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American Journal of Medical Genetics.... Oct 2014The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages,... (Review)
Review
The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms.
Topics: Cleft Palate; Ectodermal Dysplasia; Humans; Immunologic Deficiency Syndromes; Respiratory Mucosa; Respiratory System; Respiratory Tract Diseases
PubMed: 24842607
DOI: 10.1002/ajmg.a.36600 -
Postepy Dermatologii I Alergologii Jun 2019The relationship between allergic and autoimmune diseases is an important issue, which has recently attracted the researchers' interest.
INTRODUCTION
The relationship between allergic and autoimmune diseases is an important issue, which has recently attracted the researchers' interest.
AIM
To determine the relationship between atopy and psoriasis.
MATERIAL AND METHODS
This case-control study was conducted on 102 patients referred to the Ghaem Hospital, Mashhad, Iran, in 2016. The participants were assigned into two groups: experimental and control groups, including the patients suffering from psoriasis and those with no history of cutaneous or other systemic diseases, respectively. Both groups filled in the ISAAC questionnaire and had skin prick tests. In addition, the serum levels of immunoglobulin E (IgE) and blood eosinophil cell count were measured. The data were analysed using the regression test through SPSS version 16.
RESULTS
According to the results of the ISAAC questionnaire, there was a significant difference between the control and experimental groups in terms of asthma ( = 0.04). The mean serum concentrations of IgE and eosinophil cell count were not significantly different between the experimental (153.93 IU/ml and 187.77 cells/μl, respectively) and control groups (152.19 IU/ml and 187.68 cells/μl, respectively) ( = 0.057 and = 0.886, respectively). In addition, there was an indirect correlation between the eosinophil cell count and psoriasis severity ( = 0.032, = -0.297). Furthermore, the comparison of the skin prick test results revealed no significant difference between the two groups regarding the number of positive and negative cases ( = 0.436).
CONCLUSIONS
The findings suggested that atopy was not common in the patients with psoriasis and supported the concept that atopy protects against such autoimmune diseases such as psoriasis.
PubMed: 31333344
DOI: 10.5114/ada.2019.85639 -
Frontiers in Pediatrics 2017Asthma is a common condition, which is associated with atopy and allergic conditions including hay fever, eczema, and food allergies. Asthma and atopy are both complex... (Review)
Review
Asthma is a common condition, which is associated with atopy and allergic conditions including hay fever, eczema, and food allergies. Asthma and atopy are both complex conditions where genetic and environmental factors are implicated in causation. Interactions between genetic and environmental factors, likely epigenetic mechanisms, are widely thought to be important in determining the risk for developing asthma and atopy. The nature of the relationship between asthma and atopy is unclear and the answer to the question "does atopy cause asthma?" remains unknown. This review explores the relationship between asthma and atopy from a gene-environment interaction perspective and tackles the question "are similar gene-environment interactions present for asthma and atopy?" The main finding is that gene-environment interactions are described for asthma and atopy in children but these interactions are seldom sought for both asthma and atopy in the same population. In the few instances where a gene-environment interaction is related to both asthma and atopy, there is no consistent evidence that similar interactions are common to asthma and atopy. Many plausible gene-environment interactions for asthma and atopy are yet to be explored. Overall, from the gene-environment interaction perspective, there is absence of evidence to better understand the complex relationship between asthma and atopy.
PubMed: 28589116
DOI: 10.3389/fped.2017.00118 -
Journal of Psychosomatic Research Jul 2022Several studies suggest a relationship between atopy and psychiatric disorders, but few have investigated the association between atopic conditions and posttraumatic...
OBJECTIVE
Several studies suggest a relationship between atopy and psychiatric disorders, but few have investigated the association between atopic conditions and posttraumatic stress disorder (PTSD). We sought to compare the rates of atopy and allergies in a South African case-control study of 220 patients with PTSD (mean age 41.7 years, SD = 11.7) and 196 trauma exposed controls (TEC, mean age 45.4 years, SD = 14.7) conducted in Cape Town, South Africa from May 2014 to June 2017.
METHODS
Self-reported atopic conditions and allergies were regressed on PTSD, as determined with the Clinician-Administered PTSD Scale for DSM-5 (CAPS-5), in multivariate logistic regression models, controlling for age, gender, body mass index, physical activity, lifetime and childhood trauma, and time since index trauma.
RESULTS
Rates of lifetime atopy (p = 0.03), current asthma (p = 0.04), lifetime allergic rhinitis (p = 0.002), and current allergic rhinitis (p = 0.004) were significantly higher in patients than TEC on bivariate analysis. On multivariate analysis, rates of current atopy (Cohen's d = 0.26, p = 0.04) and current allergic rhinitis (Cohen's d = 0.34, p = 0.012) were significantly higher in patients with PTSD than in TEC. Current eczema (p = 0.24), current asthma (p = 0.26), and allergies (p = 0.59) were not associated with PTSD.
