Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.

PURPOSE: Autosomal recessive dedicator of cytokinesis 8 (DOCK8-/-) and autosomal dominant signal transducer and activator of transcription 3 (STAT3-/+) deficiencies are inborn errors of immunity (IEI) disorders present with the classic features of eczema and create a dilemma during differentiation from atopic dermatitis (AD). Therefore, an appropriate approach is required for eczema to diagnose DOCK8-/- and STAT3-/+ early. Here, we described a set of clinical and immunological variables, including atypical AD localizations and lymphocyte subsets, to differentiate DOCK8-/- or STAT3-/+ from AD. METHODS: This multicenter study involved 100 patients with DOCK8-/- and STAT3-/+ and moderate/severe AD. We recruited disease manifestations, including detailed localizations of eczema, infections, and allergy. Principle component analysis (PCA) was used to discriminate DOCK8-/- or STAT3-/+ from AD. RESULTS: There were 43 patients with DOCK8-/-, 23 with STAT3-/+, and 34 with AD. Pneumonia, severe infections, mucocutaneous candidiasis, and skin abscesses were commonly observed in DOCK8 and STAT3 deficiencies. Atypical skin involvement with neonatal rash, retro auricular, axillary, sacral, and genital eczema discriminate DOCK8-/- and STAT3-/+ from AD with high specificity ranges between 73.5 and 94.1% and positive predictive index ranges between 55 and 93.1%. Together with using absolute numbers of CD3+, CD4+, and CD8+ T cells, the combined clinical and laboratory features showed perfect differentiation between DOCK8-/- or STAT3-/+ and AD via PCA. CONCLUSIONS: The described features can be easily implemented by physicians providing early diagnosis of DOCK8 and STAT3 deficiencies.

A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.

Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD. Recurrent upper respiratory tract infection and pneumonia were significantly frequent in HIES than SAD patients. Characteristic facial appearance, retained primary teeth, skin abscess, newborn rash, and pneumatocele were more predictable for STAT3-HIES, while mucocutaneous candidiasis and Herpes infection were common in DOCK8 deficiency, which were unusual in SAD group. DOCK8-deficient patients had lower CD3+ and CD4+T cells with a senescent phenotype that unique for this form of HIES. Both DOCK8 deficiency and STAT3-HIES patients exhibited reduced switched memory B cells compared to the SAD patients. These clinical and laboratory markers are helpful to differentiate HIES from SAD patients.

Proven Food-Induced Acute Urticaria and Predictive Factors for Definitive Diagnosis in Childhood.

BACKGROUND: Urticaria can be the only sign of a food allergy or can be seen together with other signs and symptoms of a food allergy. OBJECTIVE: To determine the demographic, etiologic, and clinical features of food-induced acute urticaria in childhood. METHODS: Patients suspected of food-induced acute urticaria were included in this prospective cross-sectional multicenter study. RESULTS: Two hundred twenty-nine urticaria cases were included in this study. Seventeen patients who did not meet the inclusion criteria of the study were excluded. Of the 212 included cases, 179 (84.4%) were diagnosed with definitive food-induced acute urticaria. The most common foods causing acute urticaria were cow's milk, hen's eggs, and nuts in 56.4, 35.2, and 19% of cases, respectively. The positive predictive value of a history of milk-induced acute urticaria together with a milk-specific IgE >5 kU/L for cow's milk-induced acute urticaria was 92% (95% CI: 81-96%). A history of cow's milk-induced and/or hen's egg-induced acute urticaria was consistent with a definitive diagnosis of food-induced urticaria (Chen's kappa: 0.664 and 0.627 for milk and eggs, respectively). Urticaria activity scores were higher in patients with food-induced acute urticaria (p = 0.002). CONCLUSION: Cow's milk, hen's eggs, and nuts were the most common allergens in the etiology of childhood food-induced acute urticaria. Although the urticaria activity score provides guidance for diagnosis, an oral food challenge is often essential for the definitive diagnosis of a patient with a history of food-induced acute urticaria.

Food-induced anaphylaxis in early childhood and factors associated with its severity.

Background: Several factors that increase the risk of severe food-induced anaphylaxis have been identified. Objective: We aimed to determine the demographic, etiologic, and clinical features of food-induced anaphylaxis in early childhood and also any other factors associated with severe anaphylaxis. Methods: We carried out a medical chart review of anaphylaxis cases from 16 pediatric allergy and immunology centers in Turkey. Results: The data of 227 patients with 266 food-induced anaphylaxis episodes were included in the study. The median (interquartile range) age of the first anaphylaxis episode was 9 months (6-18 months); 160 of these patients were boys (70.5%). The anaphylaxis episodes were mild in 75 cases (28.2%), moderate in 154 cases (57.9%), and severe in 37 cases (13.9%). The most frequent food allergens involved were cow's milk (47.4%), nuts (16.7%), and hen's egg (15.8%). Epinephrine was administered in only 98 (36.8%) of these anaphylaxis episodes. A logistic regression analysis revealed two statistically significant factors that were independently associated with severe anaphylaxis: the presence of angioedema and hoarseness during the anaphylactic episode. Urticaria was observed less frequently in patients who developed hypotension. In addition, confusion and syncope were associated with 25.9- and 44.6-fold increases, respectively, in the risk of concomitant hypotension. Conclusion: Cow's milk, nuts, and hen's egg caused the majority of mild and moderate-to-severe anaphylaxis episodes. The presence of angioedema and hoarseness in any patient who presents with a history of food-induced anaphylaxis should alert clinicians that the reaction may be severe. In addition, the presence of confusion, syncope, or stridor probably indicates concomitant hypotension.

