Background: The immune system is a highly organized system designed to protect our body against external and internal threats. However, it sometimes fails to respond effectively because it is either absent or functioning improperly, resulting in an ineffective or absent immune response. Infant mortality is high in our country, and although more than 500 immune disorders have been identified, no data are currently available in C & ocirc;te d'Ivoire. Patients and Methods: This retrospective and preliminary study presents suspected but not confirmed cases of IEI. Patients were recruited from the pediatric department of the Treichville University Hospital (CHU). Epidemiological, clinical, and biological data were collected and analyzed to identify suspected Inborn Errors of Immunity (IEI). Results: The average age of the patients was 2 years, with ages ranging from 22 days to 15 years, and a sex ratio of 1.45, indicating a male predominance. The most common clinical manifestations were recurrent respiratory infections (50.53%). Hemogram analysis revealed abnormalities such as leukocytosis (42.4%), neutropenia (29.23%), and lymphopenia (16.44%). Antibody deficiencies seemed to be most frequent (95.16%) based on clinical and biological manifestations. Conclusion: This initial retrospective study on IEI in C & ocirc;te d'Ivoire based on suspected cases concludes that IEI may exist in the country. There is now a pressing need to address a prospective study on IEI using diagnostic tools that are accessible for our country to better understand the diagnostic profiles and help refine our screening and strategies.
Background: Asthma is the most common chronic respiratory condition of childhood worldwide and good asthma care extends beyond providing medications to improve outcome. Nevertheless, the goal of different therapeutic approaches is not only to treat the disease, but to improve patients' quality of life and prevent the long-term consequences of childhood asthma. Objectives: to assess the bone age and growth parameters in asthmatic children and to investigate the impact of asthma severity, control and asthma treatment on the childhood growth parameters. Methods: This cross-sectional controlled study included 40 asthmatic children recruited from Pediatric Allergy, Immunology and Rheumatology Clinic, Ain-Shams University, aged 4 to 10 years old and compared to 40 healthy age-and sex-matched control group. Results: Among the 40 asthmatic children; 29 out of 40 (72.5%) had mild persistent asthma, 6 children (15%) with moderate persistent asthma and 5 patients (12.%%) had severe asthma. No significant differences were found in measured growth parameters between patients and controls and also no significant difference among the different asthma severity subgroups (p= 0.093, p= 0.295, p= 0.357). The bone age of asthmatic children was significantly lower than the controls (p= 0.034). Also, a significantly higher difference between the chronological age and the bone age among patients compared to controls (p-value = 0.044). Patients were categorized into group A and group B according to presence and absence of delay in bone age (Group A; with normal bone age, group B; with delayed bone age). Delayed bone age was more prevalent in the patient groups (66.7% in the ICS group and 60.7% in the ICS + oral corticosteroids (OCS) compared to the control group (27.5%). Conclusion: Asthmatic children were found to have delayed bone age and growth parameters. While ICS were essential for symptoms control, their use, particularly in combination with oral corticosteroids, had negatively impacted growth.
Introduction: The use of musculoskeletal ultrasonography (MSUS) for patients with Juvenile idiopathic arthritis (JIA) is gaining rising attention in the current clinical practice, being a simple non-invasive tool in diagnosing and assessing JIA patients. We sought to describe MSUS findings in a group of pediatric patients with JIA and correlate these findings to their clinical assessment. Methods: This cross-sectional included 60 JIA patients, aged 1-16 years, 40 were already diagnosed as JIA and on treatment and 20 were newly diagnosed at enrollment in the study They were subjected to clinical assessment and MSUS radiological assessment and were assessed by the 27-joint Juvenile Arthritis Disease Activity Score (JADAS27 score). Results: Oligoarticular was the commonest JIA subtype. Strong agreement was observed between MSUS features and clinical findings (kappa=0.937, P<0.001). Thirty-five cases were diagnosed as oligoarticular JIA, confirmed by MSUS examination at enrollment in 33, while 2 were reclassified as having polyarticular JIA. Also, clinically 22 cases were diagnosed to have polyarticular JIA, 18 of them were confirmed by MSUS examination at enrollment. In addition, significant moderate agreement was observed between the MSUS features and the JADAS27 score (kappa = 0.353, P = 0.003). Conclusions: MSUS is a valuable tool for the diagnosis and followup of synovitis in children with JIA.
