Publications by authors named "S Lotfy"
Introduction: Activation-induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by increased susceptibility to infections, autoimmunity, and/or autoinflammation. AID plays an important role in immunoglobulin class switching and somatic hypermutation. AID deficiency patients have very low or absent levels of IgG, IgA, and IgE, while IgM level is elevated.
View Article and Find Full Text PDFArticle Synopsis
- * Surfactants like Tween 80 and SDS were found to improve the dispersion of MWCNTs in the epoxy, while gamma irradiation changed thermal stability and viscoelastic properties, leading to enhanced crosslinking and varying recovery behaviors.
- * The study concluded that radiation treatment and surfactant use can optimize nanoparticle composites, improving mechanical performance and shape recovery, which is crucial for satellite applications.
Article Synopsis
- Recent studies show that errors in the CARD11-BCL10-MALT1 (CBM) signalosome can cause severe immunodeficiencies, presenting with various symptoms including frequent infections and skin issues.
- A case study of an Egyptian patient with a mutation in the MALT1 gene revealed severe skin rashes, diarrhea, pneumonia, and abnormal immune markers, indicating a diagnosis of immunodeficiency-12 (IMD12).
- The research emphasizes the importance of molecular diagnosis to differentiate between similar immunodeficiencies, as better understanding can facilitate early treatment options like stem cell transplantation, improving patient outcomes.
Background: Dedicator of cytokinesis 8 (DOCK8)-deficient patients have severe eczema, elevated IgE, and eosinophilia, features of atopic dermatitis (AD).
Objective: We sought to understand the mechanisms of eczema in DOCK8 deficiency.
Methods: Skin biopsy samples were characterized by histology, immunofluorescence microscopy, and gene expression.
Cernunnos deficiency is a rare genetic disorder characterized by immunodeficiency, microcephaly, growth retardation, bird-like facies, sensitivity to ionizing radiation, few autoimmune manifestations, premature aging of hematopoietic stem cells at an early age, and occasional myeloproliferative disease. Herein we present five Egyptian Cernunnos patients from 3 different families. We describe the patients' clinical phenotypes, their immunological profile as well as genetic results.
View Article and Find Full Text PDF