Possible immunological consequences of filaggrin gene mutation. A case study of a 3-year-old allergic girl

Ogrodowczyk, Anna Maria; Wróblewska, Barbara; Markiewicz, Lidia Hanna; Zakrzewska, Magdalena

doi:10.5114/ceji.2013.37747

Cited by 2 publications

(2 citation statements)

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“…Finally, the present study is limited by no intestinal microbiota biodiversity information of the studied population. However, a case study report about observed disproportion of skin microbiota in female representative of studied population has been previously published [ 59 ]. Nonetheless, the study provides a strong background for future research devoted to microbiota.…”

Section: Discussionmentioning

confidence: 99%

Increased prevalence of eating disorders as a biopsychosocial implication of food allergy

et al. 2018

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IntroductionThe study evaluates the impact of biopsychosocial factors involved in food allergy (FA) on the prevalence of eating disorders (ED). For the 5-year follow-up studies, 75 participants (aged 1–14 years) with early-onset FA and 81 healthy peers were included.MethodParticipants were diagnosed with FA using antibody/cytokine content immunoassay tests. Medical history, including BMI z-scores, was completed using data obtained in response to a validated allergic questionnaire that incorporated the SCOFF and EAT-8 screening questionnaires for ED. FA was confirmed if total IgE was elevated, specific sIgE to food allergens exceeded 0.7 kUA/L and if manifestations were observed. Screening for ED was considered positive if two or more SCOFF and EAT-8 items were confirmed.ResultsIn the FA+ group, 50% of female participants and 6.7% of their healthy female peers reported ED. An ED+ result was more frequent in FA+ individuals than in their healthy peers (p = 0.046) although the association is weak. In the FA+/ED+ group, 25.3% of the participants were underweight, and 14.7% were overweight compared to their peers where this reached respectively 4.2% and 2.8% (p<0.005). 74% of the FA+/ED+ individuals reported elimination diet implementation and only 15% declared it was medically consulted. The prevalence of ED in the FA+ male group was consistently correlated with lack of confidence in FA issues (r = 0.5424) and in the FA+ female group with applied medical procedures (r = 0.7069; p<0.005).ConclusionThese findings suggest that participants with FA especially struggling with lack of confidence in FA issues and those following an uncontrolled, restrictive elimination diet are more prone to food aversion and ED than their healthy peers. Applied procedures are necessary, and their neglect is associated with FA deterioration; however, the possibility of ED and biopsychosocial implications development should not be underestimated.

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Section: Discussionmentioning

confidence: 99%

Increased prevalence of eating disorders as a biopsychosocial implication of food allergy

et al. 2018

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“…The measurement of the loss of the water from the epidermis in correlation with the scale of severity of itching could be helpful in demonstrating the phenotypic nature of the filaggrin gene defect [19]. It seems important to extend the study by adding the data on the course of the disorder in the first years of the patient's disease with mutations in the filaggrin gene defect life [20].…”

Section: Discussionmentioning

confidence: 99%

The frequency of polymorphic variants of filaggrin gene and clinical atopic dermatitis

Filipowska-Grońska

Weryńska-Kalemba

Bożek

et al. 2016

pdia

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A b s t r a c tIntroduction: As far as pathogenesis of the atopic dermatitis (AD) is concerned, the roles of an impaired epidermal barrier and cornified cell envelope are widely emphasized. Aim: The assessment of mutations of the filaggrin gene and their connection with the clinical picture of AD as well as selected allergological and environmental indicators. Material and methods: 105 patients with diagnosed AD on the basis of diagnostic criteria were included. For every patient of the examined group, quantitative determination of the total concentration of IgE and the concentration of IgE antibodies to selected allergens were examined. For all patients, studies were performed by means of analysis of two genomic gene variants of profilaggrin (FLG) -R501X and 2282del4. Results: Loss-of-function mutations in the filaggrin gene were shown in 12 (11.4%) patients in the examined group. All patients in the study group who developed one of the tested loss-of-function mutations in the filaggrin gene demonstrated an extrinsic, allergic form of atopic dermatitis. A significant association (p = 0.0002) between the presence of one of the tested loss-of-function mutations in the filaggrin gene and elevated levels of total concentration of immunoglobulin E was shown. Conclusions: Patients with AD of null mutations in the filaggrin gene demonstrate a relationship with the total and specific concentration of immunoglobulin E, specifically higher concentrations of IgE against aeroallergens and alimentary allergens as well as elevated levels of total immunoglobulin E.

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Possible immunological consequences of filaggrin gene mutation. A case study of a 3-year-old allergic girl

Abstract: Filaggrin is one of the most important structural proteins in the stratum

Cited by 2 publications

References 19 publications

Increased prevalence of eating disorders as a biopsychosocial implication of food allergy

Increased prevalence of eating disorders as a biopsychosocial implication of food allergy

The frequency of polymorphic variants of filaggrin gene and clinical atopic dermatitis

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