AI Article Synopsis
- X-linked agammaglobulinemia (XLA) is a genetic immunodeficiency disorder that affects the immune system.
- The study involves two 7-month-old identical male twins who experienced severe infections from Pseudomonas aeruginosa, initially presenting with oral conditions.
- Genetic testing revealed both twins had the same mutation (c.862C > T) in the BTK gene, confirming their diagnosis of XLA.
Article Abstract
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease. We reported two 7-month-old identical male twins with Pseudomonas aeruginosa sepsis who initially manifested as oral ecthyma gangrenosum and were finally diagnosed to have XLA. In both cases, we confirmed the c.862C > T BTK missense mutation in exon 10 at the SH2 domain.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jmii.2020.04.009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Antimicrobial Potential of a Formazanate-Based Mercury(II) Complex: in vitro- and in silico-based Insights.
Chempluschem
December 2024
Indian Institute of Technology Jodhpur, Chemistry, Jodhpur, 342037, Jodhpur, INDIA.
Herein, we present a distorted square pyramidal mercury complex, [HgII(L)Cl] (1), based on a quinoline-substituted formazan ligand LH[3-Cyano-1,5-(quinolin-8-yl)formazan], which was evaluated for its anti-bacterial activity in vitro. Complex 1 was prepared by refluxing 3-Cyano-1,5-(quinolin-8-yl)formazan ligand and mercury chloride(II) in equimolar quantity and was characterized utilizing a range of analytical methods, including single crystal X-ray diffraction (SCXRD) technique. The crystal packing in complex 1 has been elucidated using supramolecular investigations, which have shown the presence of fascinating Hg-Cl···Hg intermolecular spodium bonds of the order 3.
View Article and Find Full Text PDFDigital insights into Pseudomonas aeruginosa PBH03: in-silico analysis for genomic toolbox and unraveling cues for heavy metal bioremediation.
Genes Genomics
December 2024
School of Chemical Engineering and Biomolecular Engineering, Pusan National University, Busan, 46241, Republic of Korea.
Background: The genomes of publicly available electroactive Pseudomonas aeruginosa strains are currently limited to in-silico analyses. This study analyzed the electroactive Pseudomonas aeruginosa PBH03 genome using comparative in-silico studies for biotechnological applications.
Objective: Comparative in-silico and experimental analyses were conducted to identify the novel traits of P.
Antibacterial Lecithin/Chitosan Nanoparticles for the Sustained Release of Ciprofloxacin to Treat Ocular Bacterial Infections.
Chem Asian J
December 2024
Indian Institute of Technology Ropar, Department of Chemistry, Bara Phool, 140001, Rupnagar, INDIA.
Ocular drug-delivery is one of the most challenging areas owing to nature of ocular tissues. Various nanoformulations have been designed and investigated for drug-delivery to achieve high drug bioavailability. The major focus of preparations available in market is to utilize nanomaterial as drug-carrier, with less focus on developing functional-nanomaterials, which is a key knowledge gap in the field.
View Article and Find Full Text PDFExploiting gasdermin-mediated pyroptosis for enhanced antimicrobial activity of phage endolysin against .
mSystems
December 2024
Division of Medical Biology, Jan Kochanowski University in Kielce, Kielce, Poland.
Unlabelled: Pyroptosis is an inflammatory immune response of eukaryotic cells to bacterial lipopolysaccharide (LPS) and other pathological stimuli, leading to the activation of the gasdermin D (GSDMD) and secretion of pore-forming domain GSDMD, facilitating the release of cytokines. Additionally, GSDMD exhibits antibacterial properties through interactions with bacterial outer membranes (OM). We explored alternative antimicrobial strategy to determine whether inducing natural pyroptosis via GSDMD activation by LPS could enhance the effectiveness of recombinant phage endopeptidase KP27 (peptidoglycan-degrading enzyme) against , enabling penetration through OM and bacterial killing synergistically.
View Article and Find Full Text PDFpotentiation of tetracyclines in by RW01, a new cyclic peptide.
Antimicrob Agents Chemother
December 2024
Barcelona Institute for Global Health (ISGlobal), Barcelona, Spain.
The pipeline for new drugs against multidrug-resistant remains limited, highlighting the urgent need for innovative treatments. New strategies, such as membrane-targeting molecules acting as adjuvants, aim to enhance antibiotic effectiveness and combat resistance. RW01, a cyclic peptide with low antimicrobial activity, was selected as an adjuvant to enhance drug efficacy through membrane permeabilization.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!