Purpose: Intranasal corticosteroids (INCS) and their combination with intranasal antihistamines (INCS/INAH) are treatment options for patients with allergic rhinitis (AR). Therefore, we aimed to prospectively compare these two different intranasal therapies regarding symptom scores, quality of life (QoL), and treatment adherence in adolescents. Methods: The study included pediatric patients aged 12-18 years, diagnosed with moderate-to-severe AR. Patients' symptom severity at baseline and at the one-and two-month followups was assessed using the Total Nasal Symptoms Score (TNSS); additionally, QoL and treatment adherence were measured via the Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) and Medication Adherence Reporting Scale (MARS), respectively. These scores were compared between treatment groups. Results: The study included 79 patients with moderate-to-severe AR. Thirty-five patients (44.3%) had concomitant allergic diseases, and 28 (35.4%) had asthma. INCS (fluticasone propionate) therapy was started in 41 patients (51.9%), and combination therapy (azelastine hydrochloride + fluticasone propionate [AzeFlu]) was started in 38 patients (48.1%). Treatment adherence (MARS) was higher in the AzeFlu group (P = 0.002; odds ratio, 5.111; 95% confidence interval, 1.776-14.711). A positive correlation was found between treatment adherence and parental education levels (P = 0.002, r = 0.373 for mothers; P = 0.004, r = 0.351 for fathers). TNSS and PRQLQ scores were improved in treatment adherence patients (P = 0.001, P = 0.047). There were no significantly differences in TNSS and PRQLQ scores between the treatment groups. Conclusions: AzeFlu therapy may be preferred in patients with persistent symptoms and unresponsive to other treatments. Especially in adolescent children with persistent AR, AzeFlu should be considered as first-line treatment to increase treatment adherence.

The aim of this study was to evaluate the nutritional status, especially calcium deficiency, of breastfeeding mothers of infants diagnosed with cow's milk food protein-induced allergic proctocolitis (FPIAP) on an elimination diet and to investigate the relationship between daily calcium intake and body composition of these mothers. Our prospective cohort study included 86 patients with cow's milk protein allergy (CMPA) and their mothers on an elimination diet. The mother's body fat, muscle, and water percentages were measured with the Bioelectrical Impedance Method (Tanita MC-580). All mothers were administered a diet containing an average of 2000 kcal (kilocalorie), 1000 mg of calcium, and 400 units per day of vitamin D. The final measurements were repeated 1 month later and the results of the first and second assessments were compared. The mean age of the patients included in the study was 3.8 ± 1.8 months, and the M/F (male to female) ratio was 18/17. In all, 54.3% of the patients had only CMPA, while 45.7% had multiple food allergies, including milk. A comparison of the mother's body measurements before and after the diet showed a significant decrease in fat but with an increase in calcium levels. In contrast, muscle and water ratios did not change (p < 0.001, p = 0.332, p = 0.189). Despite the recommendation of a 2000 kcal per day diet, the second evaluation found that calorie, fat, and protein ratios were significantly reduced (p = < 0.001, p = 0.011, p = 0.009, p < 0.05, respectively). The metabolic health of breastfeeding mothers who follow an elimination diet for CMPA is affected even with dietician support.

