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Chronic Granulomatous Disease - Crossref

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Last Updated: 19 June 2022

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Birth of a Healthy Histocompatible Sibling following Preimplantation Genetic Diagnosis for Chronic Granulomatous Disease at the Blastocyst Stage Coupled to HLA Typing

"Objective: To perform preimplantation genetic testing for persistent granulomatous disease with simultaneous HLA testing in a family case with an affected male child," the aim of selecting unaffected and HLA-matched embryos to serve as donors for hematopoietic stem cell transplantation from umbilical cord blood is "important. " Methods: A simple, indirect HLA haplotyping strategy, based on single-cell multiplex PCR analysis of several polymorphic short tandem repeat markers within the human HLA complex, was optimized for simultaneous amplification of the diagnostic STR markers and the gp91-phox gene region containing the mutation and the sex marker amelogenin. Conclusions: On day 5, a total of 11 blastocysts were biopsied, with a promising result for the descriptive STR markers and for mutation detection for all 11 blastocyst samples. ".

Source link: https://doi.org/10.1159/000160665


Gene Therapy for Chronic Granulomatous Disease

"Identification of gene mutations responsible for leukocyte dysfunction and gene transfer technology has made genetic correction of such disorders possible. " CGD is a stem cell disorder treated by marrow transplantation, and CGD is a precursor cell disorder treated by marrow transplantation, so CGD has emerged as a promising disease for somatic gene therapy aimed at the hematopoietic system. Multiple studies have shown the reconstitution of NADPH oxidase activity by gene transfer to human CGD marrow and cell lines cultured in vitro. Although the results of these murine studies are encouraging, human phase-I clinical trials in CGD patients have yet to produce sufficiently high numbers of corrected neutrophils for extended periods. Efforts to increase transplant efficiency in human hematopoietic stem cells and stem cell engraftment are ongoing. ".

Source link: https://doi.org/10.1159/000072457


Treatment with Polyethylene Glycol–Conjugated Fungal d-Amino Acid Oxidase Reduces Lung Inflammation in a Mouse Model of Chronic Granulomatous Disease

"Abstract Chronic granulomatous disease is a primary immunodeficiency in which phagocytes are unable to produce reactive oxygen species due to a nexotinamide phosphate oxidase complex defect. " In addition, antibiotic therapy may not help in reducing excessive inflammation caused by the residual presence of fungal cell wall u03b2-glucan. We used an in vivo nonviable Candida albicans lung inflammation model gp91-phox knockout CGD mice in this research and then delivered new Fusarium spp PEG conjugates. The body weight, lung height, and lung pathology were determined using three research methods with the in vivo lung inflammation model to determine the ROS-producing enzyme replacement therapy with PEG-fDAO. Although a more precise method is preferred, these results show that PEG-fDAO can be used to treat inflammation in CGD in vivo and show that PEG-fDAO can be used to treat inflammation in CGD in vivo. ".

Source link: https://doi.org/10.1007/s10753-022-01650-z


Two Successful Bone Marrow Transplantations Improved Lung Functions in Patients With Chronic Granulomatous Disease

"Chronic Granulomatous Disease is a rare inherited primary immune deficiency disorder that causes abnormal respiratory burst activity in phagocytes, resulting in recurrent pyogenic infections. " We reviewed two CGD patients who had undergone bone marrow transplantation in this research. FEV1: 42, FEV1: 36, FVC: 42, FEV1: 43 percent, FEV1/FVC: 43 percent, and in case 2, the patient's PFT before BMT was: FEV1: 42, FEV1: 42, FEV1: 42, FEV1/FVC: 43 percent. In addition, after BMT, both patients and the infection rate were well-tolerated clinical signs and the disease rate, and the number of hospitalizations in both patients decreased. ".

Source link: https://doi.org/10.18502/crcp.v7i1.9628


Long-Term Observational Study of Chronic Granulomatous Disease About 41 Patients From Tunisia and Comparison to Other Long-Term Follow-Up Studies

"Chronic granulomatous disease is an autosomal recessive or X-Linked primitive immunodeficiency disease associated with a defective nicotinamide phosphate oxidase complex, impairing peripheral blood mononuclear cells' ability. This research was done over a span of 34 years on 41 Tunisian patients suffering from CGD. According to the Kaplan-Meier method, survival curves were used to determine longevity. Patients monitors' results show nodes, pulmonary, and cutaneous infections predominate as revealing signs and as infectious events. At the end of the study, 12 patients died mainly from acute pulmonary aspergillosis and septicemia. CGD remains a good quality of life. ".

Source link: https://doi.org/10.1177/00099228221096329


Successful Treatment with Methylprednisolone Pulse Therapy for a Life-Threatening Pulmonary Insufficiency in a Patient with Chronic Granulomatous Disease following Pulmonary Invasive Aspergillosis and Burkholderia cepacia Infection

"A 14-year-old boy with X-linked chronic granulomatous disease had a severe invasive pulmonary aspergillosis. " Burkholderia cepacia was isolated from his bronchoalveolar lavage, according to his bronchoalveolar lavage. A methylprednisolone pulse therapy was started in Then, together with the delivery of appropriate antibiotics and in adequate amounts of amphotericin B. Hence, a methylprednisolone pulse therapy with appropriate antimicrobial drugs appears to be effective for severe pulmonary insufficiency in these patients.

Source link: https://doi.org/10.1159/000029435


Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency

"Abstract Background The deficiency in PKCu 03b4 is a rare inborn defect of immunity characterized by autoimmunity and susceptibility to bacterial, fungal, and viral infections. PKCu03b4 is involved in the intracellular production of reactive oxidative species. Methods and Methods We investigated a 5-year-old girl who had a history of Burkholderia cepacia infections. In the patient's circulating phagocytes in a dihydrorhodamine 123 assay, the patient's circulating phagocytes showed consistent with a history of persistent granulomatous disease with oxidative burst impairment, according to the patient. In PRKCD, two heterozygous candidate variants were identified: c. 285C > A and c. 376G > T. Exon 5 was completely skipped, resulting in a truncated protein, according to TOPO-TA cloning. In the patient's neutrophils and monocyte-derived macrophages, no PKCu03b4 protein was found in the patient's neutrophils and monocyte-derived macrophages. Conclusions And in the absence of medical and biological signs of autoimmunity, PKCu03b4 deficiency should be considered in young patients with CGD-like clinical signs and abnormal DHR assay findings.

Source link: https://doi.org/10.1007/s10875-022-01268-8


Fatal invasive aspergillosis in a child with chronic granulomatous disease

"We discuss an eight-year-old boy with persistent granulomatous disease, cerebral venous sinus thrombosis, and unusual skin lesions caused by Aspergillitis fumigatus in this article. " In children presenting with invasive fungal infections, particularly those involving the central nervous system, early diagnosis of invasive aspergillosis should be considered early.

Source link: https://doi.org/10.12968/jowc.2022.31.5.427

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions