Hossein Esmaeilzadeh

Background: Ataxia telangiectasia (AT) is a life‐threatening multisystem disorder characterized mainly by neurologic manifestations, infections, and malignancy. We aimed to present a comprehensive analysis of demographic, clinical, immunologic, and genetic features and outcomes of patients with AT in Iran. Methods: We conducted a retrospective cohort study of 305 registered patients with AT enrolled through a national referral network (2002–2025). Diagnosis was established according to the European Society for Immunodeficiencies criteria. Results: Mean age at diagnosis and mean age at onset were 72.0 (±46.0) and 25.2 (±35.57) months, respectively. A substantial proportion of patients presented with non‐neurological manifestations as their first clinical feature (43.9%). Among non‐neurological manifestations, pneumonia was the second most common initial manifestation (13%) and the most frequent infectious complication (30.2%). Variants classified as severe under the predicted loss‐of‐function (PVS1) criteria were identified in 104 patients, representing 83.8% of those who underwent genetic evaluation. Immunoglobulin abnormalities were detected in 84.7% of patients. A notable proportion of patients showed class switching recombination defects (45.6%), which were associated with a higher burden of clinical morbidity. Median age at death was 12.8 years (95% CI, 11.0–15.0), and the estimated overall survival rates at 5 and 10 years were 81.6% and 60.2%, respectively. Malignancy (28.9%) and respiratory tract infections (20.0%) were the most common causes of death, respectively. Conclusion: This large national cohort provides a comprehensive characterization of the clinical, immunologic, and genetic landscape of AT and its determinants of outcome, thereby improving diagnostic recognition, risk stratification, and patient management.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and a heig

Background: Chronic idiopathic urticaria (CIU) is a debilitating condition characterized by recurrent hives, itching and angioedema lasting for more than 6 weeks without an identifiable cause. It significantly impacts quality of life, causing physical discomfort and emotional distress. CIU’s complex pathophysiology involves immune interactions, mast cells and histamine release, with aeroallergens potentially exacerbating symptoms in sensitized patients. Current treatments primarily involve antihistamines, but many patients experience inadequate relief, prompting the exploration of alternative therapies. Intranasal corticosteroids, typically used for allergic rhinitis, may offer potential benefits for CIU, although evidence of their efficacy is limited. Objectives: To investigate the effect of intranasal corticosteroids in adults with CIU who had a positive skin prick test for aeroallergens. Methods: In this double-blind placebo-controlled trial, 69 adults with CIU sensitized to aeroallergens received budesonide 32 µg per actuation, 2 sprays per nostril twice daily or identical placebo for 6 months while maintained on a stable single-agent nonsedating H1 antihistamine. Participants were randomly assigned to receive either budesonide or placebo. Outcomes included changes in urticaria symptoms and Urticaria Severity Score and quality of life. The study was registered with the Iranian Registry of Clinical Trials (IRCT 20231229060563N1). Results: At baseline, both groups were comparable. Post-treatment, participants in the corticosteroid group showed a greater reduction in Urticaria Activity Score (mean difference = 4.25, P = 0.02). No significant difference was found in chronic urticaria quality of life questionnaire scores (mean difference = 4.74, P = 0.35). Conclusions: Intranasal corticosteroids were effective in reducing urticaria symptoms but did not offer significant benefits over placebo with regard to overall quality of life. The results highlight the complexity of CIU management and suggest a potential placebo effect.

Fractional exhaled nitric oxide (FeNO) has emerged as a potential biomarker for differentiating between various causes of non-chronic cough, particularly in conditions associated with airway inflammation, such as asthma. This study aimed to evaluate the diagnostic efficacy of FeNO in pediatric patients with non-chronic cough and its ability to differentiate between asthma exacerbations and respiratory tract infections. Seventy-five pediatric patients aged 10-18 years with non-chronic cough were categorized into three groups: good control asthma (GCA, n=28), acute asthma exacerbation (AAE, n=26), and respiratory tract infection (RTI, n=21). Clinical assessments included FeNO measurement, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), white blood cell (WBC) count, hemoglobin (HB), platelet count (PLT), and immunoglobulin E (IgE) levels. Univariate and multivariate multinomial logistic regression models were applied to assess the predictive value of these variables. FeNO levels were significantly higher in the AAE group (46.58±22.66 ppb) compared to the GCA and RTI groups, indicating elevated eosinophilic airway inflammation in asthma exacerbations. CRP was a significant predictor of both AAE and RTI, with a one-unit increase in CRP increasing the odds of exacerbation or infection by 2.6-fold. Body max index (BMI) was inversely associated with the risk of RTI. Hemoglobin, platelet count, and IgE levels were significantly higher in the AAE group compared to the other groups, while WBC counts, though elevated, were not statistically significant. FeNO associated with other inflammatory markers, including CRP and BMI, could enhance diagnostic accuracy and inform clinical decision-making in managing pediatric respiratory conditions. To confirm these results, future studies with larger sample sizes should be performed.

