Malignancies and Lymphoproliferations in Children With Primary Immune Deficiency-A Single-center Experience.

Primary immune deficiencies (PIDs) are rare genetic disorders characterized by impaired immune function, leading to frequent infections and immune dysregulation. Studies have shown that individuals with PID are at an increased risk of developing malignancies and lymphoproliferative disorders compared with the general population. In this single-center study, we aimed to analyze the occurrence of malignancies and lymphoproliferations in children diagnosed with PID. We retrospectively analyzed the medical records of 550 pediatric patients diagnosed with PIDs at our center. Among them, 17 (3,0%) patients were identified with malignancy and/or benign lymphoproliferation. Eight of the 17 patients (47.0%) had immune dysregulatory diseases, whereas ataxia-telangiectasia was the second most common PID associated with malignancy and/or benign lymphoproliferation (n = 5, 29.4%). Lymphoma was the predominant malignancy (n = 11, 64.7%), and Epstein-Barr virus was identified as the most common viral agent associated with malignancy and/or benign lymphoproliferation in patients with PID (n = 8, 47.0%). Our study highlights the association between PID and malignancies/lymphoproliferations, with immune dysregulation syndromes being the most common subclass associated with malignancies/lymphoproliferations. Early diagnosis, multidisciplinary management, and regular surveillance are crucial in improving patient outcomes and saving lives.

Does the severity of atopic dermatitis change with allergic sensitization? Is it real or a myth?

OBJECTIVE: Atopic dermatitis (AD) is a chronic inflammatory skin disease that can occur at any age. This study aimed to evaluate the impact of food allergy on disease severity as well as clinical/laboratory findings in children with AD. METHODS: Clinical and laboratory data of AD patients evaluated for food allergy between January 2021 and December 2022 were examined retrospectively. RESULTS: Of the 52 patients evaluated, 32 (61.5%) were males, with a median age of 6 months (2-118 months). Among them, 26 (50%) had food allergies (FA) and five (9.6%) had inhalant allergen sensitivity. No significant difference in AD severity was observed between patients with and without FA. However, the FA group showed higher serum lactate dehydrogenase (LDH) levels (343.3 ± 81.5 U/L vs 297.7 ± 77.4 U/L; P = 0.011) and lower red cell distribution width (RDW). Inhalant allergen sensitivity was associated with higher AD severity. CONCLUSION: While guidelines recommend investigating food allergies in moderate to severe AD, this study found no significant difference in the relationship between AD severity and the presence of FA. However, inhalant allergen sensitivity was linked to increased AD severity. Therefore, a comprehensive patient history should include an evaluation of food allergies in children with AD, regardless of disease severity. Elimination and provocation tests related to suspected food items should be performed, and allergenic foods should be removed from the diet if they are found to contribute to the allergy.

Does the severity of atopic dermatitis change with allergic sensitization? Is it real or a myth?

Objective: Atopic dermatitis (AD) is a chronic inflammatory skin disease that can occur at any age. This study aimed to evaluate the impact of food allergy on disease severity as well as clinical/laboratory findings in children with AD. Methods: Clinical and laboratory data of AD patients evaluated for food allergy between January 2021 and December 2022 were examined retrospectively. Results: Of the 52 patients evaluated, 32 (61.5%) were males, with a median age of 6 months (2–118 months). Among them, 26 (50%) had food allergies (FA) and five (9.6%) had inhalant allergen sensitivity. No significant difference in AD severity was observed between patients with and without FA. However, the FA group showed higher serum lactate dehydrogenase (LDH) levels (343.3 ± 81.5 U/L vs 297.7 ± 77.4 U/L; P = 0.011) and lower red cell distribution width (RDW). Inhalant allergen sensitivity was associated with higher AD severity. Conclusion: While guidelines recommend investigating food allergies in moderate to severe AD, this study found no significant difference in the relationship between AD severity and the presence of FA. However, inhalant allergen sensitivity was linked to increased AD severity. Therefore, a comprehensive patient history should include an evaluation of food allergies in children with AD, regardless of disease severity. Elimination and provocation tests related to suspected food items should be performed, and allergenic foods should be removed from the diet if they are found to contribute to the allergy (AU)

A Successful Treatment Approach in 2 Patients With Type 1 Plasminogen Deficiency: Intratracheal Application of Fresh Frozen Plasma and Tissue Plasminogen Activator.

BACKGROUND: Respiratory system involvement is common in congenital plasminogen deficiency. Although many treatment approaches have been tried, there is still no definitive treatment for respiratory system involvement. OBSERVATIONS: We report 2 congenital plasminogen deficiency cases, who presented with severe respiratory symptoms, for whom a novel treatment modality was tried. After intravenous administration of FFP (fresh frozen plasma), tissue plasminogen activator and FFP were administered intratracheally, and respiratory system findings improved. CONCLUSIONS: Intratracheal administration of tissue plasminogen activator and FFP is an available treatment modality for patients with lung involvement. Fibrin plaques should be carefully removed and new lesion formation should be prevented.

Transepidermal water loss in allergic diseases.

Background: In recent years, the epithelial barrier hypothesis has been emphasized in the formation of allergic diseases. Transepidermal water loss (TEWL) occurs through diffusion and evaporation from the skin to the external environment. There are few studies on TEWL in allergic diseases. Objective: This study evaluated the relationship between patients with atopic diseases and healthy controls and hygiene habits in TEWL. Methods: The study was conducted on patients who were followed up for atopic disease (asthma, allergic rhinitis, immunoglobulin E mediated food allergy, and atopic dermatitis) and healthy children. TEWL measurement was in a room that was stable in terms of humidity and temperature by using a widely validated open room system. During the measurement, the participants reported their frequency of taking a shower and cleaning product use. Results: In the study group, TEWL was measured in 182 patients, and the median (min-max) TEWL was 21.3 g/hm² (7.8-101.3 g/hm²) in the disease group and 9.6 g/hm2 (3.9-30.3 g/hm²) in the control group (p < 0.001). The number of weekly baths was higher in the disease group (p < 0.001). The cutoff for atopic diseases was 13.2 g/hm² (sensitivity, 83.2%; specificity, 84.3%; p < 0.001). Conclusion: High TEWL in atopic diseases supports the epithelial barrier hypothesis associated with disease development. Further studies are necessary to determine the threshold between healthy controls and the patients in the disease group. The TEWL measurement can be an effective method to determine the risk groups. Moreover, further studies related to factors on TEWL and treatment methods to reduce this loss are necessary, too.

The importance of aeroallergen sensitivity in children with cystic fibrosis.

BACKGROUND: Cystic fibrosis (CF) is an inherited autosomal recessive disorder that causes chronic airway disease. In addition to genetic factors, environmental factors may affect the clinical phenotype of CF. In this study, the presence of aeroallergen sensitivity in our patients with CF and its effects on clinical findings are evaluated. METHODS: In this study, patients included were diagnosed with CF and followed in the Pediatric Respiratory and Allergy Clinic of the Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey. Demographic characteristics, clinical and laboratory findings, skin prick test (SPT) results, and modified Shwachman-Kulczycki (MSK) scores of the patients were evaluated. RESULTS: We evaluated 51 patients with CF with a median age of 10 (6-18) years. The mean MSK score of the patients was 72.54±11.50, and the mean predictive value of forced expiratory volume (FEV1) in the initial (1st) second was 80.43±19.50. According to SPT, aeroallergen sensitivity was detected in 17 (33.3%) patients. The prevalence of bacterial colonization and bronchiectasis was higher, and MSK scores were lower in Aspergillus fumigatus (AF)-sensitive patients (P ≤ 0.01). However, no similar difference was found in other allergen sensitivities. MSK scores (P = 0.001) and predictive FEV1 values (P = 0.005) of 25 (49%) patients with bacterial colonization were significantly lower than those without colonization. CONCLUSION: Aeroallergen sensitivity was detected in approximately one-third of CF patients. Although it has been emphasized in studies that environmental factors may have an impact on lung functions and clinical conditions in CF, the effect of allergens other than AF sensitivity may be less important compared to other environmental factors, such as the presence of bacterial colonization.

The importance of aeroallergen sensitivity in children with cystic fibrosis

Background Cystic fibrosis (CF) is an inherited autosomal recessive disorder that causes chronic airway disease. In addition to genetic factors, environmental factors may affect the clinical phenotype of CF. In this study, the presence of aeroallergen sensitivity in our patients with CF and its effects on clinical findings are evaluated. Methods In this study, patients included were diagnosed with CF and followed in the Pediatric Respiratory and Allergy Clinic of the Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey. Demographic characteristics, clinical and laboratory findings, skin prick test (SPT) results, and modified Shwachman–Kulczycki (MSK) scores of the patients were evaluated. Results We evaluated 51 patients with CF with a median age of 10 (6–18) years. The mean MSK score of the patients was 72.54±11.50, and the mean predictive value of forced expiratory volume (FEV1) in the initial (1st) second was 80.43±19.50. According to SPT, aeroallergen sensitivity was detected in 17 (33.3%) patients. The prevalence of bacterial colonization and bronchiectasis was higher, and MSK scores were lower in Aspergillus fumigatus (AF)-sensitive patients (P ≤ 0.01). However, no similar difference was found in other allergen sensitivities. MSK scores (P = 0.001) and predictive FEV1 values (P = 0.005) of 25 (49%) patients with bacterial colonization were significantly lower than those without colonization. Conclusion Aeroallergen sensitivity was detected in approximately one-third of CF patients. Although it has been emphasized in studies that environmental factors may have an impact on lung functions and clinical conditions in CF, the effect of allergens other than AF sensitivity may be less important compared to other environmental factors, such as the presence of bacterial colonization (AU)

Autoimmune/autoinflammatory syndrome induced by adjuvants after multi-component meningococcal serogroup B vaccination in a 7-year-old girl: a case report.