Background: Janus kinase 3 (JAK3) is a member of the JAK family which plays an important role in cytokine signal transduction. Dysregulation of JAK pathway has been linked to several autoimmune disorders including systemic lupus erythematosus (SLE). This study aimed to evaluate the expression of JAK3 among pediatric SLE (pSLE) patients. Patients and Methods: Forty-six children and adolescents with active SLE were recruited from the Pediatric Rheumatology Unit, Assiut University. All patients were subjected to clinico-laboratory evaluation as well as assessment of SLE status using SLE disease activity index (SLEDAI). Blood and renal JAK3 expression were assessed using quantitative polymerase chain reaction (q-PCR) and enzyme-linked immunosorbent assay (ELISA) in all patients as well as 20 age-and gender-matched healthy controls and in 26 patients with biopsy-proven lupus nephritis (LN) respectively. Results: The mean (SD) age of the studied patients was 12.2 (2.4) years, they were 34 females (74%) and 12 males (26%). Blood JAK3 expression both by ELISA and q-PCR were significantly higher among pSLE patients as compared to healthy controls (p<0.000). Both blood and renal JAK3 expression were significantly positively correlated with anti-double stranded-DNA and SLEDAI and were significantly negatively correlated with serum complement 3 (p <0.000). Renal JAK 3 expression was significantly positively correlated with 24-hour urinary proteins and urinary RBCs (p<0.000). Conclusion: The increased JAK 3 expression among pSLE patients and its strong association with validated parameters of SLE activity could make it a potential therapeutic target for pSLE patients especially those with LN.
Background: Inflammasomes are innate immune system protein complexes that control the activation of inflammatory responses. Lipids and lipid peroxidation can amend inflammasome activation and functions. Genetic variables have a substantial impact on type 1 diabetes mellitus (T1DM) susceptibility. Objective: We aimed to investigate, for the first time, if lipids, lipid peroxidation, and polymorphisms of NLRP1 and NLRC4 inflammasome-related gene variations (NlRP1 rs12150220 A/T and NLRC4 rs385076 C/T) are associated in T1DM in an Egyptian pediatric cohort. Methods: This case-control study included 120 Egyptian pediatrics meeting the diagnostic criteria for classical T1DM and 121 non-diabetic pediatric controls. Lipid profile and lipid peroxidation (LPO) were estimated. TaqManTM assay and Real Time-Polymerase Chain Reaction (RT-PCR) were used for genotyping the NLRP1 rs12150220 A/T and NLRC4 rs385076 C/T variants on the Artus Rotor-Gene Qiagen apparatus. Results: Cholesterol, high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), and LPO were increased (p<0.001) and showed association with T1DM susceptibility (OR=1.046, 95% CI=1.032-1.060, p<0.001), (OR=1.038, 95% CI=1.013-1.065, p=0.003), (OR=1.023, 95% CI=1.012-1.034, p<0.001), and (OR=2.133, 95% CI=1.762-2.581, p<0.001), respectively. NLRP1 rs12150220 A/T and NLRC4 rs385076 C/T did not show a significant association of genotypes or alleles with T1DM susceptibility or lipid profile or LPO (p>0.05). Conclusion: Our findings prove lipid profile and lipid peroxidation as independent markers for predicting T1DM susceptibility. We did not find proof that the two single nucleotide polymorphisms (SNPs) are associated with lipid profile, or lipid peroxidation in our T1DM cohort.
Background: Parapneumonic effusion (PPE) is a common complication of community-acquired pneumonia (CAP) in children, classified as complicated (CPPE) or uncomplicated (UPPE). Differentiating between these types aids in appropriate management and improves outcomes. This study evaluates the diagnostic utility of systemic inflammatory indices in distinguishing CPPE from UPPE in pediatric patients. Methods: A crosssectional study of 90 children with PPE categorized into CPPE and UPPE groups based on laboratory and imaging findings. Systemic immune inflammatory index (SII), neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), derived neutrophil-to-lymphocyte ratio (dNLR), lymphocyte-monocyte ratio (LMR), and C-reactive protein/albumin (CRP/Alb) ratio were calculated. Results: The CRP/Alb ratio was significantly higher in the CPPE group (p = 0.013). ROC analysis identified a CRP/Alb ratio >113.46 as a predictor of CPPE with 85.71% specificity and 44.12% sensitivity. Multivariate regression analysis identified parainfluenza virus infection and the CRP/Alb ratio as significant predictors of CPPE (OR = 17.12, p = 0.009). Conclusions: Among the inflammatory indices analyzed, the CRP/Alb ratio was the most reliable marker for differentiating CPPE from UPPE.
