Search

IntroductionCow's milk protein allergy (CMPA) is the most commonly encountered food allergy in the world, usually seen in infants under the age of 2 years. This study aims to determine the factors including COVID-19 affecting formula compliance of CMPA patients.MethodsThis study is a prospective, observational study based on 10 different Paediatric Allergy-Immunology clinics in Turkey. Patients aged between 6 months and 2 years, who were followed up with IgE-mediated CMPA treatment or newly diagnosed and using breast milk and/or formula were included in the study. The sociodemographic characteristics of the patients, their symptoms, the treatments they received, and the effects of the COVID-19 pandemic on adherence to formula were evaluated with a questionnaire administered to the parents.ResultsThe compliance rate for formula-based treatment was 30.8% (IQR: 28.3, SD: 21.86). The number of patients with a single and multiple food allergy was 127 (51.6%) and 71 (28.9%), respectively. Breastfeeding duration, daily amount of prescribed formula and addition of sweetener to the formula were found to reduce compliance (p = 0.010, p = 0.003, and p = 0.004, respectively). However, it was determined that the patient's height, weight, age at diagnosis, and age of formula onset did not have a significant effect on compliance.ConclusionIt was found that the duration of breastfeeding, the increase in the daily amount of formula requirement, and the addition of sweeteners had adverse effects on formula compliance. There was no significant correlation between the formula adherence of CMPA patients and the pandemic.

Objective: Increased health literacy (HL) improves the management of chronic diseases. Data on the HL levels of adolescents with asthma are limited. In this study, we aimed to investigate the HL levels of adolescents with asthma and the effect of HL levels on asthma control. Methods: Our research included 81 adolescents with asthma and 47 age and sex-matched controls. The validated version of the European Health Literacy Survey Questionnaire (HLS-EU-Q16) was utilized to estimate the participants’ health literacy levels. In addition, the Asthma Control Test (ACT) was used to determine the degree of asthma control. Results: No significant difference between the asthmatic adolescents (n = 45, 55.6%) and the control group (n = 28, 59.6%) has been established in terms of the number of participants who were considered to have adequate HL (p = 0.658). The difference between the patient and control groups in health care, disease prevention, health promotion, and overall HL scores was determined non-significant. According to the ACT scores, the overall median HL score was significantly higher in patients with controlled asthma {34.4 (14.6:50)} than in those with uncontrolled asthma {32.3 (16.7:48.9)} (p = 0.037). It was determined that there was a difference in the distribution of controlled asthma, uncontrolled asthma, and controls in HL subgroups (poor, problematic-limited, sufficient, and perfect HL) (p = 0.002). Conclusion: The level of HL is associated with asthma control. A significant proportion of asthmatic adolescents who participated in our research displayed low HL scores. Further studies should be conducted to increase the HL levels of adolescents to achieve better asthma control.

BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established.

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n = 4), CD40L (n = 1), ICOS (n = 1), IGHM (n = 1), and TCF3 (n = 1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2-10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs. Istanbul University ; Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) ; Istanbul Bilgi University

kiykim, ayca/0000-0001-5821-3963; Baris, Safa/0000-0002-4730-9422; AGREBI, Nourhen/0000-0001-5703-9668; Ayaz, Nuray Aktay/0000-0003-3594-7387; Cekic, Sukru/0000-0002-9574-1842; Karaca, Neslihan/0000-0002-2202-7082; Kara, Emine Manolya/0000-0001-6234-7024; /0000-0002-9065-1901; Lo, Bernice/0000-0002-1087-6845, WOS: 000495746100038, PubMed: 31238161, BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. the long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established. OBJECTIVE: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations. METHODS: Twenty-two LRBA-deficient patients were recruited from different immunology centers and followed prospectively. Eighteen patients on abatacept were evaluated every 3 months for long-term clinical and immunologic responses. LRBA expression, lymphocyte subpopulations, and circulating T follicular helper cells were determined by flow cytometry. RESULTS: the mean age of the patients was 13.4 +/- 7.9 years, and the follow-up period was 3.4 +/- 2.3 years. Recurrent infections (n = 19 [86.4%]), immune dysregulation (n = 18 [81.8%]), and lymphoproliferation (n = 16 [72.7%]) were common clinical features. the long-term benefits of abatacept in 16 patients were demonstrated by complete control of lymphoproliferation and chronic diarrhea followed by immune dysregulation, most notably autoimmune cytopenias. Weekly or every other week administration of abatacept gave better disease control compared with every 4 weeks. There were no serious side effects related to the abatacept therapy. Circulating T follicular helper cell frequencies were found to be a reliable biomarker of disease activity, which decreased on abatacept therapy in most subjects. However, high circulating T follicular helper cell frequencies persisted in 2 patients who had a more severe disease phenotype that was relatively resistant to abatacept therapy. CONCLUSIONS: Long-term abatacept therapy is effective in most patients with LRBA deficiency. (C) 2019 American Academy of Allergy, Asthma & Immunology, Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [217S847]; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [5R01AI085090]; NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASESUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [R01AI085090, R01AI085090, R01AI065617, R01AI065617, R01AI085090, R01AI085090, R01AI065617, R01AI065617] Funding Source: NIH RePORTER, This work was supported by grants from the Scientific and Technological Research Council of Turkey (grant no. 217S847 to S.B.) and the National Institutes of Health (grant no. 5R01AI085090 to T.A.C.).