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Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation. [ABSTRACT FROM AUTHOR]

Introduction: PFAPA syndrome is an autoinflammatory disease seen in childhood characterized by recurrent fever, aphthous stomatitis, pharyngitis, and cervical adenitis. This study aims to examine the clinical and laboratory features of PFAPA syndrome, assess responses to treatment, and particularly evaluate the disease from an immunological perspective. Materials and Methods: Forty-nine patients presenting to the Pediatric Immunology and Allergy outpatient clinic and meeting the diagnostic criteria for PFAPA were evaluated. Demographic information, symptoms, physical examination findings, laboratory results, and responses to treatment were meticulously recorded. Results: Our study included a total of 49 patients, comprising 30 males and 19 females, with a mean age at diagnosis of 3.5 years. Notable findings in immunological assessments included neutrophilia, leukocytosis, and in a few cases, lymphopenia, as well as changes in CD3 and CD19 subsets that highlighted the immunological aspect of the disease, indicating significant alterations in the adaptive immune system. Prednisolone treatment resulted in a response rate of 92.5%, with most patients showing a rapid improvement. Eighty-one point eight percent of patients receiving colchicine prophylaxis reported a decrease in symptoms. The symptoms in 13.5% of patients who underwent tonsillectomy either significantly decreased or completely resolved. Conclusion: Management of PFAPA syndrome varies in terms of immunological findings and response rates to treatment. Our study elucidates the effectiveness of prednisolone treatment, the benefits of colchicine prophylaxis, and the improvement in symptoms following tonsillectomy. Furthermore, it underscores the necessity of considering immunological factors in the diagnosis and treatment processes of PFAPA syndrome. [ABSTRACT FROM AUTHOR]

Background Serum vitamin D levels have not been studied in children with seasonal allergic rhinitis ( SAR). The aim of this study was to evaluate the vitamin D levels of children with SAR and to compare them to levels in healthy children during pollen season. Methods This study was conducted in 100 children with SAR and 100 healthy controls. Clinical and laboratory evaluations and vitamin D analyses of all the participants were performed between the months of April and July. Pollen sensitization was detected in the patient group using a skin prick test. 25( OH)D3 levels were compared between the patient and control groups. Associations among the patient 25( OH)D3 levels and their demographic, clinical, and laboratory characteristics were analyzed. Results Overall, 72% of the patients were male, the median age was 12.35 years (range: 6-17.8 years), and the median body mass index value was 19.15 (range: 13.6-27.8). There were no differences between the patients and healthy controls in terms of gender, age, or body mass index. The mean levels of 25( OH)D3 (20.78±6) in patients were higher than those of the controls (17.92±4). In the patient group, no associations were found among 25( OH)D3 levels, demographic characteristics, atopy test results, atopy history, severity of rhinitis, and the total four symptoms score (all P>.05). Conclusions During pollen season, children with SAR may have higher vitamin D levels than healthy controls. The presence of asthma and/or atopic dermatitis in addition to SAR did not change this result. [ABSTRACT FROM AUTHOR]

Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented. [ABSTRACT FROM AUTHOR]

Background: The most commonly used medications for attention deficit hyperactivity disorder (ADHD) are the psychostimulants. There is, however, considerable awareness in alternative, nonstimulant therapies, because some patients respond poorly to stimulants or are unable to tolerate them. Some studies suggest that deficiency of zinc play a substantial role in the aetiopathogenesis of ADHD. Therefore, to assess the efficacy of zinc sulfate we conducted treatment trial. Methods: Patients with a primary DSM-IV diagnosis of ADHD (N=400; 72 girls, 328 boys, mean age=9.61±1.7) were randomly assigned in a 1:1 ratio to 12 weeks of double-blind treatment with zinc sulfate (n=202) (150 mg/day) or placebo (n=198). Efficacy was assessed with the Attention Deficit Hyperactivity Disorder Scale (ADHDS), Conners Teacher Questionnaire, and DuPaul Parent Ratings of ADHD. Primary efficacy variables were differences from baseline to endpoint (last observation carried forward) in mean ADHDS and Conners Teacher Questionnaire scores between the zinc sulfate and the placebo groups. Safety evaluations included monitoring of adverse events, vital signs and clinical laboratory values. Results: Zinc sulfate was statistically superior to placebo in reducing both hyperactive, impulsive and impaired socialization symptoms, but not in reducing attention deficiency symptoms, as assessed by ADHDS. However, full therapeutic response rates of the zinc and placebo groups remained 28.7% and 20%, respectively. It was determined that the hyperactivity, impulsivity and socialization scores displayed significant decrease in patients of older age and high BMI score with low zinc and free fatty acids (FFA) levels. Zinc sulfate was well tolerated and associated with a low rate of side effect. Conclusions: Zinc monotherapy was significantly superior to placebo in reducing symptoms of hyperactivity, impulsivity and impaired socialization in patients with ADHD. Although by themselves, these findings may not be sufficient, it may well be considered that zinc treatment appears to be an efficacious treatment for ADHD patients having older age and high BMI score with low zinc and FFA levels. [Copyright &y& Elsevier]

The article presents a case study of an eight-year-old male patient with two-year history of knee swelling and pain. The patient was found negative for surface antigen of the hepatitis B virus (HBsAg), anti-HBs, anti-HCV (hepatitis-C), and Cytomegalovirus by polymerase chain reaction. Hyperimmunoglobulin M syndrome (HIGM). The patient was diagnosed with Hyperimmunoglobulin M syndrome (HIGM) syndrome.