CONCLUSIONS
Rates of atopy are higher in participants with PTSD than TEC, and this effect is related to higher rates of allergic rhinitis. Further studies are needed to elucidate the pathways linking allergic rhinitis and PTSD.
Topics: Adult; Asthma; Case-Control Studies; Humans; Middle Aged; Rhinitis, Allergic; South Africa; Stress Disorders, Post-Traumatic
PubMed: 35580455
DOI: 10.1016/j.jpsychores.2022.110938 -
Clinical & Experimental Ophthalmology 2023To investigate the association between keratoconus (KC) and allergic eye diseases, eye rubbing, and atopy. (Meta-Analysis)
Meta-Analysis
BACKGROUND
To investigate the association between keratoconus (KC) and allergic eye diseases, eye rubbing, and atopy.
METHODS
PubMed, Web of Science, Scopus, and Cochrane databases were searched for studies investigating eye allergy, atopy, and eye rubbing as risk factors for KC up to April 2021. Two authors independently screened all titles and abstracts against the predefined inclusion and exclusion criteria. The study analysed the prevalence of KC and its risk factors, including eye rubbing, family history of KC, atopy, and allergic eye diseases. The National Institutes of Health Study Quality Assessment Tool was used. Pooled data are presented as odds ratios (OR) and 95% confidence intervals (CI). The analysis was conducted using RevMan version 5.4 software.
RESULTS
The initial search yielded 573 articles. After screening, 21 studies were identified for qualitative analysis and 15 for quantitative synthesis. A significant association was found between KC and eye rubbing (OR = 5.22, 95% CI [2.80, 9.75], p < 0.00001), family history of KC (OR = 6.67, 95% CI [4.77, 9.33], p < 0.00001), and allergies (OR = 2.21, 95% CI [1.57, 3.13], p < 0.00001). However, no significant association was found between KC and allergic eye disease (OR = 1.82, 95% CI [0.37, 8.97], p = 0.46), atopy (OR = 1.54, 95% CI [0.58, 4.09], p = 0.39), allergic rhinitis (OR = 0.85, 95% CI [0.54, 1.33], p = 0.47), smoking (OR = 0.96, 95% CI [0.76, 1.21], p = 0.73), and asthma (OR = 1.58, 95% CI [0.99, 2.53], p = 0.05).
CONCLUSION
Significant associations were observed between KC and eye rubbing, family history, and allergy, but not with allergic eye disease, atopy, asthma, and allergic rhinitis.
Topics: Humans; Keratoconus; Risk Factors; Asthma; Rhinitis, Allergic; Odds Ratio
PubMed: 36882200
DOI: 10.1111/ceo.14215 -
Frontiers in Allergy 2023Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can... (Review)
Review
Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs) with profound clinical implications ranging from infections, malignancy, and in some cases severe allergic inflammation. This review examines TF defects underlying IEIs with severe atopy as a defining clinical phenotype, including STAT3 loss-of-function, STAT6 gain-of-function, FOXP3 deficiency, and T-bet deficiency. These disorders offer valuable insights into the pathophysiology of allergic inflammation, expanding our understanding of both rare monogenic and common polygenic allergic diseases. Advances in genetic testing will likely uncover new IEIs associated with atopy, enriching our understanding of molecular pathways involved in allergic inflammation. Identification of monogenic disorders profoundly influences patient prognosis, treatment planning, and genetic counseling. Hence, the consideration of IEIs is essential for patients with severe, early-onset atopy. This review highlights the need for continued investigation into TF defects to enhance our understanding and management of allergic diseases.
PubMed: 37727514
DOI: 10.3389/falgy.2023.1237852 -
The Journal of Asthma : Official... Jul 2022Characterization of wheezing phenotypes in children might help to identify the underlying mechanisms through which asthma occurs. In our study, we aimed to describe...
OBJECTIVE
Characterization of wheezing phenotypes in children might help to identify the underlying mechanisms through which asthma occurs. In our study, we aimed to describe wheezing phenotypes in Turkish children and to identify risk factors according to phenotypes.
METHODS
651 wheezy children were evaluated and 5 wheezing phenotypes were described according to age of onset, atopy and persistence at 6 years of age and risk factors were identified.
RESULTS
Distribution of wheezing phenotypes was transient early wheeze (TEW)(34.9%) non-atopic wheeze (NAW) (18%), atopic wheeze (AW) (22.3%), intermediate onset wheeze (IOW) (11.1%), late onset wheeze (LOW) (11.7%). LOW, AW, and IOW were associated with, father's, sibling's and family's atopy (p:0.001) whereas LOW and AW were associated with mother's asthma and atopy as well as family's asthma ( < 0.05). Atopic dermatitis and allergic rhinitis were common of patients with LOW, AW, and IOW ( < 0.05). İnfection was the major trigger for TEW and NAW whereas multiple triggers were common of AW, LOW, and IOW. Allergens were mostly associated with AW, IOW and LOW. Aeroallergen-specific IgE positivity was mostly with AW, IOW, and LOW phenotype. Skin prick tests showed multiple allergen sensitivity in IOW, LOW groups and mostly single allergen in AW phenotype. Modified asthma predictive index (mAPI) positivity was high in all groups except TEW and NAW.
