BackgroundA higher prevalence of coeliac disease (CD) has been reported in patients with Williams-Beuren syndrome (WBS), though coexistence with other autoimmune diseases has not been evaluated.Objective: The aim of this study was to examine the prevalence of the more frequent autoimmune diseases and organ- and non-organ specific autoantibodies in WBS.MethodsWe longitudinally analysed 46 WBS patients to evaluate the prevalence and co-occurrence of the major autoantibodies and HLA typing for CD diagnosis. These data were compared with healthy age- and sex-matched controls and Down (DS) and Turner (TS) syndrome patients.ResultsCD was diagnosed in one (2.2%) WBS patient; this differed significantly from DS and TS (respectively, 10.5% and 9.4%; P < 0.005) but not from healthy controls (0.6%; P = NS). However, no patients with WBS showed anti-thyroid antibodies or other organ- and non-organ specific autoantibodies, which differed significantly from DS (respectively, 10.5% and 7.0%; P < 0.005) and TS (respectively, 9.4% and 9.3%; P < 0.005) patients but not from healthy controls (1.1% and 2.3%). The frequencies of CD-specific HLA-DQ heterodimers were not significantly higher than controls, even though the WBS patients more frequently carried the DQA1*0505 allele (57% vs. 39%; P < 0.05).ConclusionsCD may not be more frequent in patients with WBS. In fact, no evidence of a significantly higher prevalence of other autoimmune diseases or positivity of the main organ and non-organ specific autoantibodies was found in WBS, such as showed in the healthy controls and unlike by the patients with Turner or Down syndrome. This should prompt us to better understand the occurrence of CD in WBS. Other studies or longer follow-up might be useful to clarify this issue.
Background: Nut allergies are an increasingly frequent health issue in the pediatric population. Tree nuts (TN) and peanuts are the second cause of food anaphylaxis in Italy. Unfortunately, knowledge of the clinical characteristics of a TN allergy in Italian children is limited. Our study aimed to identify the clinical and allergological characteristics of Italian children with a nut allergy (TN and peanut). Methods: A retrospective observational analysis was performed on the clinical charts of children with a history of nut reaction referred to the allergy unit of the hospital from 2015 to 2019. The studied population was represented by children with a confirmed nut allergy based on positive prick by prick and/or serum-specific IgE to nut plus a positive nut oral food challenge. Demographic, clinical, and allergological features were studied and compared among different nuts. Results: In total, 318 clinical charts were reviewed. Nut allergy was confirmed in 113 patients. Most patients (85/113, 75%) had a familial history of allergy and/or a concomitant allergic disorder (77/113, 68%). Hazelnut and walnut were the more common culprit nuts observed in allergic children. Anaphylaxis was the first clinical manifestation of nut allergy in a high percentage of children (54/113, 48%). The mean age of the first nut reaction was statistically higher with pine nuts. Over 75% of children reported a single nut reaction. During the OFCs, the signs and symptoms involved mainly the gastrointestinal system (82/113, 73%) and resolved spontaneously in most cases. Severe reactions were not frequent (22/113, 19%). Conclusion: To our knowledge, this is the first Italian study that provided a comprehensive characterization of children with a nut allergy. These results are important for clinicians treating children with a nut allergy.
Introduction: Genetic variability related to the host immune system has been proposed as one of the most influential factors in the development of diseases caused by HPV. Clinical case: We report the case of a 5-year-old child in whom chronic laryngeal papillomatosis, probably acquired vertically during labor, was detected. The diagnosis of laryngeal papillomatosis was confirmed with a biopsy after a first surgery to remove the papillomas. The Derkay classification system was used to assess the severity of papillomatosis. Biopsy genotyping was performed by demonstrating HPV-6. Later, HLAD-QA1*0505, -DQB1*0301, -DRB1*1101 alleles were homozygous for HLA allele typing. Conclusions: Further studies are needed to identify the most prevalent HLA alleles in the Latino population and their potential association with genetic susceptibility in Recurrent Respiratory Papillomatosis.
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