Pediatric Allergy Immunology and Pulmonology最新文献

Background: The lung is one of the organs that can be damaged in patients with thalassemia major (TM). In this study, we aimed to evaluate the pattern of lung impairment using various pulmonary tests and the effects of transfusion on pulmonary functions in patients with TM. Materials and Methods: The study was performed on patients 9-21 years of age prospectively. Spirometric tests, plethysmography, and CO diffusion tests were performed before and 2 h after erythrocyte transfusion. Patients also underwent a methacholine stimulation test 2 h after transfusion. Results: A total of 37 patients with TM were included in the study. There was no change in pretransfusion and post-transfusion spirometric test results. Plethysmographic tests revealed that both the median total lung capacity and the mean vital capacity values have decreased after transfusion. Medians of pretransfusion DLCO values significantly increased after transfusion. There was an impairment in diffusion in 16 (44.4%) patients, whereas it improved in 9 patients after transfusion. Bronchial hyperreactivity was detected in 10 out of 27 patients (37%) via methacholine stimulation test. There was obstructive airway disease in 20 patients (54%) out of 37 patients who had been tested. Conclusions: Patients with TM may have respiratory function abnormalities even while being asymptomatic. An obstructive airway pattern was the most common abnormality in our patient group. We revealed for the first time in the literature the presence and frequency of bronchial hypersensitivity in these patients using the methacholine stimulation test.

Background: Interleukin-10 (IL-10) is a crucial anti-inflammatory cytokine essential for maintaining immune homeostasis, particularly in the gastrointestinal system. Defects in the IL-10 signaling pathway, including mutations in interlaukin-10 receptor (IL-10R) beta, have been implicated in early-onset inflammatory bowel disease (IBD), often resistant to conventional treatments. Case Presentation: We report a 1.5-month-old male patient with IL-10R beta deficiency presenting with fever, vomiting, malnutrition, and sepsis. Despite normal initial evaluations, persistent fever and elevated inflammatory markers prompted the initiation of anakinra, an interleukin-1 receptor antagonist. Genetic testing confirmed a homozygous deletion in the IL10RB gene. Anakinra led to significant clinical improvement, including weight gain and symptom resolution. The patient was enrolled in an allogeneic hematopoietic stem cell transplantation (HSCT) program and successfully received HSCT from an HLA-matched related donor. Discussion: IL-10R beta deficiency presents with severe and early-onset symptoms, often unresponsive to standard IBD therapies. Anakinra has shown promise in bridging to HSCT by reducing inflammation and improving clinical outcomes in patients with IL-10 pathway defects. This case highlights the effectiveness of anakinra as a treatment strategy in severe, refractory IBD associated with IL-10R beta deficiency and underscores the importance of genetic testing for accurate diagnosis and treatment planning. Conclusion: Anakinra may provide significant clinical benefits in patients with IL-10R beta deficiency, serving as a bridge to definitive treatment with HSCT. Early genetic diagnosis and targeted therapy are crucial for managing this challenging condition.

Background: Chronic urticaria (CU) in children, persisting beyond six weeks, is less common than acute urticaria, with a prevalence of 0.1%-0.3%. CU is classified into chronic idiopathic urticaria (CIU) and chronic inducible urticaria (CIndU), with CIU having an often unknown etiology, whereas CIndU is triggered by physical stimuli. Our study aims to explore the clinical and demographic characteristics, laboratory results, and possible etiological factors in children diagnosed with CU, and to assess the necessity of aeroallergen skin prick tests (SPTs) in these patients. Methods: The study evaluated the medical records of 242 children with CU, treated at the Pediatric Allergy-Immunology Clinic of Prof. Dr. Cemil Taşcıoğlu City Hospital from January 2018 to January 2024. Data on age, gender, presence of angioedema, dermatographism, concomitant allergic diseases, family history of atopy, infection status, urticaria duration, SPT results, and laboratory tests were collected and analyzed. Results: Results showed that 48.3% of patients were females and 51.7% were males, with an average age of 12.8 years and an average onset age of 9.9 years. Angioedema was present in 15.7% of patients, dermatographism in 17.8%, concomitant allergic diseases in 24%, and a family history of atopy in 14.5%. Infections were documented in 10.8% of patients, with urinary tract infections, Helicobacter pylori (H. pylori) infections, and dental infections identified. Discussion: Our study found no significant differences in clinical features, treatment requirements, or response to treatments between patients with positive and negative SPT results. Laboratory parameters such as eosinophilia, total Immunoglobulin E (IgE), and thyroid function tests also showed no significant differences. These findings suggest that routine SPTs for the management of CU in children will only be useful if IgE-mediated allergic comorbidities are suspected but may not be necessary in other cases, prompting a reevaluation of their use in clinical practice to seek more cost-effective diagnostic methods.