BACKGROUND: Vaccines, which make it possible to be protected from many life-threatening infectious diseases, have been used safely and effectively for years. Most vaccines used today contain a variety of adjuvants and exogenous proteins. Severe reactions, in addition to transient and self-limiting mild reactions, mostly caused by these components, have been reported. The effects of vaccine adjuvants on the pathogenesis of immunemediated diseases are still under investigation. The syndrome called Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been defined in the literature. CASE: We found a novel mutation of autoinflammatory diseases in the genetic analysis of our patient. The patient developed symptoms of prolonged fever, rash, arthritis and serositis after multicomponent serogroup B meningococcal (Bexsero®) vaccination, without a previously known rheumatic disease. In the presence of clinical findings in our patient, the diagnostic criteria of ASIA syndrome were met. CONCLUSION: To the best of our knowledge, this is the first case report of a patient diagnosed with the autoinflammatory disease with a novel mutation after Bexsero® vaccination. We consider that genetic examinations will be useful in patients with a systemic vaccine reaction in the presence of ASIA when diagnostic criteria are met.

Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?

PURPOSE: High serum immunoglobulin (Ig) E levels are associated with allergies, parasitic infections, and some immune deficiencies; however, the potential effects and clinical implications of low IgE levels on the human immune system are not well-known. This study aims to determine the disorders accompanying very low IgE levels in children and adults. METHODS: The patients whose IgE levels were determined between January 2015 and September 2020 were analyzed, and the patients with an IgE level < 2 IU/mL were included in this study. Demographic data, immunoglobulin levels, autoantibody results, and the diagnoses of the patients were noted from the electronic recording system of the hospital. RESULT: The IgE levels were measured in 34,809 patients (21,875 children, 12,934 adults), and 130 patients had IgE levels < 2 IU/mL. Fifty-seven patients were children (0.26%); 73 were adults (0.56%). There was a malignant disease in 34 (9 of them children) (26%), autoimmune diseases in 20 (3 of them children) (15.4%), and immunodeficiency in 17 (14 of them children) (13.1%) of the patients. The most common reasons were other diseases, immunodeficiency and malignancy in children, and malignancy, autoimmune disorders, and other diseases in the adults, in rank order. The IgE level did not show any correlation with the levels of other immunoglobulins. CONCLUSION: Although rare, a low IgE level has been shown to accompany malignancies, autoimmune disorders, and immune deficiencies. Patients with very low IgE levels should be carefully monitored for systemic disorders.

Allergic bronchopulmonary Aspergillosis in children.

BACKGROUND: Allergic bronchopulmonary aspergillus (ABPA) is a lung disease caused by hypersensitivity from Aspergillus fumigatus. Diagnostic criteria, staging systems and treatment methods for ABPA disease have been reported in studies evaluating populations, the majority of which are adult patients. Our study aimed to discuss the use of ABPA diagnostic criteria in children, the success of other alternative regimens to oral corticosteroids in the treatment of ABPA, and the changes that occur during treatment, in the light of the literature. METHODS: Between January 2017 and 2020, patients diagnosed with ABPA at the Dokuz Eylül University Child Allergy and Immunology clinic were identified; demographic characteristics, clinical and laboratory findings, diagnostic scores and stages, and treatment protocols were analyzed retrospectively. RESULTS: The mean age of patients diagnosed with ABPA was 14.33 ± 1.96. At the time of ABPA diagnosis, the median total IgE level was 1033 IU/mL (1004-6129), and the median AF specific IgE was 10.64 (2.59-49.70) kU/L. Bronchiectasis was detected in HRCT of 5 cases. We detected significant improvement in spirometric analysis with omalizumab treatment in our patient with steroid-related complications. DISCUSSION: Today, although risk factors have been investigated for ABPA, it has not been revealed clearly. Both diagnostic criteria and treatment regimens have been described in research studies, mostly adults. In pediatric patients; clarification of diagnosis and treatment algorithms is necessary to prevent irreversible lung tissue damage and possible drug side effects.

Is There an Optimal Training Interval to Improve the Correct Use of Adrenaline Auto-Injectors?

