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Abstract Background Innate immune deficiencies can impair both cellular and humoral immune responses. In contrast, other immune functions may appear normal, leading to increased susceptibility to specific pathogens, such as severe viral infections or Mendelian Susceptibility to Mycobacterial Disease (MSMD). Studying these deficiencies is essential for understanding the pathophysiology of these infectious diseases. Main body While primary immunodeficiencies (PIDs) generally cause vulnerability to multiple infections, innate immunodeficiencies increase susceptibility to specific pathogens, despite normal immune responses to others. Patients with these deficiencies show normal immunoglobulins and lymphocyte subpopulations, complicating diagnosis. This review highlights genetic susceptibility to mycobacteria, pneumococci, herpes simplex virus, and candidiasis, emphasizing recognizing this subset of PIDs. Conclusion This review highlights the diverse spectrum of genetic mutations contributing to defects in innate and intrinsic immunity, including Mendelian susceptibility to mycobacterial disease (MSMD), chronic mucocutaneous candidiasis, and predispositions to invasive bacterial and viral infections. Identifying key mutations in pathprovideh such as TLR3, IFN signaling, and IL-17A/F immunity provides valuable insights into the pathogenesis of these conditions. Our findings underscore the need for early genetic diagnosis and targeted interventions, particularly in regions with high undiagnosed cases, to reduce the morbidity and mortality associated with defects in innate and intrinsic immunity.

Abstract Background Cardiogenic shock (CS) remains a major cause of in-hospital mortality in the setting of acute myocardial infarction (AMI). However, little evidence is available regarding the optimal order of intra-aortic balloon counter-pulsation (IABP) insertion and primary percutaneous coronary intervention (PPCI). The aim of this study was to assess the hospital and short-term survival benefits of two different IABP insertion approaches, before versus after PPCI in patients with acute myocardial infarction and cardiogenic shock. Results Total mortality was 80 patients representing 48.4% of the total 165 studied patients; 60 patients died during the hospital admission period, while the remaining 20 patients died post-discharge. In-hospital mortality was significantly higher in Post-PPCI–IABP group 40 (49.4%) versus Pre-PPCI–IABP group 20 (23.8%) (P = 0.001). Moreover, the mortality difference between the two groups was sustained over six-month follow-up period, where 15 patients (18.5%) died in the Post-PPCI–IABP group, while only 5 patients 6.0% died in the Pre-PPCI–IABP (P = 0.001). Conclusions Early IABP insertion before PPCI is associated with improved in-hospital and long-term survival when used for patients presenting with AMI complicated by hemodynamic instability.

Abstract Background Post-COVID-19 survivors may experience long-term symptoms known as Post-acute COVID-19 syndrome (PACS). The PCAS symptom spectrum includes a wide range of symptoms affecting different organs. The prevalence and risk factors of PACS may vary across different regions, and a meta-analysis focused on Egypt can help understand the national prevalence and unique population-specific predictors. Methods A comprehensive literature search was conducted following the PRISMA guidelines to identify studies published in Egypt that documented symptoms, signs, and post-COVID-19 outcomes in patient cohorts. The results were reported, based on the random effects model, as proportions (%) and odds ratios with 95% CI. Results A total of 16 studies with 3097 COVID-19 survivors and an age range of 3 to 94 years were included in the analysis. The pooled prevalence of COVID-19 survivors experiencing at least one persistent symptom, regardless of hospitalization status, was high at 78.3%. A total of 54 clinical symptoms or conditions were reported among the survivors. The most commonly reported symptom was fatigue, which affected approximately half of all survivors (48.1%). Bone ache or myalgia, anorexia, anxiety, dyspnea, and depression were also among the most frequently reported symptoms at 32.9%, 32.8, 31.5, 19.9, and 19.5, respectively. The pooled prevalence of Post-COVID-19 pulmonary fibrosis (PCPF) among hospitalized Covid survivors was 40%. The study found that female sex, severe COVID, and the presence of any comorbidity were independent risk factors for PACS (P

Abstract Background Occult hepatitis B virus (HBV) infection (OBI) is a major public health problem. The clinical importance of OBI stems from the fact that it can be transmitted to healthy individuals at extremely low viral load levels. Additionally, immunosuppression has the potential to trigger viral replication, which can result in life-threatening liver decompensation. Despite several studies examining the prevalence of OBI, the pooled prevalence of OBI in Egypt remains unknown, particularly among blood donors and high-risk individuals, to whom intervention should be targeted. Methods A comprehensive literature search of the following databases was conducted from inception to October 2022 using the following keywords: occult hepatitis B virus infection or occult HBV infection or OBI and Egypt in MEDLINE [PubMed], Scopus, Google Scholar, and Web of Science. The review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. I-squared and Cochran’s Q were used to measure the heterogeneity between the studies, and based on the random effects model, results were reported as proportions (%) with a 95% confidence interval (CI). Analyses of subgroup analyses were conducted based on the target population. Sensitivity analyses were conducted using the leave-one-out approach to test the robustness of the results. Results A total of 50 studies with 62 estimations of OBI were included, 19 in patients who were HBsAg-negative and anti-HBc-positive and 43 in patients who were HBsAg-negative. The highest prevalence (41%) was among multi-transfused patients according to studies that report occult hepatitis B virus prevalence in an HBsAg-negative population, while the pooled prevalence of OBI among patients on hemodialysis, patients with chronic hepatitis C infection, patients with hepatocellular carcinoma (HCC), and patients with liver cirrhosis was 17%, 10%, 24%, and 13%, respectively. On the other hand, among studies that report OBI prevalence in HBsAg-negative and anti-HBc-positive individuals, the pooled prevalence of OBI among blood donors, patients with chronic hepatitis C infection, and patients with HCC was 12%, 15%, and 31%, respectively. Also, the majority of studies examining the genetic background of OBI have found that genotype D is the most prevalent. Conclusion This study highlights the high prevalence in OBI among blood donors and high-risk populations in Egypt. The implementation of HBV nucleic acid amplification testing (NAT) may increase the safety of blood transfusions by excluding all HBV DNA-positive donations. However, the cost-effectiveness of these tests should be investigated.