Assessment of regular drug use and inhaler technique skills in asthmatic children.

OBJECTIVE: This study aimed to assess the regular use of long-term asthma-control medication and to determine inhaler techniques in asthmatic children. METHODS: The study was conducted on asthmatic children aged 6-18 years. Information on rescue and controller medications was given and the proper inhalation technique was demonstrated. One month later, patients and parents were asked to answer a questionnaire on drug use and to demonstrate their inhaler techniques. RESULTS: One hundred children and/or their parents were interviewed for the study. All of the patients identified long-term asthma-control medications while quick-relief asthma medications were identified by 93% of the patients. Of the patients, 34% described the dose of their quick-relief medication correctly. All steps in the inhalation technique were correctly carried out by 60.6% of patients using a metered-dose inhaler (MDI), 80% of patients using a Turbuhaler, and 58% of patients using a capsule-based dry-powder inhaler (DPI). Of the participants, 73% reported regular use of long-term asthma-control medications. While the mean age of the patients regularly using long-term asthma medications was 9.05±2.5 years, that of patients not compliant with the regular treatment was 10.29±3.26 years (p=0.04). The most common reason for irregular drug use was forgetting to take the drug. CONCLUSION: Adherence to long-term asthma-control medications tends to be better in younger patients. Since the most common cause of irregular drug use is forgetting to take the drug, repeated training is necessary to ensure asthma control and the successful treatment of asthmatic children.

Retrospective evaluation of adverse reactions after subcutaneous allergen-specific immunotherapy in children with house dust mite allergy.

OBJECTIVE: Although it is accepted as an effective and safe treatment way, side effects can be observed as a result of subcutaneous immunotherapy (SCIT). In our study, it was aimed to evaluate the local and systemic reactions in children after SCIT and the factors that may be associated with these reactions. METHODS: Our study included 138 house dust mite allergic patients with asthma and/or allergic rhinitis who underwent SCIT in the Pediatric Allergy and Immunology Outpatient Clinic between November 2013 and April 2022. Sociodemographic, clinical, laboratory features, and development of adverse reactions after SCIT were analyzed from patient files. RESULTS: The median age of 138 patients was 9.0 years. About 56.5% (n=78) were male, 43.5% (n=60) were female. Of the patients, 55.1% (n=76) had asthma and allergic rhinitis. A total of 7366 SCIT injections were administered to all patients in our clinic. The total number of observed adverse reaction was 118. 50.7% of the patients (n=70) experienced at least one adverse reaction after SCIT. The rate of development of adverse reactions per injection was 1.6% (local: 1.0%, large local: 0.1%, systemic: 0.5%). CONCLUSION: Although serious systemic reactions and death were not observed in our patients; care should be taken in terms of the development of adverse reactions during SCIT in children.

Assessment of regular drug use and inhaler technique skills in asthmatic children

OBJECTIVE: This study aimed to assess the regular use of long-term asthma-control medication and to determine inhaler techniques in asthmatic children. METHODS: The study was conducted on asthmatic children aged 6-18 years. Information on rescue and controller medications was given and the proper inhalation technique was demonstrated. One month later, patients and parents were asked to answer a questionnaire on drug use and to demonstrate their inhaler techniques. RESULTS: One hundred children and/or their parents were interviewed for the study. All of the patients identified long-term asthma-control medications while quick-relief asthma medications were identified by 93% of the patients. Of the patients, 34% described the dose of their quick-relief medication correctly. All steps in the inhalation technique were correctly carried out by 60.6% of patients using a metered-dose inhaler (MDI), 80% of patients using a Turbuhaler, and 58% of patients using a capsule-based dry-powder inhaler (DPI). Of the participants, 73% reported regular use of long-term asthma-control medications. While the mean age of the patients regularly using long-term asthma medications was 9.05 ± 2.5 years, that of patients not compliant with the regular treatment was 10.29 ± 3.26 years (p = 0.04). The most common reason for irregular drug use was forgetting to take the drug. CONCLUSION: Adherence to long-term asthma-control medications tends to be better in younger patients. Since the most common cause of irregular drug use is forgetting to take the drug, repeated training is necessary to ensure asthma control and the successful treatment of asthmatic children

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