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Increased Th22 cell numbers in a general pediatric population with filaggrin haploinsufficiency: The Generation R Study
Author(s) -
Looman Kirsten I. M.,
Mierlo Minke M. F.,
Zelm Menno C.,
Hu Chen,
Duijts Liesbeth,
Jongste Johan C.,
Nijsten Tamar,
Pardo Luba M.,
Kieftede Jong Jessica C.,
Moll Henriëtte A.,
Pasmans Suzanne G. M. A.
Publication year - 2021
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/pai.13502
Subject(s) - filaggrin , medicine , population , immunology , atopic dermatitis , haploinsufficiency , mutation , genetics , gene , biology , phenotype , environmental health
Background Mutations in the filaggrin gene ( FLG ) affect epidermal barrier function and increase the risk of atopic dermatitis (AD). We hypothesized that FLG mutations affect immune cell composition in a general pediatric population. Therefore, we investigated whether school‐aged children with and without FLG mutations have differences in T‐ and B‐cell subsets. Methods This study was embedded in a population‐based prospective cohort study, the Generation R Study, and included 523 children of European genetic ancestry aged 10 years. The most common FLG mutations in the European population (R501X, S1085CfsX36, R2447X, and S3247X) were genotyped. Additionally, 11‐color flow cytometry was performed on peripheral blood samples to determine helper T (Th), regulatory T (Treg), and CD27 + and CD27 ‐ memory B cells. Subset analysis was performed in 358 non‐AD and 102 AD cases, assessed by parental questionnaires. Results FLG mutations were observed in 8.4% of the total population and in 15.7% of the AD cases. Children with any FLG mutation had higher Th22 cell numbers compared to FLG wild‐type children in the general and non‐AD population. Children with and without FLG mutations had no difference in Th1, Th2, Th17, Treg, or memory B‐cell numbers. Furthermore, in children with AD, FLG mutation carriership was not associated with differences in T‐ and B‐cell subsets. Conclusions School‐aged children of a general population with FLG mutations have higher Th22 cell numbers, which reflects the immunological response to the skin barrier dysfunction. FLG mutations did not otherwise affect the composition of the adaptive immunity in this general pediatric population.