IKZF1 rs4132601 and rs11978267 gene polymorphisms and paediatric systemic lupus erythematosus; relation to lupus nephritis.

The demographic factors, the socioeconomic status and the ethnicity of populations are important players that determine the incidence, the prevalence and the spectrum of systemic lupus erythematosus (SLE) clinical presentations in different populations. Therefore, the purpose of the present research was to investigate the possible association between the Ikaros family zinc finger 1 gene (IKZF1) rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and SLE susceptibility and clinical presentations including lupus nephritis (LN) among Egyptian paediatric patients. After DNA extraction from Ethylenediaminetetraacetic acid (EDTA) blood samples for 104 paediatric SLE (pSLE) patients and 286 healthy controls, the investigated SNPs (IKZF1 rs4132601 and rs11978267) were genotyped using TaqMan-Real-time Polymerase chain reaction (PCR).

Exploiting Signal Joint T Cell Receptor Excision Circle to Investigate the Impact of COVID-19 and Autoimmune Diseases on Age Prediction and Immunosenescence.

Signal joint T cell receptor excision circles () are a promising marker for age estimation and immunosenescence in different ethnic groups. Several limitations are expected to overshadow their use as accurate markers for age prediction. The current study was conducted to determine the influence of immunologic disorders, such as autoimmune diseases and COVID-19, on the accuracy of as molecular markers for age estimation and immunosenescence among living Egyptians.

rs10821936 and rs10994982 gene polymorphism and susceptibility to juvenile systemic lupus erythematosus and lupus nephritis.

Background: The prevalence of SLE and the spectrum of clinical manifestations vary widely in different races and geographical populations.

Objective: To investigate the possible role of rs10821936 and rs10994982 polymorphism as a risk factor for the development of SLE in children (jSLE) and to evaluate their role in relation to clinical manifestations especially lupus nephritis (LN).

Methods: DNA extraction and Real-time PCR genotyping of rs10821936 and rs10994982 were done for 104 jSLE and 282 healthy controls.

IKZF1 rs4132601 and rs11978267 Gene Polymorphisms and Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility and Outcome.

(IKZF1) rs4132601 and rs11978267 are common gene polymorphisms and have been associated with the risk of acute lymphoblastic leukemia. However, these associations are less evident in races and/or ethnicities other than European and Hispanic. Therefore, we investigated the association between these single-nucleotide polymorphisms and acute lymphoblastic leukemia susceptibility and disease outcome.

rs10821936 and rs10994982 gene polymorphisms and acute lymphoblastic leukemia: relation to disease susceptibility and outcome.

rs10821936 and rs10994982 single nucleotide polymorphism (SNP) have been associated with the risk of acute lymphoblastic leukemia (ALL) in different ethnic populations. We investigated the association between the rs10821936 C > T, rs10994982 A > G, and susceptibility to ALL in a cohort of Egyptian individuals and investigated their role in relation to disease outcome. Real-time PCR typing was done for rs10821936 and rs10994982 SNPs for 128 pediatric ALL (pALL), 45 adult ALL (aALL), and 436 healthy controls.

Evaluation of vitamin D receptor gene polymorphisms (Fok-I and Bsm-I) in T1DM Saudi children.

Background: Vitamin D deficiency conferred strongest susceptibility to pathogenesis of type 1 diabetes mellitus (T1DM). Altered gene expression and function have strong effect on VDR gene polymorphism.

Objectives: We aimed to check for the association of two single nucleotide polymorphisms (SNPs) in VDR gene (Fok-I and Bsm-I) with T1DM in Saudi children.

Tuberculosis/toxoplasmosis co-infection in Egyptian patients: A reciprocal impact.

Objective: To assess the concurrent toxoplasmosis infection in Egyptian TB patients and the impact of each infection on the other in terms of increased severity of TB or reactivation of latent Toxoplasma infection.

Methods: Three hundred suspected pulmonary TB cases were initially screened for TB using direct Ziehl Neelsen staining and Lowenstein Jensen culture of their sputa. Rifampicin resistance was detected by Xpert MTB/RIF assay.

Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis.

Unlabelled: There are no reports about the association of interleukin (IL)-17A and IL-17F gene polymorphism and susceptibility to pediatric systemic lupus erythematosus (pSLE).

Objective: To examine the possible role of IL-17A rs2275913, IL-17F rs763780 and rs2397084 polymorphisms as risk factors for pSLE in a cohort of Egyptian children and to investigate their association with the clinico-pathological features including lupus nephritis (LN).

Methods: Typing of IL-17A and IL-17F polymorphisms was done using restriction fragment length polymorphism for 115 children with SLE and 259 age- and sex-matched healthy controls.

Relation of interleukin-10 Promoter Polymorphisms to Adult Chronic Immune Thrombocytopenic Purpura in a Cohort of Egyptian Population.

Background: Adult chronic immune thrombocytopenic purpura (chronic ITP) is an autoimmune multifactorial bleeding disorder that occurs because of enhanced peripheral platelet destruction. Treatment decisions can be challenging because the goal of treatment is to prevent severe bleeding, but the risk of bleeding can be difficult to estimate for any individual patient.

Objective: This case-control study was planned to investigate the relationship of interleukin (IL)-10 promoter (IL-10-1082, -819 and -592) polymorphisms with the susceptibility, severity and outcome of adult chronic ITP in a cohort of Egyptian population.

Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and susceptibility to acute lymphoblastic leukemia in a cohort of Egyptian children.

This case-control study was planned to investigate the possible role of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms as a risk factor for the development of acute lymphoblastic leukemia (ALL) in a cohort of Egyptian children. Typing of MTHFR C677T and A1298C polymorphisms was done using restriction fragment length polymorphism (RFLP) for 100 children with ALL and 100 age- and sex-matched healthy controls. No significant differences were found between patients with ALL and controls for the frequency of MTHFR C677T and A1298C alleles, genotypes, combined genotypes or haplotypes.

BMI1 gene expression in myeloid leukemias and its impact on prognosis.

Background: BMI1 is a polycomb group (PcG) protein and is overexpressed in leukemia. It plays a key role in the self-renewal of stem cells. Leukemic cells lacking BMI1 underwent proliferation arrest and showed signs of differentiation and apoptosis.

Donor rejection before living donor liver transplantation: causes and cost effective analysis in an egyptian transplant center.

Background: In the living donor liver transplant setting, the preoperative assessment of potential donors is important to ensure the donor safety.

Objectives: The aim of this study was to identify causes and costs of living liver-donors rejection in the donation process.

Materials And Methods: From June 2010 to June 2012, all potential living liver donors for 66 liver transplant candidates were screened at the Ain Shams Center for Organ Transplantation.

CEBPA gene mutations in Egyptian acute myeloid leukemia patients: impact on prognosis.

Aim: To assess the prognostic role of myeloid transcription factor gene CEBPA (CCAAT/enhancer binding protein-α), a novel gene involved in leukemia in Egyptian adults AML.

Materials And Methods: Screening for CEBPA mutations was assessed using PCR-single-strand conformation polymorphism (PCR-SSCP) in pretreatment bone marrow samples from 55 newly diagnosed adult AML.

Results: CEBPA mutations were found in 11 (20%) of 55 AML patients.