Background: Sesame allergy (SA) is diagnostically challenging in childhood, and data on its natural course and clinical nonreactivity development are limited. Although oral food challenge (OFC) remains the diagnostic criterion standard, the value of skin-prick tests (SPT) and sesame specific immunoglobulin E (sIgE) in diagnosis and clinical nonreactivity prediction is unclear. Objective: The objective was to assess the diagnostic accuracy of tahini SPT and sesame sIgE, and to determine the frequency of clinical nonreactivity and identify clinical and laboratory factors associated with clinical nonreactivity development in children undergoing tahini-based OFC. Methods: In this retrospective diagnostic accuracy study, 49 children with suspected SA were included. All participants underwent open tahini-based OFC. The diagnostic performance of tahini SPT and sesame sIgE was assessed by using receiver operating characteristic curve analysis. Results: Of the 49 children included in the study, 21 (42.9%) had a positive tahini-based OFC result. A tahini SPT demonstrated higher predictive performance for OFC positivity compared with sesame sIgE. An optimal cutoff value of 7.5 mm for a tahini SPT result yielded a sensitivity of 81% and a specificity of 85.7%. In contrast, sesame sIgE at a cutoff value of 2.60 kU/L demonstrated lower sensitivity (66.7%) and specificity (82.1%) for predicting OFC outcomes. The sesame sIgE to total IgE ratio was also significantly higher in patients with a positive outcome of OFC (p = 0.049). Patients with a negative outcome of OFC were significantly younger than those with a reactive outcome (p = 0.003). Atopic dermatitis was more prevalent in the negative outcome of the OFC group (p = 0.038), whereas a history of anaphylaxis was not associated with OFC outcomes (p = 0.084). Conclusion: Tahini SPT showed a trend toward better diagnostic performance than did sesame sIgE in predicting clinical reactivity in pediatric SA, although the difference did not reach statistical significance. Younger age and the presence of atopic dermatitis seemed to be associated with a higher likelihood of a negative OFC outcome. However, these findings should be interpreted with caution due to the retrospective design, limited sample size, and single-center setting. Further prospective studies are needed to confirm these observations.

OBJECTIVE:Hospitalizations due to moderate to severe asthma exacerbations in children remain a significant burden for healthcare systems and families. Identifying factors associated with prolonged duration of hospitalization may improve asthma management and reduce morbidity. To investigate demographic and clinical factors associated with prolonged hospitalization in children admitted with moderate to severe asthma exacerbations. METHODS:This prospective cohort study included 159 children aged 5-18 years hospitalized for moderate to severe asthma exacerbations at a tertiary pediatric center between January 1 and December 31, 2024. Exacerbation severity was classified according to Global Initiative for Asthma criteria. Length of hospital stay was categorized according to the University of California, San Francisco Consensus Guidelines as short-term hospitalization (≤72 h) or prolonged hospitalization (>72 h). Demographic, clinical, laboratory, environmental, and treatment-related variables were obtained from medical records. RESULTS:Among the patients, 52.8% were female, and the median age was 8 years (IQR: 6-12). Overall, 34% had short-term hospitalization, whereas 66% experienced prolonged hospitalization. Multivariate logistic regression analysis demonstrated that weekend admission (OR: 4.564, p = 0.004), increased number of exacerbations requiring systemic corticosteroids during the previous year (OR: 1.620, p = 0.012), and longer time spent at home before admission (OR: 1.069, p < 0.001) were independent predictors of prolonged hospitalization. Female sex, tobacco exposure, obesity, polysensitization, allergic rhinitis, rhinovirus infection, and poor treatment adherence were also associated with longer hospital stay. CONCLUSIONS:Clinical severity and modifiable environmental factors contribute to prolonged hospitalization in pediatric asthma exacerbations. Early intervention, treatment adherence, and environmental control may reduce hospitalization duration and improve outcomes.

BACKGROUND:Beta-lactam antibiotics remain the most commonly reported cause of drug allergy in children. Skin testing often shows limited sensitivity and logistical challenges, particularly for non-immediate reactions, leading to the adoption of risk-stratified diagnostic algorithms. This retrospective study evaluated the safety and diagnostic performance of a risk-stratified approach in children with suspected beta-lactam hypersensitivity, focusing on low-risk non-immediate phenotypes. METHODS:Medical records of 180 children (aged 3-18 years) evaluated for suspected beta-lactam allergy were reviewed. Patients were stratified based on reaction timing and clinical phenotype. Moderate-to-high-risk cases (history of anaphylaxis or immediate reactions) underwent skin testing followed by drug provocation test (DPT) if skin tests were negative. Low-risk cases (mild maculopapular exanthema [MPE] or benign delayed-onset urticaria occurring >6 h after dosing and lasting >24 h) underwent direct oral DPT without prior skin testing. RESULTS:Beta-lactam hypersensitivity was confirmed in 15.6% (28/180) of patients, with higher confirmation rates in immediate reactions (21.1%) compared to non-immediate reactions (3.5%). Among 57 low-risk non-immediate patients who underwent direct DPT, only 2 (3.5%) experienced mild, self-resolving cutaneous reactions; no systemic or severe reactions were observed. No positive reactions occurred in patients with delayed-onset urticaria (>6 h post-dose). CONCLUSION:Risk stratification based on detailed clinical history provides a safe and effective strategy for evaluating suspected beta-lactam hypersensitivity in children. Direct oral DPT without preceding skin testing is safe and efficient for low-risk non-immediate phenotypes, including mild MPE and benign delayed-onset urticaria, and should be more widely implemented to facilitate timely delabeling.