BACKGROUND: Accurate use of adrenaline auto-injectors (AAIs) for anaphylaxis is critical to decrease mortality and morbidity. OBJECTIVE: In this study, we aimed to assess user knowledge of AAIs and evaluate the factors that affect their correct use. METHODS: The study involved caregivers of pediatric patients diagnosed with anaphylaxis who were trained with trainer injectors up to 24 months ago. The demographics of the caregivers, anaphylaxis history of the patients, usage of AAIs in the case of anaphylaxis, and the reasons for not using AAIs in anaphylaxis were evaluated. Users were asked to demonstrate the use of Penepin® with a trainer injector. RESULTS: Fifty-nine caregivers were enrolled in the study. Forty-seven (79.7%) users stated that they always carry AAIs with them. Forty-one (69.5%) of the users demonstrated all steps of the use of AAIs. The time from the last AAI training was the most significant parameter affecting the ability to use AAIs correctly (OR 0.678, 95% CI 0.546-0.841, p < 0.0001). AAI training every 6 months results in the proper usage of AAIs, with 96% probability. Thirty (50.8%) caregivers stated that anaphylactic reactions occurred in their children after the last AAI training. Of these, 16 (53.3%) users stated that they did not use an AAI for the anaphylactic reaction. The most common reason (50%) was not carrying an AAI on their person. CONCLUSION: Training users at least every 6 months is associated with the proper application of AAIs. Although regular training increases the frequency of AAI use in anaphylaxis, awareness of carrying AAIs is the most important factor for usage of AAI in anaphylaxis.

Tratamiento anticoagulante y vasodilatador para el síndrome de Nicolau tras la administración de una inyección de bencilpenicilina benzatínica intramuscular a un niño de cuatro años de edad / Anticoagulant and vasodilator therapy for Nicolau syndrome following intramuscular benzathine penicillin injection in a 4 year old boy

El síndrome de Nicolau (SN) es una complicación rara de la inyección de ciertos fármacos por vía intramuscular, intrarticular o subcutánea, que produce necrosis isquémica de la piel, las partes blandas y el tejido muscular circundante. La bencilpenicilina benzatínica es uno de los antibióticos más ampliamente empleados para las infecciones de las vías respiratorias altas y raramente se ha notificado que produzca SN. En este artículo presentamos el caso de un niño de sexo masculino de cuatro años de edad diagnosticado con SN tras la inyección de bencilpenicilina benzatínica tratado satisfactoriamente con heparina fraccionada (enoxaparina) y pentoxifilina. Los médicos deben estar atentos al uso innecesario de bencilpenicilina benzatínica para evitar las probables complicaciones.

Nicolau syndrome (NS) is a rare complication of intramuscular, intraarticular or subcutaneous injection of particular drugs leading to ischemic necrosis of the surrounding skin, soft tissue and muscular tissue. Benzathine penicilin one of the most widely used antibiotic for upper respiratory tract infections and has been rarely reported to cause NS. Here we describe a 4 year old boy with diagnosis of NS after the injection of benzathine penicillin who was successfuly treated with unfractionized heparin (enoxaparine) and pentoxifylline. The practitioners should pay attention for unnecessary use of benzathine penicillin to avoid from probable complications.

Anticoagulant and vasodilator therapy for Nicolau syndrome following intramuscular benzathine penicillin injection in a 4 year old boy. / Tratamiento anticoagulante y vasodilatador para el síndrome de Nicolau tras la administración de una inyección de bencilpenicilina benzatínica intramuscular a un niño de cuatro años de edad.

Nicolau syndrome (NS) is a rare complication of intramuscular, intraarticular or subcutaneous injection of particular drugs leading to ischemic necrosis of the surrounding skin, soft tissue and muscular tissue. Benzathine penicilin one of the most widely used antibiotic for upper respiratory tract infections and has been rarely reported to cause NS. Here we describe a 4 year old boy with diagnosis of NS after the injection of benzathine penicillin who was successfuly treated with unfractionized heparin (enoxaparine) and pentoxifylline. The practitioners should pay attention for unnecessary use of benzathine penicillin to avoid from probable complications.

El síndrome de Nicolau (SN) es una complicación rara de la inyección de ciertos fármacos por vía intramuscular, intrarticular o subcutánea, que produce necrosis isquémica de la piel, las partes blandas y el tejido muscular circundante. La bencilpenicilina benzatínica es uno de los antibióticos más ampliamente empleados para las infecciones de las vías respiratorias altas y raramente se ha notificado que produzca SN. En este artículo presentamos el caso de un niño de sexo masculino de cuatro años de edad diagnosticado con SN tras la inyección de bencilpenicilina benzatínica tratado satisfactoriamente con heparina fraccionada (enoxaparina) y pentoxifilina. Los médicos deben estar atentos al uso innecesario de bencilpenicilina benzatínica para evitar las probables complicaciones.