Background: Chronic rhinosinusitis with nasal polyposis (CRSwNP) causes inflammatory nasal polyps, with an unknown cause. CRSwNP patients face a higher relapse risk, impacting their quality of life. This study assesses omalizumab’s efficacy in reducing nasal polyp recurrence, aiming to provide insights into managing CRSwNP and improving patient outcomes through potential therapeutic interventions. Methods: The Iranian clinical trial (IRCT20220218054057N1) approved in January 2023 focused on adult patients (18-60 years) with CRSwNP. Participants were randomized into control and omalizumab groups. Before the intervention, demographic data, Sino-nasal outcome test (SNOT-22), Total nasal symptom score (TNSS), Nasal polyp score (NPS), and blood IgE levels were collected. An oral aspirin challenge diagnosed AERD. Both groups were monitored, completing questionnaires during and 12 months post-study initiation. Recurrence of nasal polyps was examined at the 1-year mark. SPSS version 25 was used for analysis. The trial aimed to assess omalizumab’s impact on CRSwNP, considering various factors and long-term outcomes. Results: In a study with 76 participants (50 control, 26 omalizumab), aged around 45.62 and 41.50 years, without significant difference in gender and number of polyp surgeries in both groups. Both groups experienced a notable decrease in NPS, with the omalizumab group showing a greater reduction (−1.31 vs −0.90, P < .001). TNSS scores dropped more in the omalizumab group (−4.54) than in the control group (−2.04) at week 24. SNOT-22 scores decreased significantly from baseline to week 24 for both groups. Notably, nasal polyp relapse occurred in 9 control patients but none in the omalizumab group ( P < .001). No significant differences were observed between AERD and non-AERD patients. Conclusion: Omalizumab is an effective treatment for CRSwNP, significantly improving the quality of life of patients post-surgery, especially TNSS score, and reducing regeneration of polyp tissue and relapse frequency in nasal endoscopy.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by immunodeficiency, leading to increased susceptibility to mycobacterial infections. Studies have identified several genes that are associated with MSMD in the interferon-gamma/interleukin (IL)-12/IL-23 signaling pathway. One of these genes is signal peptide peptidase-like 2A (SPPL2A), which is very rare, and defects in this gene have been reported only in 3 patients with MSMD. This case report presents the rare SPPL2A deficiency with an abnormal presentation, which adds to the limited number of these genetic defects. This report presents the case of a 1-year-old boy who developed Bacillus Calmette-Guerin infection (BCGitis), lymphadenopathy, and an arm abscess that required surgical drainage following BCG vaccination. The patient had hypogammaglobulinemia, normal B-cell counts, normal CD4 counts, low CD8 counts, and SPPL2A deficiency, which is related to MSMD. The patient received a second line of anti-tuberculosis agents. SPPL2A deficiency is associated with MSMD and can cause severe BCGitis and disruption of immunoglobulin production.