INTRODUCTION:Omalizumab is an effective therapy for H1-antihistamine-refractory chronic spontaneous urticaria (CSU). However, predictive biomarkers for treatment success in the pediatric population remain poorly defined. This study aimed to identify clinical and laboratory factors predicting complete disease control in children receiving omalizumab. METHODS:We conducted a retrospective cohort study of 44 pediatric patients (aged 12-18 years) with CSU treated with omalizumab (300 mg/4 weeks). Disease activity and control were assessed using Urticaria Activity Score (UAS7), Urticaria Control Test (UCT), and Chronic Urticaria Quality of Life Questionnaire at baseline and months 1, 3, and 6. Complete control was defined as UAS7 = 0 and UCT = 16 at month 6. Univariate and multivariate logistic regression analyses were performed to identify independent predictors. RESULTS:Complete control was achieved in 40.9% (n = 18) of patients at month 6. In multivariate analysis, shorter symptom duration prior to omalizumab (odds ratio [OR]: 0.46; 95% confidence interval [CI]: 0.25-0.88) and higher baseline absolute eosinophil count (OR: 1.04; 95% CI: 1.00-1.06) were identified as independent predictors of complete control. In addition, early clinical response at month 1 was significantly associated with subsequent treatment success and may serve as an early on-treatment prognostic marker. CONCLUSION:Early initiation of omalizumab and higher baseline eosinophil counts are strong predictors of complete disease control in pediatric CSU. These findings support a biomarker-guided and timely intervention strategy to optimize clinical outcomes in children.

BACKGROUND:The primary risk factor determining the progression of tuberculosis (TB) infection is the host's immune status. However, reports of TB cases in children diagnosed with primary immunodeficiency (PID), also referred to as inborn errors of immunity (IEI), remain scarce. In this study, we describe the impact of PID/IEI on childhood TB disease. METHODS:In this retrospective cohort study, data of patients aged 1 month to 18 years who were diagnosed with TB between January 2012 and January 2025 were collected. TB patients were compared according to PID status. Additionally, radiological, histopathological, and microbiological diagnostic findings, as well as clinical features and treatments of TB patients with PID, were evaluated. RESULTS:A total of 217 TB patients were included, with a median age of 118 months (IQR: 42-169.5). PID was detected in 5.5% (n = 12) of the patients. In 6 (50%) of the PID patients, the immunodeficiency was not known before the TB diagnosis. The median age of patients with PID was 17 months (IQR: 10.3-58.5), which was significantly lower compared to other patients (p = 0.001). The diagnosis of extrapulmonary TB was significantly more common among PID patients (p = 0.049). Treatment durations in patients with PID ranged from 6 to 24 months, and no mortality was observed. CONCLUSION:Investigating PID in children diagnosed with TB may be a critical step in enabling early diagnosis and treatment before the development of potentially fatal complications. We also believe that expanding immunological investigations will contribute to a better understanding of childhood TB pathogenesis.

