tuberculosis. Genetic studies with Sanger sequencing were used to identify the causative mutation. Microbiological studies based on PCR reactions were used to diagnose the specific mycobacterial species. RESULTS: We identified a homozygous mutation in the IL12RB1 gene (p. Arg211*) causing abolished expression of IL-12Rß1 and IL-12 response. MSMD diagnosis led to a microbiological reevaluation of the patient, revealing a BCG vaccine-related infection instead of tuberculosis. Treatment was then adjusted, with good response. CONCLUSIONS: We report the first Peruvian patient with IL-12Rß1 deficiency. Specific mycobacterial species diagnosis within Mycobacterium tuberculosis complex is still challenging in countries with limited access to PCR-based microbiological diagnostic techniques. Awareness of MSMD warning signs and accurate microbiological diagnosis of mycobacterial infections are of the utmost importance for optimal diagnosis and management of affected patients.
Subject(s)
BCG Vaccine/immunology , Disease Susceptibility , Mycobacterium tuberculosis/immunology , Receptors, Interleukin-12/deficiency , Tuberculosis, Multidrug-Resistant/genetics , Tuberculosis, Multidrug-Resistant/immunology , Antitubercular Agents/pharmacology , Antitubercular Agents/therapeutic use , Child , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Humans , Male , Mutation , Mycobacterium tuberculosis/drug effects , Peru , Prognosis , Severity of Illness Index , Tuberculosis, Multidrug-Resistant/diagnosis , Tuberculosis, Multidrug-Resistant/microbiologyABSTRACT
This paper concerns the preparation of novel electrorheological (ER) materials using microwave-assisted synthesis as well as utilizing a suitable shell-providing system with enhanced ER performance. Lithium titanate nanoparticles were successfully synthesized, and their composition was confirmed via X-ray diffraction. Rheological properties were investigated in the absence as well as in the presence of an external electric field. Dielectric properties clarified the response of the particles to the application of an electric field. The urea-coated lithium titanate nanoparticle-based suspension exhibits higher ER performance in comparison to suspensions based on bare particles.