Background: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. Case Presentation: Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections. Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Genetic testing identified a RASGRP1 homozygous loss-of-function variant with both parents being carriers. Conclusion: This is the first reported case of RASGRP1 deficiency in Malaysia, and we highlight the challenges clinicians face when the disease manifests in varied presentations.

Introduction: Iron deficiency (ID) has been intricately linked with various inflammatory diseases. Chronic rhinitis stands as one of most common respiratory inflammation disorders in children. This study aimed to investigate the prevalence of ID among preschool children with chronic rhinitis and to explore the association between ID and chronic rhinitis in this population. Methods: This cross-sectional study included children aged 3 to 7 years diagnosed with chronic rhinitis. ID was defined as transferrin saturation <20%, with absolute ID being defined as ferritin <15 ng/mL. Logistic regression analyses were performed to identify factors associated with ID. Results: A total of 72 children with chronic rhinitis were included, revealing a prevalence of ID of 47.2%. Only 5.9% children with ID exhibited absolute ID. Multivariate analysis revealed that neutrophils (odds ratio [OR] = 1.205, 95% confidence interval [CI] = 1.013-1.433, P = 0.035) and monocytes (OR = 1.803, 95% CI = 1.198-2.713, P = 0.005) were independently and significantly associated with ID. Conclusion: This study revealed a notable prevalence of ID in the preschool children with chronic rhinitis. The significant association between neutrophils and monocytes with ID implied an intricate involvement of innate immunity in the manifestation of ID.

Introduction: Poikiloderma with neutropenia (PN) is a rare autosomal recessive hereditary disease caused by biallelic mutations of the USB1 gene. It is characterized by poikiloderma, chronic noncyclic neutropenia, and recurrent sinopulmonary infections with bronchiectasis. Here we report a case with homozygous c.531delA mutation in USB1 gene. Case: An 15-month-old boy was admitted to our clinic with skin hyperpigmentation, growth retardation, and recurrent lower respiratory tract infections. The medical history revealed that he was hospitalized 6 times due to pneumonia since the age of 3 months. His physical examination showed facial dysmorphism with triangular face, depressed nasal bridge, and frontal bossing. He also had poikiloderma in the whole body. Skin biopsy was performed and showed only hyperkeratosis. His weight and height were below the 3 percentile. He is the first child of his consangenius parents. In the laboratuary findings; he has mild neutropenia (1,100/mm³), hypogammaglobulinemia (serum IgG: 351 mg/dL, IgA: 17 mg/dL, IgM: 20 mg/dL) and, peripheral lymphocyte subset analysis was normal. Neutropenia was also observed in previous examinations (980-560-840/mm³). Immunoglobulin replacement therapy and antibiotic prophylaxis were started. Exome sequence analysis showed the presence of known homozygous variant (c.351delA) in USB1 gene. Conclusion: Poikiloderma with neutropenia mainly affects the myeloid lineage. Unlike other patients in the literature, we observed hypogammaglobulinemia in addition to neutropenia in our patient. This case illustrated that it is important to monitor serum immunoglobulin levels in symptomatic patients with recurrent infections.

Background: This study aims to evaluate systemic immune inflammation index, systemic inflammatory response index (SIRI), aggregate index of systemic inflammation (AISI), and follistatin-like protein-1 (FSTL-1) levels in children with pneumonia and healthy controls. Methods: The study was carried out at the Seydisehir State Hospital between February 1, 2024 and June 1, 2024. The patient group included 44 children diagnosed with pneumonia and the control group included 45 healthy children without any disease. Index values obtained from hemogram data. Enzyme-linked immunosorbent assay was used to measure FSTL-1 levels. Results: A total of 89 participants, 44 in the patient group and 45 in the healthy control group, were included in the study. White blood cells, monocyte, eosinophil, neutrophil, c-reactive protein, SIRI, and AISI levels were significantly higher in the patient group than in the control group. FSTL-1 levels were higher in the patient group, but did not differ statistically significant. The patient and control groups were compared in the receiver operating characteristics analysis, we found the highest area under curve (AUC) in the SIRI (AUC: 0.754) and AISI (AUC: 0.713) parameters. Conclusion: In conclusion, compared to healthy controls, SIRI and AISI levels were significantly higher in the patient group, and the highest AUC values belonged to these indices. Therefore, we believe that SIRI and AISI indices, which are inexpensive and simple tests, are useful for early diagnosis and treatment of pneumonia.