CONCLUSIONS
With this study we classified five wheeze phenotypes and found that atopy and family's atopy history, maternal asthma were strongly associated with AW, LOW, and IOW phenotypes which were usually effected by allergens or multiple triggers.
Topics: Allergens; Asthma; Child; Humans; Hypersensitivity, Immediate; Infant; Phenotype; Respiratory Sounds; Risk Factors
PubMed: 33906564
DOI: 10.1080/02770903.2021.1922916 -
Journal of Clinical Medicine Nov 2022Inhaled bronchodilators are frequently used among patients with primary ciliary dyskinesia (PCD), although neither the effectiveness nor the prevalence of their use is...
BACKGROUND
Inhaled bronchodilators are frequently used among patients with primary ciliary dyskinesia (PCD), although neither the effectiveness nor the prevalence of their use is known, due to the paucity of relevant studies.
METHODS
This is a retrospective analysis of pre- and post-bronchodilator spirometry results, of patients with PCD from two centers. Correlations were examined of bronchodilator response, with asthma and atopy markers.
RESULTS
Of 115 patients, 46 (40%) completed spirometry pre- and post-bronchodilation. Of these, 26 (56.5%) demonstrated reversible airway obstruction (increase in %FEV predicted ≥ 10%). Obstruction reversibility was not found to be associated with a family history of asthma, blood eosinophil level, elevated IgE, or atopy symptoms. Of the 46 patients who completed bronchodilator spirometry, 29 (63%) were regularly using bronchodilators and inhaled corticosteroids.
CONCLUSIONS
More than half of patients with PCD presented with reversible airway obstruction, without any correlation to markers of personal or familial atopy. Inhaled bronchodilators and corticosteroid therapies are commonly used for treating PCD. Evaluating bronchodilator response should be considered, and its effectiveness should be further studied.
PubMed: 36431268
DOI: 10.3390/jcm11226791 -
Frontiers in Immunology 2022Atopic disorders, including atopic dermatitis, food and environmental allergies, and asthma, are increasingly prevalent diseases. Atopic disorders are often associated... (Review)
Review
Atopic disorders, including atopic dermatitis, food and environmental allergies, and asthma, are increasingly prevalent diseases. Atopic disorders are often associated with eosinophilia, driven by T helper type 2 (Th2) immune responses, and triggered by disrupted barrier function leading to abnormal immune priming in a susceptible host. Immune deficiencies, in contrast, occur with a significantly lower incidence, but are associated with greater morbidity and mortality. A subset of atopic disorders with eosinophilia and elevated IgE are associated with monogenic inborn errors of immunity (IEI). In this review, we discuss current knowledge of IEI that are associated with atopy and the lessons these immunologic disorders provide regarding the fundamental mechanisms that regulate type 2 immunity in humans. We also discuss further mechanistic insights provided by animal models.
Topics: Animals; Dermatitis, Atopic; Disease Susceptibility; Eosinophilia; Immune System; Immunologic Deficiency Syndromes
PubMed: 35572516
DOI: 10.3389/fimmu.2022.860821 -
Expert Review of Gastroenterology &... May 2019Primary atopic disorders can be classified as heritable genetic disorders presenting with deregulated pathogenic allergic effector responses irrespective of... (Review)
Review
Primary atopic disorders can be classified as heritable genetic disorders presenting with deregulated pathogenic allergic effector responses irrespective of sensitization. In the last decade, there are parallel rises in the burden of atopic and gastrointestinal (GI) diseases. Areas covered: There is increasing recognition of an association between atopy and GI disease through immune dysregulation, the microbiome and shared genetic pathways. Since the first article on atopy and the GI tract in 2014 in this journal, many more studies have shed light on the shared pathways in these diseases, particularly in the field of eosinophilic GI disease, functional GI disorders, and inflammatory bowel disease. Expert opinion: Understanding the links with common mechanisms in atopy and GI diseases that may lead to better targeting of treatment through manipulation of immune mechanisms, the microbiome, genetics, food allergens and specific GI diseases such as inflammatory bowel disease, functional GI disorders.
Topics: Allergens; Animals; Gastrointestinal Diseases; Gastrointestinal Microbiome; Gastrointestinal Tract; Genetic Predisposition to Disease; Humans; Hypersensitivity; Prognosis; Risk Factors
PubMed: 30900475
DOI: 10.1080/17474124.2019.1596025