Background/aim:This study aimed to evaluate the frequency, timing, severity, and clinical predictors of systemic reactions in children receiving subcutaneous allergen-specific immunotherapy (SCIT) with house dust mite (HDM) and grass pollen extracts under real-world clinical conditions. Materials and methods:This multicenter retrospective study included 623 children with moderate-to-severe allergic rhinitis, with or without asthma, who received SCIT between 2006 and 2023 at two tertiary pediatric allergy centers. Clinical characteristics, laboratory findings, immunotherapy protocols, and systemic reactions (SRs) were recorded and graded according to the updated 2024 World Allergy Organization (WAO) systemic reaction scale. Results:SCIT was well tolerated. Systemic reactions occurred in 10.7%, corresponding to 0.27% per injection. Most SRs were mild-to-moderate (WAO grades 1-2), and approximately three-quarters occurred during the maintenance phase. A progressive decline in SR incidence was observed throughout the treatment period. In the pollen SCIT subgroup, asthma was the only independent predictor of SRs (OR, 2.35; 95% CI 1.13-4.88; p = 0.022). No life-threatening reactions or fatalities were observed. Conclusion:Pediatric SCIT with pollen and HDM extracts demonstrated a favorable safety profile, with infrequent and predominantly nonsevere systemic reactions. The association between asthma and SRs in pollen SCIT highlights the importance of optimal asthma control throughout immunotherapy.

BACKGROUND:Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency and cytotoxic T lymphocyte-associated protein 4 (CTLA-4) insufficiency are rare primary immune dysregulation disorders. Both conditions result from impaired maintenance of CTLA-4, a critical inhibitory checkpoint molecule. Despite the known benefits of abatacept (a CTLA-4-Ig fusion protein) treatment, its precise immunologic effects remain unclear. OBJECTIVE:We comprehensively investigated the effect of abatacept therapy on patients with LRBA deficiency and CTLA-4 insufficiency using an integrative multiomics approach. METHODS:The study combined longitudinal flow cytometry, targeted and single-cell transcriptomics, and plasma proteomics in patients receiving abatacept treatment. RESULTS:Abatacept treatment increased thymic output and expansion of naive T and B cells while reducing memory T-cell subsets, CD4+ T-cell cytokine production, and CD21low B cells. Multimodal transcriptomic and proteomic analyses revealed previously unrecognized immunopathogenic mechanisms, including increased CD28 and T-cell receptor signaling as well as compensatory upregulation of inhibitory checkpoint proteins (LAG3, TIGIT, ADORA2A, VSIR, HAVCR2) in response to CTLA-4 insufficiency. Proteomic profiling confirmed the upregulation of inflammatory mediators, including CHI3L1, CXCL13, and CSF1. Most of these transcriptomic and proteomic abnormalities were reversed after abatacept therapy; notably, gene signatures derived from lymphocytes exhibited greater normalization than those associated with myeloid cells. Furthermore, identified shared and disease-specific molecular signatures distinguished LRBA-deficient patients from those with CTLA-4 insufficiency, revealing more severe immune dysregulation in LRBA deficiency. Single-cell RNA sequencing validated the reversal of checkpoint dysregulation and the expression of inflammation-related genes across lymphoid and myeloid lineages. CONCLUSION:Abatacept effectively corrects key immune circuits in both diseases. This integrative systems-level approach offers new mechanisms and therapeutic targets, supporting personalized intervention strategies.

Bruton’s tyrosine kinase (BTK) is expressed by innate immune cells, and it has been suggested that a lack of BTK may affect monocytes, impacting infection susceptibility and inflammatory response in patients with X-linked agammaglobulinemia (XLA). This study aimed to explore the role of monocyte subsets and monocyte human leucocyte antigen DR (mHLA-DR) expression in patients with XLA. Fifty-nine patients diagnosed with XLA and 37 age-matched healthy subjects were enrolled, and their demographic and clinical features were recorded. Three monocyte subsets were identified—classical (CL) (CD14++CD16−), intermediate (INT) (CD14++CD16+), and non-classical (NC) (CD14lowCD16++)—and their mHLA-DR expressions (mean fluorescence intensity, MFI) were determined by flow cytometry. We evaluated monocyte plasticity as the classical/intermediate monocyte (CMIM) ratio. Patients with XLA comprised 38 children (mean age, 10.46 ± 4.81 years) and 21 adults (25.09 ± 6.18 years). Compared to the control group, patients had decreased classical (p = .012) but increased intermediate and non-classical monocytes (p < .001 and p = .048, respectively). They also presented with increased mHLA-DR expression of total monocytes and their subsets compared to the healthy subjects (p < .05). There were 17 patients with bronchiectasis (28.8