Background: Although children are less likely than adults to become infected by SARS-CoV-2, a widespread uncontrolled dysregulation of the host immune defense can occur at any age. We sought to investigate some potential immunological changes in confirmed pediatric COVID-19 in relation to disease severity and outcome. Methods: Our cross-sectional study comprised 55 confirmed COVID-19 pediatric cases, and 50 healthy matched control subjects. Patients underwent detailed clinical evaluation, laboratory immune system screening and radiological assessment. The laboratory testing included complete blood counting (CBC), serum immunoglobulins, lymphocyte immunophenotyping by flow cytometry and CD107a expression as a marker of natural killer cells degranulation. Results: There were some disturbances in key lymphocyte subsets in the form of reduced levels of B cells (CD19), natural killer cells (CD56), CD4+ T cells, and CD8+ T cells. Impaired NK cell degranulation and cytotoxicity were evident as significantly decreased levels of CD107a in COVID-19 cases compared to controls (p<0.0001). Comorbid conditions and lymphopenia amplified the reduction in the studied lymphocyte subsets, CD4/CD8 ratios and the elevation of CD8 percentage. These immune impairments did not correlate with disease severity or ICU admission. Conclusion: Significant immunologic changes in hospitalized pediatric patients with confirmed COVID-19 infection were demonstrated. These dysregulations were amplified by the presence of comorbidities and lymphopenia but not by disease severity and ICU admission. Further wider scale longitudinal studies are needed to validate our conclusions.
Background: Intercellular adhesion molecule-1 (ICAM-1) plays a key role in guiding leukocytes to sites of inflammation. Neutrophil extracellular traps (NETs) have been linked to vascular inflammation and blockages in patients with chronic kidney disease (CKD). The objective of this study was to measure serum levels of ICAM-1 and NETs both before and after a single session of high flux hemodialysis (HFHD) in children on maintenance hemodialysis. Methods: A total of 26 children who had been on HFHD for at least three months were enrolled, along with an equal number of healthy children matched for age and sex as controls. Patients with active inflammation, infections, or other relevant comorbid conditions were excluded from the study. Blood samples were collected from the patients both before and after their mid-week dialysis session to analyze complete blood counts (CBC), C-reactive protein (CRP), ICAM-1, and NETs levels. Same investigations were done for controls. Results: After the dialysis session, ICAM-1 and NETs levels showed a significant decrease compared to pre-dialysis measurements (p=0.000, p<0.0001 respectively). Despite this reduction, post-dialysis ICAM-1 and NETs levels remained higher than those observed in healthy controls (p=0.003, p=0.033 respectively). Conclusion: The findings support that end-stage kidney disease (ESKD) is characterized by ongoing inflammation. Unlike traditional views that suggest dialysis may add to the inflammatory process, our results indicate that effective hemodialysis can reduce inflammatory markers. Better dialysis membranes and novel modalities of dialysis should be tested to ensure they can exert a positive role in ameliorating this inflammatory status.
Background: Juvenile-onset systemic lupus erythematosus ((j)SLE) is an autoimmune/inflammatory disease that can result in significant damage periodic fever syndrome in children, is characterized by episodes of fever, abdominal pain, arthralgia, arthritis, serositis. Given the overlap in clinical features between jSLE and FMF, we sought to assess the prevalence of the common 12 MEFV gene mutations in a group of jSLE patients. Methods: This cross-sectional controlled study analyzed MEFV gene mutations in 60 jSLE patients and 30 healthy controls using PCR and reverse hybridization. The assay included the following gene Heterozygous MEFV gene mutations were found in 10% of jSLE patients and 13% of the controls, with no statistically significant difference. These mutations were primarily located in exon 10. Fever, abdominal pain, arthritis, and pericardial effusion were the most common clinical presentations in jSLE patients with a heterozygous MEFV gene mutation. Conclusions: jSLE patients carry MEFV variants at rates comparable to the general population. Nevertheless, MEFV genetic mutations may influence the presentation of SLE. Clinicians should consider the possibility of co-occurrence of both diseases in patients with overlapping symptoms. Wider scale studies are needed to validate our findings
Background: Community-acquired pneumonia (CAP) is a major cause of morbidity and mortality among children. S100A12 is suggestive to be a useful marker for diagnosis and severity assessment of CAP. We sought to assess the serum level of S100A12 in children with complicated and noncomplicated CAP and its correlation to CAP severity and prognosis. Methods: In this controlled cross-sectional study, we measured serum levels of S100A12 using enzyme linked immunosorbent assay in 30 patients with complicated CAP, 30 patients with noncomplicated CAP and 30 healthy children. CAP severity was assessed using British Thoracic Society (BTS) criteria. Serum S100A12 levels, serum C- Reactive Protein (CRP), and serum procalcitonin (PCT) concentrations were quantified. Radiological assessment included chest x ray, lung ultrasound, and Computed Tomography (CT) scans. Results: Serum S100A12 levels were significantly higher in CAP patients (median 451.22 ng/mL) than in controls (median 112.65 ng/mL). Complicated CAP cases had higher S100A12 levels (587.92 ng/mL) than noncomplicated cases (330.11 ng/mL). A cutoff value of >410.23 ng/mL predicted complicated CAP with 83.33% sensitivity and 70.00% specificity. S100A12 levels were also significantly elevated in severe CAP cases. Conclusions: Serum S100A12 is a promising biomarker for CAP severity assessment. Higher levels are associated with complicated CAP and may help predict disease severity and prognosis in affected children.
Background: Patients with kidney disease may exhibit various allergic disorders and allergy mimickers. Recognition of these reactions is essential to establish correct diagnosis and initiate the proper treatment. We sought to assess the frequency of different allergic disorders among adults and children with kidney disease Methods: We conducted a crosssectional study focusing on screening for allergic manifestations among 170 patients (130 adults and 40 pediatric) with different renal diseases. All cases were screened using an allergy questions checklist including allergy type, trigger, duration, associated symptoms, and use of antiallergic medications. Patients were subjected to laboratory assessment including renal function tests, serum electrolytes, parathormone and complete blood picture. Results: : We enrolled 55 patients with acute and 115 patients with chronic renal disease including 41 patients on regular hemodialysis. Thirty-nine percent of patients complained of one or more allergic manifestations, with the bronchial asthma most prevalent (19.4%) followed by allergic rhinitis (7.1%). In the adult group, 40% of patients had allergic diseases; 21.5% had asthma followed by allergic rhinitis (6.9%), while 9.2% had chronic kidney disease-associated pruritus (CKDaP). In the pediatric group, 37.5% had allergic diseases including asthma (12.8%), allergic rhinitis (7.5%), while 10% of patients had CKDaP. Allergic and non-allergic patients were comparable in terms of their clinicodemographic data and laboratory assessment except for higher platelet count among allergic patients (p=0.022). Urea and parathormone hormone (PTH) levels were higher among patients with CKDaP (p-value <0.05). Conclusion: Kidney diseases are associated with a complex array of allergic manifestations. Awareness of allergy disorders and differentiation from allergy mimickers would help in proper direction of the management plan, decreasing comorbidities and improving quality of life.