Chronic rhinosinusitis is divided into two groups, which are Chronic rhinosinusitis with nasal polyps (CRSwNP) and without nasal polyps (CRSsNP). The rate of post-surgical recurrence in the CRSwNP is high, and predicting factors are unknown. This study aims to identify and evaluate risk factors associated with treatment-resistant and recurrent CRSwNP. This cross-sectional study evaluates demographic data and atopic risk factors in patients with CRSwNP, including a high IgE level (≥100 U/mL), skin prick test (SPT) for aeroallergens, aspirin-exacerbated respiratory disease (AERD), and asthma prevalence. An oral aspirin challenge was performed to diagnose AERD. 191 patients with CRSwNP were enrolled, with 73 patients in the recurrent, and 118 patients in the non-recurrent group. The mean age of the patients in the recurrent group was 45.08±12.05. The mean age of the patients in the non-recurrent group was 42.89±11.73. 49. Asthma prevalence in recurrent- CRSwNP is significantly higher than non-recurrent CRSwNP Asthma severity in recurrent CRSwNP and AERD patients was significantly higher than in nonrecurrent CRSwNP and non-AERD patients. The level of IgE in the recurrent- CRSwNP is higher than non-recurrent CRSwNP. Positive SPT results for tree, weed, and mite allergens were higher in the non-recurrent- CRSwNP group compared to the recurrent CRSwNPgroup. Asthma had a significantly higher difference in AERD compared to non-AERD. The level of IgE in AERD is higher than non-AERD. Recurrent CRSwNP patients and AERD patients had Higher IgE levels. Asthma is more prevalent and more severe in both AERD and recurrent CRSwNP. However, a positive SPT result has been seen higher in non-recurrent CRSwNP.

Background: Face mask is the first line to protect the respiratory mucosa from the coronavirus particles in aerocells and droplets and without this, the exposure of the mucosa to the virus and allergens trigger the immune and inflammatory system. These lead to Allergic Rhinitis (AR) symptoms or virus infection.Aim: This study discusses about the effects of face mask on the severity of AR symptoms using the Sino‐Nasal Outcome Test (SNOT‐22) in AR cases during the Corona Virus Disease 2019 (COVID‐19) pandemic.Method: In this cross‐sectional study, 54 cases previously diagnosed as moderate and severe AR based on Allergic Rhinitis and its Impact on Asthma and Visual Analog Scale score referred to the tertiary allergy clinic were involved, while 5 of them were excluded. AR symptoms before and during the pandemic were compared based on the SNOT‐22 questionnaire. Demographics, AR severity, and comorbidities were registered.Results: The mean age was 31.4 ± 13.5 years with the male−female ratio of 1.4. The mean SNOT‐22 score was 36.1 ± 20.3 before and 29.5 ± 16.8 during the pandemic. Although 36.7% (n: 18) of all participants had severe symptoms before the pandemic, 10.2% (n: 5) had severe AR symptoms during the pandemic. 53.0% (n: 26) of patients had moderate AR symptoms, and 36.7% (n: 18) had mild AR symptoms in the pandemic. There was no significant difference between each paired subgroup in AR symptom changes but the symptom improvement was significant in most of the subgroups when compared to the pre‐pandemic period. Smoking had an adverse effect on AR symptoms (p: 0.034).Conclusion: Face mask affects the quality of life in AR patients and improves the severity of AR symptoms during COVID‐19 pandemic. Smoking worsens this severity. Age, gender, pet ownership, underlying conditions, and previous COVID‐19 infection were not associated with AR symptoms severity and alteration in the AR individuals' quality of life during the COVID‐19 pandemic.

Background: Chronic urticaria is a common distressing allergic skin disorder. Immune dysregulation, histamine release and mast cell degranulation are suggested as its underlying mechanisms. Objective: Add-on therapy of vitamin D was evaluated in patients with chronic spontaneous urticaria to determine the quality of life and urticaria severity score. Methods: In a prospective, double-blinded study, 80 participants with chronic spontaneous urticaria were randomized to low (4200 IU/week, group 1) and high (28,000 IU/week, group 2) vitamin D3 supplementation groups for 12 weeks. Demographic data; quality of life, urticaria severity and medication scores; 25-hydroxyvitamin D and anti-thyroid peroxidase antibody levels; and autologous serum skin test data were collected. Results: Both groups showed significantly reduced total urticaria severity score; decrement in group 2 score was significant compared to group 1 at week 6 (P = 0.010). Quality of life score was also significantly reduced; decrement in group 2 score was significant compared to group 1 at both weeks 6 (P = 0.005) and 12 (P = 0.007). 25-hydroxyvitamin D levels were elevated significantly over the course of 12 weeks in both groups; however, the elevation in group 2 was significantly higher than group 1 at week 12 (P = 0.002). Medication score was significantly reduced, with no significant difference between groups. No association was observed between positive autologous serum skin test, angioedema and high level of Anti thyroperoxidase antibody with positive response to vitamin D. Conclusion: Add-on therapy with vitamin D (28,000 IU/week) can be considered as a safe and potentially beneficial treatment in patients with chronic spontaneous urticaria.

Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven‐year‐old boy with SRD5A3‐CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.