X-linked agammaglobulinemia (XLA) is caused by Bruton tyrosine kinase gene mutations, leading to B-cell deficiency. This study aimed to investigate myeloid-derived suppressor cells (MDSCs) frequency, lymphocyte apoptosis and clinical significance in patients with XLA. The study comprised 46 paediatric (mean age: 9.9 ± 4.8 years) and 21 adult patients (24.6 ± 5.9 years). Total MDSCs (HLA-DR-CD33+CD11b+) were subdivided into CD15+ polymorphonuclear (PMN-MDSCs) and CD14+ monocytic (M-MDSCs) and analysed by flow cytometry. The paediatric XLA patients had increased M-MDSCs and early apoptotic lymphocyte frequency compared to healthy subjects. The mean diagnostic delay was positively correlated with early apoptotic CD3+ and CD4+ T-cells. Seventeen patients (14 adults and 3 children) had bronchiectasis. PMN-MDSCs were higher in adult patients than in paediatric patients. Increased PMN-MDSCs in adults with XLA suggest the presence of chronic inflammation in patients with bronchiectasis. The study findings broaden understanding of XLA's complex immunopathology and highlight the need for more comprehensive immune monitoring of these patients beyond antibody production.

Introduction:Early diagnosis with newborn screening programs and prolonged life expectancy with new treatment strategies have made cardiovascular disease (CVD) one of the important issues in cystic fibrosis (CF). In the early stages of CVD, it is difficult to recognize and follow-up increased arterial stiffness with conventional methods. Different measurement methods are needed. Therefore, in this study, we aimed to use arterial stiffness measurements in the follow-up of children with CF. Materials and Methods:This is a follow-up study examining the changes in arterial stiffness in children with CF by repeating hemodynamic measurements [augmentation index (AIx) and pulse wave velocity (PWV)]. We repeated hemodynamic measurements and CF-related CVD risk factors (Atherosclerosis risk factors: Fasting blood sugar, lipid profiles, and HbA1c) and systemic inflammation markers [C-reactive protein (CRP) and immunoglobulin G and pulmonary function tests] in children undergoing routine annual complication evaluation and examined changes during follow-up. Result:Hemodynamic measurements could be repeated in 37 of 52 patients due to inclusion criteria. Mean age of the study group was 12 ± 4.5 years and 48.6% were female. There was a statistically significant increase in high density lipoprotein, HbA1c, and CRP and a decrease in low density lipoprotein and FEV1 at the follow-up. Heart rate, central blood pressure, augmented pressure, and PWV were similar. AIx, peripheral systolic blood pressure (SBP), and mean arterial pressure were increased significantly (p< 0.05). The increase in AIx was greater than expected for age and greater in female patients and in those with low body mass index, moderate-severe disease, and high CRP levels. Also, the change in AIx was positively correlated with changes in peripheral SBP and CRP. Conclusions:This is the first study to evaluate the use of PWV and AIx in the follow-up of children with CF and showed that arterial stiffness measured with AIx increased at follow-up. The use of markers of arterial stiffness in CF from childhood onwards may enable early detection and monitoring of CVD risk and future prevention.