Background: Inborn Errors of Immunity (IEI) significantly impact the patients' life, limiting their physical and social activities. Health-related quality of life (HRQOL) can also be adversely influenced by the delay in diagnosis and treatment of infections . Methods: We sought to assess HRQOL of IEI patients at a major tertiary care hospital in Egypt by using the Arabic version of pediatric quality of life inventory generic core scale (PedQl 4.0) questionnaire answered by the patient or his/her parents . Results: We enrolled 50 IEI patients, 34 of them (68%) were males and 16 (32%) were females. Their mean +/- SD age was 86.8 +/- 36.9 months. The lowest HRQOL score was for school functioning with a mean score of 33.23 (SD=14.06). Social functioning score was significantly lower in older children (p=0.034). The rate and duration of hospitalization negatively affected social functioning. Pulmonary involvement in the form of bronchiectasis and interstitial lung disease caused a significant decline in quality of life. The procedures of receiving intravenous immunoglobulin (IVIG) therapy had no effect on the QOL . Conclusion: IEI patients suffer from a decreased quality of life in terms of school and physical functioning. Healthcare providers managing IEI pediatric patients should pay attention to their quality of life to improve their optimal academic achievement and emotional wellbeing.
Background: IgA nephropathy (IgAN) is an immunopathologic diagnosis based on a renal biopsy. Diagnosis of IgAN may not be made in the milder cases or may be delayed until clinical manifestations are severe. We sought to assess the validity of serum and urinary galactose-deficient IgA1(GdIgA1) as a possible non-invasive diagnostic biomarker of IgAN. Methods: A cross-sectional study was conducted at Pediatric Nephrology Clinic, Children's Hospitals, Ain Shams University on 40 patients with recurrent gross glomerular hematuria diagnosed with renal biopsy and divided into two equal groups, group 1 patients with IgAN and group 2 with non-IgA glomerular diseases. Serum and urinary Gd-IgA1 levels were measured by ELISA using an anti-Gd-IgA1 monoclonal antibody (KM55). Laboratory investigations included complete blood count (CBC), erythrocyte sedimentation rate (ESR), complement 3 level in serum (C3), antinuclear antibody (ANA), anti-double strand DNA, urine protein/creatinine (UP/Cr) ratio, serum, and urinary total IgA levels (ELISA). . Results: The study included 20 patients with IgAN, of which 13 were males and 7 were females, in addition to 20 patients with non-IgAN, of which 12 were males and 8 were females. In the IgAN group median age was 6.5 (5-9) years old. In the nonIgAN group, median age was 9 (4.5-13) years old. Serum Gd-IgA1 levels were significantly elevated in children with IgAN compared with children with non-IgA glomerular diseases (p-value 0.001). The serum Gd-IgA1 cutoff point to differentiate between IgAN and non-IgA glomerular diseases was 240 ng/ml with 75 % sensitivity and 80 % specificity and AUC 80.2%. There was no statistically significant difference between IgAN and non-IgA glomerular diseases regarding urinary Gd-IgA1 (p-value 0.08), Ptn/Creat ratio (p-value 0.055), serum and urine total IgA (p-value 0.144 and 0.288). Conclusion: Serum Gd-IgA1 level is higher in IgAN patients compared to non-IgA glomerular diseases, serum Gd-IgA1 may be used as a non-invasive diagnostic biomarker for IgAN patients. .
Background: Inflammatory bowel disease (IBD) in the pediatric age group is divided into two categories: very early onset IBD (VEO-IBD) and pediatric IBD (PIBD). The goal of this study was to determine the difference between the two entities concerning disease presentation, severity and treatment response. Methods: We conducted an observational prospective study that involved 70 newly diagnosed children with IBD, diagnosed using modified Porto criteria and followed up over a period of one year (35 VEO-IBD and 35 PIBD). It was conducted at the Pediatric Gastroenterology and Endoscopy Unit at Ain Shams University. Recruited cases were subjected to clinical assessment, laboratory investigations including stool tests, full blood counts, inflammatory markers in addition to ileo-colonoscopy and esophagogastroduodenoscopy. They were assessed initially and at follow-up for a total duration of one year for disease activity and treatment response and disease relapse. Results: Gender distribution was similar among both VEO-IBD and PIBD groups. Rural residence (p=0.048), positive family history (p= 0.010), oral ulcers (p=0.022) and perianal skin tags (p=0.066) were more frequent among patients with VEO-IBD. Colonoscopy showed deeper ulcers in VEO-IBD (25.7%) than in PIBD (2.9%). Regression analysis showed that younger age (p=0.032) and high disease severity scores (p=0.011) were the main determinants of steroid non-responsiveness. Conclusion: Young age and severity score were the most predictive risk factors for steroid unresponsiveness in pediatric IBD
