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Case Reports
. 2022 Jan;64(1):e15087.
doi: 10.1111/ped.15087.

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome

Duygu Övünç Hacıhamdioğlu  1 , Zeynep Altan Ferhatoğlu  2 , Mutlu Karkucak  3 , Neslihan Müge Fişek İzci  2 , Tahsin Yakut  3
Affiliations
Case Reports

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome

Duygu Övünç Hacıhamdioğlu et al. Pediatr Int. 2022 Jan.
No abstract available

Keywords: SPINK5; Netherton syndrome; filaggrin.

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References

    1. Hannula-Jouppi K, Laasanen SL, Heikkil€a H et al. IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. J. Allergy Clin. Immunol. 2014; 134: 985-8.
    1. Stuvel K, Heeringa JJ, Dalm VASH et al. Comel-Netherton syndrome: a local skin barrier defect in the absence of an underlying systemic immunodeficiency. Allergy 2020; 75: 1710-20.
    1. Komatsu N, Saijoh K, Jayakumar A et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J. Invest. Dermatol. 2008; 128: 1148-59.
    1. Drislane C, Irvine AD. The role of filaggrin in atopic dermatitis and allergic disease. Ann. Allergy Asthma Immunol. 2020; 124: 36-43.
    1. Barbati F, Giovannini M, Oranges T et al. Netherton syndrome in children: management and future perspectives. Front. Pediatr. 2021; 10(9): 645259.

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