BACKGROUND:Asthma is a chronic inflammatory disease affecting multiple organ systems, including the central nervous system (CNS). Recent studies suggest an association between asthma and neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Sensory processing disorder (SPD), a neurodevelopmental condition characterized by atypical responses to sensory stimuli, may also be linked to asthma through shared inflammatory mechanisms. OBJECTIVE:This study aimed to investigate the prevalence of SPD in children with asthma as compared to those without asthma and explore its relationship with asthma severity. METHODS:This prospective, cross-sectional study included 182 children aged 5-12 years, with 91 asthmatic children in the study group and 91 nonasthmatic children in the control group. Sensory processing abilities were assessed using the Sensory Processing Measure (SPM) Home-Form. Statistical analyses, including logistic regression and path analysis, were performed to evaluate the association between asthma and sensory processing abnormalities. RESULTS:Atypical sensory processing was significantly more prevalent in asthmatic children compared to the control group across multiple sensory domains, including vision, auditory, tactile, body awareness, balance, and movement (p < 0.005). Logistic regression analysis revealed that asthma was associated with increased risk of atypical sensory processing, particularly in tactile (OR: 5.716, 95% CI: 2.9-11.3 p < 0.001) and balance/movement (OR: 8.8, 95% CI: 2.5-30.7, p = 0.001) domains. However, no significant association was found between asthma severity and SPD prevalence. CONCLUSION:Our findings suggest that children with asthma exhibit a higher prevalence of SPD, supporting the hypothesis that neuroinflammation may contribute to sensory processing abnormalities. These results highlight the need for multidisciplinary approaches in managing asthmatic children, considering both respiratory and neurodevelopmental aspects. Further research is warranted to explore underlying mechanisms and potential interventions.

Background: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored. Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates. Methods: In this multicenter retrospective analysis, we gathered data from 35 patients with a diagnosis of MHC-II deficiency across 12 centers in Turkey. We recorded infection histories, gene mutations, immune cell subsets, and surface MHC-II expression on blood cells. We conducted survival analyses to evaluate the impact of various factors on patient outcomes. Results: Predominant symptoms observed were pneumonia (n = 29; 82.9%), persistent diarrhea (n = 26; 74.3%), and severe infections (n = 26; 74.3%). The RFXANK gene mutation (n = 9) was the most frequent, followed by mutations in RFX5 (n = 8), CIITA (n = 4), and RFXAP (n = 2) genes. Patients with RFXANK mutations presented with later onset and diagnosis compared with those with RFX5 mutations (P =.0008 and .0006, respectively), alongside a more significant diagnostic delay (P = .020). A notable founder effect was observed in five patients with a specific RFX5 mutation (c.616G>C). The overall survival rate for patients was 28.6% (n = 10), showing a significantly higher proportion in individuals with hematopoietic stem cell transplantation (n = 8; 80%). Early death and higher CD8(+) T-cell counts were observed in patients with the RFX5 mutations compared with RFXANK-mutant patients (P = .006 and .009, respectively). Conclusions: This study delineates the genetic and clinical panorama of MHC-II deficiency, emphasizing the prevalence of specific gene mutations such as RFXANK and RFX5. These insights facilitate early diagnosis and prognosis refinement, significantly contributing to the management of MHC-II deficiency. (c) 2024 American Academy of Allergy, Asthma & Immunology

Background/aim: The incidence of cat allergies in children has increased over the years. Children with cat allergies have mostly reported respiratory symptoms. The skin prick test (SPT) is the most preferred method to demonstrate sensitization to allergens. However, not all children who develop cat sensitization due to environmental exposure become allergic to cats. In our study, we aimed to determine the frequency of sensitization to cat and cat allergy, cat-related symptoms, and the cut-off value for the SPT that may indicate cat allergy. Materials and methods: Patients aged 2-18 years, who applied to the Health Sciences University İzmir Dr Behçet Uz Pediatrics and Surgery Training and Research Hospital and Balıkesir University Application and Research Hospital Pediatric Allergy outpatient clinics between January 01, 2019 and December 31, 2020, were included in the study. Patients who underwent SPT and found to be sensitized to cat allergen, were evaluated retrospectively. Clinical and laboratory findings of the patients were recorded. Receiver operating characteristics (ROC) analysis was performed to determine the cut-off value for the SPT. Results: Sensitization to cat was detected in 140 (4%) out of 3499 patients who underwent SPT. The median age of the patients was 12 years (min-max: 5-18) and 67.1% were male. Eighty-eight (62.9%) patients were symptomatic upon contact with cats, predominantly with nasal symptoms. These patients had significantly larger cat SPT wheal size than asymptomatic patients. The cut-off value was determined as 5.5 mm with a sensitivity of 72.7% and a specificity of 61.5% (95% CI, 60.5%-78.4%). Symptoms resolved in about half of our patients by reducing contact with cats. Conclusion: The present study is the first to report the frequency and clinical findings of cat sensitizations and allergies in Turkish children. For effective treatment, cat allergy must be diagnosed. In this regard, the use of a practical, readily accessible 5.5 mm cut-off point on the SPT may be helpful.