Abstract Background Vancomycin-resistant Enterococci (VRE) represent a critical medical and public health concerns due to their association with serious nosocomial infections and a high risk of mortality. We aimed to reveal the pooled prevalence of VRE and antimicrobial resistance profiles among enterococci clinical isolates in Egypt. Methods A PubMed, Scopus, Google Scholar, and Web of Science literature search was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. Only published studies documenting the prevalence of VRE between 2010 and 2022 were included. Using the random effects model and the 95% confidence intervals, the pooled estimate of VRE was calculated by MedCalc Version 20.113. Cochran’s Q and I 2 tests were used to evaluate the degree of heterogeneity, and publication bias was examined by visually examining the funnel plot and its associated tests (Begg’s and Egger’s tests). Results The pooled prevalence of VRE among enterococci clinical isolates in Egypt was estimated to be 26% (95% CI 16.9 to 36.3). E. faecalis had a greater pooled prevalence than E. faecium, with 61.22% (95% CI 53.65 to 68.53) and 32.47% (95% CI 27 to 38.2), respectively. The VanA gene is more frequent than the VanB gene among VRE, with a pooled prevalence of 63.3% (95% CI 52.1 to 73.7) and 17.95% (95% CI 7.8 to 31), respectively. The pooled resistance rate of linezolid was substantially lower than that of ampicillin and high-level gentamicin (HLG) 5.54% (95% CI 2.33 to 10%), 65.7% (95% CI 50.8 to 79.2%), and 61.1% (95% CI 47.4 to 73.9), respectively. Conclusion The prevalence of VRE is alarmingly high in Egypt. It is imperative that antimicrobial stewardship activities and infection control programs are strictly adhered to and implemented to prevent further escalation of the problem.

Abstract Background Mycobacteria include ubiquitous species of varying virulence. However, environmental and individual-specific factors, particularly host genetics, play a crucial role in the outcome of exposure to mycobacteria. The first molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility to mycobacterial disease (MSMD), a rare inborn error of IFN-γ immunity conferring a selective susceptibility to infections even with low virulent mycobacteria, in patients, mostly children, without recognizable immune defects in routine tests. This article provides a global and updated description of the most important molecular, cellular, and clinical features of all known monogenic defects of MSMD. Results Over the last 20 years, 19 genes were found to be mutated in MSMD patients (IFNGR1, IFNGR2, IFNG, IL12RB1, IL12RB2, IL23R, IL12B, ISG15, USP18, ZNFX1, TBX21, STAT1, TYK2, IRF8, CYBB, JAK1, RORC, NEMO, and SPPL2A), and the allelic heterogeneity at these loci has led to the definition of 35 different genetic defects. Despite the clinical and genetic heterogeneity, almost all genetic etiologies of MSMD alter the interferon gamma (IFN-γ)-mediated immunity, by impairing or abolishing IFN-γ production or the response to this cytokine or both. It was proven that the human IFN-γ level is a quantitative trait that defines the outcome of mycobacterial infection. Conclusion The study of these monogenic defects contributes to understanding the molecular mechanism of mycobacterial infections in humans and to the development of new diagnostic and therapeutic approaches to improve care and prognosis. These discoveries also bridge the gap between the simple Mendelian inheritance and complex human genetics.

Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Results Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Conclusions Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.

Abstract Background Early identification of vulnerable plaques by remodeling index prior to rupture and development of acute event is of considerable importance especially by a reliable non-invasive method as CT coronary angiography (CTA), so we aim to evaluate coronary artery remodeling index in patients with low- to intermediate-risk stable angina by CTA. Results This single-center, cross-sectional, observational study included 150 patients with stable angina with normal resting ECG, negative markers, normal systolic function by 2D echocardiography (EF > 50%), and without regional wall motion abnormality at rest who were referred to MSCT evaluation of the coronary artery tree; the mean age was 56.8 ± 6.4 years, 83.3% had one-vessel disease, and 16.7% had two-vessel diseases. The mean remodeling index (RI) was 1.04 ± 0.28, 38% had significant positive remodeling, LAD was the most affected vessel (55.3), and proximal lesions were predominant in 48.5%; there was a statistically significant positive correlation between RI and cholesterol, triglyceride, LDL, duration of DM, HBA1c, and plaque burden (P 1.1 were diabetic, hypertensive, smoker, with longer duration of diabetes mellitus, higher HBA1c, cholesterol, triglyceride, LDL, plaque burden, wall lumen ratio, stenosis area, and lower HDL. Conclusion CTA was able to detect the presence and extent of early, non-obstructive but significant coronary artery-positive remodeling in patients with low- to intermediate-risk stable angina patients. Trial registration NCT03963609, 22 May 2019