Search Results - "Meshaal, Safa"
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Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children
Published in Journal of clinical immunology (05-04-2024)“…Purpose Leukocyte adhesion deficiency (LAD) represents a rare group of inherited inborn errors of immunity (IEI) characterized by bacterial infections, delayed…”
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Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience
Published in Journal of clinical immunology (01-07-2022)“…Background Inborn errors of immunity (IEI) are a group of heterogeneous disorders with geographic and ethnic diversities. Although IEI are common in Egypt,…”
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3
T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients
Published in Journal of allergy and clinical immunology (01-07-2019)“…To the Editor: Dedicator of cytokinesis 2 (DOCK2) is a guanine nucleotide exchange factor expressed predominantly in hematopoietic cells that activates the Rac…”
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Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations
Published in Annals of human genetics (08-11-2024)“…Abstract Introduction Activation‐induced cytidine deaminase (AID) deficiency is a rare autosomal recessive inborn error of immunity (IEI) characterized by…”
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Purine nucleoside phosphorylase deficiency: across-the-board severe combined immunodeficiency
Published in Egyptian Journal of Medical Human Genetics (20-09-2024)“…Background Purine nucleoside phosphorylase (PNP) deficiency is a rare, autosomal recessive, inborn error of immunity. It is characterized by progressive immune…”
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Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients
Published in Journal of clinical immunology (01-08-2020)“…LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer…”
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Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease
Published in Egyptian Journal of Medical Human Genetics (01-12-2024)“…Background Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-[kappa][beta]…”
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Resistant psoriasis associated with LRBA deficiency: A case report
Published in Journal der Deutschen Dermatologischen Gesellschaft (01-07-2022)Get full text
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Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience
Published in Clinical immunology (Orlando, Fla.) (01-10-2018)“…In the past few years, several genes were shown to be implicated in various forms of the Hyper Immunoglobulin E syndrome. The present study is the first to…”
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Fallbericht über resistente Psoriasis in Verbindung mit LRBA‐Defizienz
Published in Journal der Deutschen Dermatologischen Gesellschaft (01-07-2022)Get full text
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11
Frequency of hepatitis C virus infection in patients with pediatric inflammatory bowel disease: a cross-sectional study
Published in The Gazette of the Egyptian Paediatric Association (01-12-2023)“…Background Patients with pediatric inflammatory bowel disease (PIBD) are believed to be at higher risk of hepatitis C virus (HCV) infection not only due to…”
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Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt
Published in Allergy, asthma, and clinical immunology (02-06-2022)“…Human inborn errors of immunity (IEI) are a group of inherited genetic disorders of the immune system. IEI Patients suffer from severe repeated infections,…”
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
Published in Journal of clinical immunology (01-08-2016)“…Introduction Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA…”
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MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-03-2019)“…MHC class II deficiency leads to defective CD4+ T-cell function that results from impaired antigen presentation. A genetic disorder in 1 of 4 genes results in…”
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Incidence of hepatitis C virus infection among people living with HIV: An Egyptian cohort study
Published in Southern African journal of HIV medicine (2022)“…Egypt used to have one of the highest hepatitis C virus (HCV) infection prevalence rates worldwide, with an estimated HCV prevalence of around 4.5% to 6.7%. To…”
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Potential Role of Neutrophil-Platelet Interaction in Increased Susceptibility to Infection of Patients with Down Syndrome
Published in Laboratory medicine (04-07-2022)“…Abstract Objective Recurrent infection in Down syndrome (DS) has been previously documented; the potential role of platelets and neutrophil-platelet…”
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Mediterranean fever gene mutations: correlation with cytotoxic T-lymphocyte-associated antigen 4 gene polymorphism
Published in Microbiology and immunology (01-03-2015)“…ABSTRACT Mutations in the Mediterranean fever (MEFV) gene lead to familial Mediterranean fever (FMF), a pro‐inflammatory state characterized by outbursts of…”
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Association of DNA Methyltransferase 3B Promotor Polymorphism With Childhood Chronic Immune Thrombocytopenia
Published in Laboratory medicine (01-11-2016)“…DNA methylation is an epigenetic process that refers to chromatin-based mechanisms in the regulation of gene expression without DNA alternation. It is mediated…”
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Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt
Published in Molecular diagnosis & therapy (01-12-2017)“…Background Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and,…”
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Transplant of hepatocytes, undifferentiated mesenchymal stem cells, and In vitro hepatocyte-differentiated mesenchymal stem cells in a chronic liver failure experimental model: A comparative study
Published in Experimental and clinical transplantation (01-02-2018)“…Objectives: Liver transplant is the cornerstone line of treatment for chronic liver diseases; however, the long list of complications and obstacles stand…”
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