OBJECTIVE:The aim of this study is to investigate the long-term prognosis of food protein--induced allergic proctocolitis (FPIAP) patients, the risk of developing both allergic and gastrointestinal diseases, and to evaluate whether it leads to allergic march. METHODS:A total of 149 children who were diagnosed with FPIAP and developed tolerance at least 5 years prior to the study and 41 children (with no history of food allergy) as a control group were enrolled. Both groups were re-evaluated for allergic diseases as well as gastrointestinal disorders. RESULTS:The mean age of diagnosis for the FPIAP group was 4.2 ± 3.0 months, while the mean age of tolerance was 13.9 ± 7.7 months. The mean age of both FPIAP and control groups at the last visit was 101.6 ± 24.4 and 96.3 ± 24.1 months, respectively (P = 0.213). At the final evaluation of both groups, the comorbid allergic disease was significantly higher in the FPIAP group (P < 0.001). There was no significant difference between the two groups in terms of functional gastrointestinal disorders (FGIDs), eosinophilic gastrointestinal diseases, and inflammatory bowel disease (P = 0.198, 0.579, and 0.579, respectively).In the FPIAP group, the allergic disease was significantly higher at the final visit in patients with comorbid allergic disease at diagnosis (P < 0.001). In the FPIAP group, FGID was significantly higher in the group that developed allergic diseases in the future, compared to the group that did not develop allergic diseases in the future (P = 0.034). The proportion of both FGID and allergic diseases was significantly higher in subjects that developed tolerance at >18 months, compared to subjects that developed tolerance at >18 months (P < 0.001 and <0.001, respectively). CONCLUSIONS:Patients with FPIAP may develop allergic diseases as well as FGID in the long term.

Objective: In a large group of patients with primary immunodeficiency (PID), immunoglobulin replacement therapy is critical for infection control. There are two main methods of immunoglobulin replacement intravenous (IVIG) and subcutaneous (SCIG). The aim of this study was to determine the efficacy of SCIG by comparing IgG levels and frequency of infections obtained during SCIG replacements in patients with PID with those obtained during IVIG administration. Method: Immunoglobulin levels of 28 patients who were followed up in our clinic with a diagnosis of PID and who started IVIG replacement and switched to SCIG replacement after follow-up, were evaluated retrospectively. Serum IgG levels and frequency of infections before starting immunoglobulin treatment, the previous year of IVIG before starting SCIG replacement, and during the first six months, second six months, and second year of SCIG replacement were compared. Results: The mean age of all the patients that received SCIG was 10.5 years (min 15 months, max 23 years) and eleven of the patients were female. The mean serum IgG level of the patients before starting immunoglobulin replacement was 701±383 mg/dl, and for the final year they received IVIG replacement before switching to SCIG replacement it was calculated to be 900±342 mg/dl. The mean value was found to be 1082±312 mg/dl in the first six months after the initiation of SCIG, 1102±287 mg/dl in the second six months, and 1145±311 mg/dl in the second year. Serum IgG levels of the patients were significantly higher during IVIG and SCIG replacement than before treatment (p<0.05). Serum IgG levels during the first six months, second six months, and second year of SCIG treatment were significantly higher than levels during IVIG treatment (p=0.000, p=0.003, and p=0.002, respectively). Conclusion: Compared to IVIG replacement, significantly higher and more stable serum IgG levels can be obtained with SCIG replacement. This is expected to ensure improved outcomes in the management of infections in PID patients.

A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.