Filaggrin and childhood eczema

Dennin, Margaret H.; Lio, Peter A.

doi:10.1136/archdischild-2017-313010

Cited by 10 publications

(5 citation statements)

References 29 publications

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“…In European regions, the most common variants are: R501X, 2282del4, S3247X, 3702delG, R2447X, and in Asian countries -3321delA (East Asia), and Q2417X (Taiwan and China). Interestingly, in Russia the polymorphism R501X, 2282del4, S3247X, R2447X occurs in patients with AD with different frequency, but the carriers of the mutation 3702delG are not detected at all [14,15]. These data clearly demonstrate the difference in FLG population genetics between Europe and Asia [16].…”

Section: Scientific Collection «Interconf» | № 58 189mentioning

confidence: 81%

The Role of Genetic Polymorphism of the Filaggrin Protein With Atopic March Progression in Children

Стоєва

Reshetilo²,

Весилык³

et al. 2021

interconf

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The aim of the study. To determine the role of genetic polymorphism in the filaggrin gene R501XAA and 2282de4AA at atopic march progression in children. Materials and methods. 111 children aged 3 to 12 years with atopic dermatitis were selected and examined. As a result of genetic testing, it was found that 51 children with atopic dermatitis had polymorphism in the filaggrin gene. These patients were included in the main group. Another 60 children without polymorphism were in the control group. The filaggrin gene polymorphism was determined by examining the buccal epithelium by Dellaporta method. Sensitization to allergens was established on the basis of the specific IgE level. The impact of the disease on the quality of life of children was performed using the CDLQI questionnaire (Children's Dermatology Life Quality Index). Results. In the course of molecular genetics research, R501X mutation was detected in 40 ((78.4 ± 5.76)%) children, 2282del4 polymorphism – in 4 ((7.8 ± 3.76)%) patients, and their combined variant R501X + 2282del4 – in 7 (13%), (7 ± 4.81)% patients. When determining the effect of filaggrin polymorphism on the clinical course of atopic dermatitis, the presence of the associative relationship was established with the following indicators: the early onset of the disease – χ2 = 33.2, mostly severe course – χ2 = 16.2, severe skin dryness – χ2 = 22.6, predominant sensitization to fungi – χ2 = 10.6 and house dust mites – χ2 = 12.2, violation of the skin microbiome – χ2 = 7.8. Conclusions. Early manifestation of atopic dermatitis in children is associated with the filaggrin protein gene polymorphism ((82.4 ± 5.33)%), which determines the risk of progression of the atopic march and the development of bronchial asthma in (38.0 ± 6.8)% of children.

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Section: Scientific Collection «Interconf» | № 58 189mentioning

confidence: 81%

The Role of Genetic Polymorphism of the Filaggrin Protein With Atopic March Progression in Children

Стоєва

Reshetilo²,

Весилык³

et al. 2021

interconf

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show abstract

“…The genetic basis for AD is a defect in skin barrier function of which the best studied is polymorphisms in the gene coding for filaggrin. Defects in this protein lead to increased fluid loss from the epidermis and increased susceptibility to inflammation induced by irritants and micro-organisms, thereby leading to AD ( 27 ). The dysfunctional skin barrier is more permeable such that food and inhalant allergens can penetrate through to the dermis where antigen presenting cells can pick up allergen and migrate to regional lymphoid accumulations for sensitization to occur ( 28 ).…”

Section: The Ontogeny Of Cma and The Allergic Marchmentioning

confidence: 99%

Strategies and Future Opportunities for the Prevention, Diagnosis, and Management of Cow Milk Allergy

Zepeda-Ortega¹,

Goh

Xepapadaki

et al. 2021

Front. Immunol.

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The prevalence of food allergy has increased over the last 20-30 years, including cow milk allergy (CMA) which is one of the most common causes of infant food allergy. International allergy experts met in 2019 to discuss broad topics in allergy prevention and management of CMA including current challenges and future opportunities. The highlights of the meeting combined with recently published developments are presented here. Primary prevention of CMA should start from pre-pregnancy with a focus on a healthy lifestyle and food diversity to ensure adequate transfer of inhibitory IgG- allergen immune complexes across the placenta especially in mothers with a history of allergic diseases and planned c-section delivery. For non-breastfed infants, there is controversy about the preventive role of partially hydrolyzed formulae (pHF) despite some evidence of health economic benefits among those with a family history of allergy. Clinical management of CMA consists of secondary prevention with a focus on the development of early oral tolerance. The use of extensive Hydrolysate Formulae (eHF) is the nutrition of choice for the majority of non-breastfed infants with CMA; potentially with pre-, probiotics and LCPUFA to support early oral tolerance induction. Future opportunities are, among others, pre- and probiotics supplementation for mothers and high-risk infants for the primary prevention of CMA. A controlled prospective study implementing a step-down milk formulae ladder with various degrees of hydrolysate is proposed for food challenges and early development of oral tolerance. This provides a more precise gradation of milk protein exposure than those currently recommended.

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“…This presents a conundrum of whether decreased filaggrin is a consequence of mutations or the inflammatory environment. 30 Adding to the biomarker potential of the protein, filaggrin is an important hydrator of skin, a major component of NMF. In patients with AD, NMF is decreased.…”

Section: Biomarkers In Ad Epidermal Barrier Biomarkers Filaggrinmentioning

confidence: 99%

“…Interestingly, even patients with normal FLG genes may have decreased filaggrin production, leading to the conclusion that there is more to filaggrin regulation than just the FLG gene. This presents a conundrum of whether decreased filaggrin is a consequence of mutations or the inflammatory environment 30 . Adding to the biomarker potential of the protein, filaggrin is an important hydrator of skin, a major component of NMF.…”

Section: Biomarkers In Admentioning

confidence: 99%

Atopic Dermatitis Biomarkers and the Movement Toward Personalized Treatment

Hassan¹,

Hamideh²,

Poulos

et al. 2021

Dermatitis

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Atopic dermatitis (AD) is a heterogeneous disorder with varying phenotypes. Although AD has long been associated with barrier dysfunction, the pathogenesis of this disease is more complex, involving many molecular markers in different functional domains. Biomarkers can be helpful in different ways, including predicting prognosis, measuring treatment response, and gauging disease severity. With the advent of targeted immunomodulators, biomarkers have the potential to take on new significance in terms of selecting appropriate therapies for patients. In this review, we have summarized the key findings related to biomarkers and AD, including the specific subtype differences. Clinicians will use this information to better understand the potential of biomarkers in AD and have a guide because more specific treatments are developed that are tailored toward individual molecular profiles.

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Filaggrin and childhood eczema

Cited by 10 publications

References 29 publications

The Role of Genetic Polymorphism of the Filaggrin Protein With Atopic March Progression in Children

The Role of Genetic Polymorphism of the Filaggrin Protein With Atopic March Progression in Children

Strategies and Future Opportunities for the Prevention, Diagnosis, and Management of Cow Milk Allergy

Atopic Dermatitis Biomarkers and the Movement Toward Personalized Treatment

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