Search Results - "Safa Meshaal"

Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children by Saad, Mai Magdy, Alkady, Radwa, Eldash, Alia, El Hawary, Rabab E., Meshaal, Safa S., Galal, Nermeen M., Elmarsafy, Aisha M.

“…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 by EL Hawary, Rabab E., Meshaal, Safa S., Abd Elaziz, Dalia S., Alkady, Radwa, Lotfy, Sohilla, Eldash, Alia, Erfan, Aya, Chohayeb, Engy A., Saad, Mai M., Darwish, Rania K., Boutros, Jeannette A., Galal, Nermeen M., Elmarsafy, Aisha M.

“…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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T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients by Alosaimi, Mohammed F., Shendi, Hiba, Beano, Abdallah, Stafstrom, Kelsey, El Hawary, Rabab, Meshaal, Safa, Galal, Nermeen, Pai, Sung-Yun, El-Marsafy, Aisha, Geha, Raif S., Chou, Janet

“…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 by Meshaal, Safa S., El Hawary, Rabab E., Abd Elaziz, Dalia S., Eldash, Alia, Darwish, Rania, Erfan, Aya, Lotfy, Sohilla, Saad, Mai M., Chohayeb, Engy A., Nagy, Mohamed S., Alkady, Radwa, Boutros, Jeannette A., Galal, Nermeen M., Elmarsafy, Aisha M.

“…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 by Chohayeb, Engy A, Lotfy, Sohilla, El Hawary, Rabab E, Meshaal, Safa S, Mansour, Iman A, Galal, Nermeen M, Elmarsafy, Aisha M

“…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 by Meshaal, Safa, El Hawary, Rabab, Adel, Rana, Abd Elaziz, Dalia, Erfan, Aya, Lotfy, Sohilla, Hafez, Mona, Hassan, Mona, Johnson, Matthew, Rojas-Restrepo, Jessica, Gamez-Diaz, Laura, Grimbacher, Bodo, Shoman, Walaa, Abdelmeguid, Yasmine, Boutros, Jeannette, Galal, Nermeen, El-Guindy, Nancy, Elmarsafy, Aisha

“…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 by Meshaal, Safa, El Hawary, Rabab, Abd Elaziz, Dalia, Eldash, Alia, Darwish, Rania, Erfan, Aya, Lotfy, Sohilla

“…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 by Amer, Marwa A., Galal, Nermeen, ElMarsafy, Aisha, Lotfy, Sohilla, Elguindy, Nancy, Meshaal, Safa, ElHawary, Rabab, EL‐Komy, Mohamed HM, El‐Kalioby, Mona

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Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience by Meshaal, Safa S., El Hawary, Rabab E., Eldash, Alia, Grimbacher, Bodo, Camacho-Ordonez, Nadezhda, Abd Elaziz, Dalia S., Galal, Nermeen M., Boutros, Jeannette A., Shawky, Shereen M., Elmarsafy, Aisha M.

“…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 by Amer, Marwa A., Galal, Nermeen, ElMarsafy, Aisha, Lotfy, Sohilla, Elguindy, Nancy, Meshaal, Safa, ElHawary, Rabab, EL‐Komy, Mohamed HM, El‐Kalioby, Mona

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Frequency of hepatitis C virus infection in patients with pediatric inflammatory bowel disease: a cross-sectional study by Tarek, Sara, Eskander, Ayman E., Meshaal, Safa, Badr, Eman, El-Hakeem, Asmaa Abd

“…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 by Meshaal, Safa, Ei Hawary, Rabab, Eldash, Alia, Erfan, Aya, Abd Elaziz, Dalia, Alkady, Radwa, Lotfy, Sohilla, Galal, Nermeen, Boutros, Jeannette, Elmarsafy, Aisha

“…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 by El Hawary, Rabab, Meshaal, Safa, Deswarte, Caroline, Galal, Nermeen, Abdelkawy, Mahitab, Alkady, Radwa, Elaziz, Dalia Abd, Freiberger, Tomas, Ravcukova, Barbora, Litzman, Jiri, Bustamante, Jacinta, Boutros, Jeannette, Gaafar, Taghrid, Elmarsafy, Aisha

“…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 by El Hawary, Rabab E., Mauracher, Andrea A., Meshaal, Safa S., Eldash, Alia, Abd Elaziz, Dalia S., Alkady, Radwa, Lotfy, Sohilla, Opitz, Lennart, Galal, Nermeen M., Boutros, Jeannette A., Pachlopnik Schmid, Jana, Elmarsafy, Aisha M.

“…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 by Elrashdy, Fatma, Hagag, Suzan, Mohamed, Rahma, Abdel Alem, Shereen, Meshaal, Safa, Cordie, Ahmed, Elsharkawy, Aisha, Esmat, Gamal

“…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 by Abd El-Ghany, Hoda M, Abdel Meguid, Iman Ehsan, El Hawary, Rabab, Meshaal, Safa, Shimila, Iman Taha Lafy, Radwan, Eman Roshdy

“…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 by El Hawary, Rabab, Elanwary, Sherif, Meshaal, Safa

“…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 by Gouda, Heba M, Kamel, Nermine M, Meshaal, Safa S

“…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 by El Hawary, Rabab E., Meshaal, Safa S., Abd Elaziz, Dalia S., Elsharkawy, Marwa A., Alkady, Radwa S., Lotfy, Sohilla, El-Sheikhah, Ahmad, Hassan, Amr, Galal, Nermeen M., Boutros, Jeannette A., Elmarsafy, Aisha M.

“…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 by Baz,Hanan El, Demerdash,Zeinab, Kamel,Manal, Atta,Shimaa, Salah,Faten, Hassan,Salwa, Hammam,Olfat, Khalil,Heba, Meshaal,Safa, Raafat,Inas

“…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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