397 Characterization of ABCA12 gene variant by electron microscopy in an infant with an ichthyosiform dermatitis and MALT1 deficiency

نویسندگان

چکیده

The ABCA12 gene encodes an ATP-binding cassette transporter vital to skin barrier function. In keratinocytes, transports ceramides into the lumen of lamellar bodies as part widely conserved water system. Alterations in are associated with autosomal recessive congenital ichthyoses: harlequin ichthyosis, non-bullous ichthyosiform erythroderma, and ichthyosis. We report a 4-month-old female who presented diffuse fine scale, recurrent infections. Hematoxylin & eosin biopsy demonstrated parakeratosis, spongiosis, T-cell lymphocytic infiltrate at dermoepidermal junction. Congenital ichthyosis severe combined immunodeficiency genetic panels revealed patient be heterozygous for p.Ala833Val on ABCA12. This variant is present population databases but has not been reported literature individuals related ichthyoses; its phenotype unknown. was also found have known pathogenic MALT1, which well “Omenn or Netherton syndrome-like” exfoliative dermatitis. sought further characterize her mutation electron microscopy. Electron microscopy foci inflammatory cells, dermal edema, intact within granular spinous layers epidermis. concluded that this pathogenic, findings were best explained by MALT1 variant. case provides example how in-depth molecular understanding protein function can inform clinical management disease, especially cases where pathogenicity question.

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2022

ISSN: ['1523-1747', '0022-202X']

DOI: https://doi.org/10.1016/j.jid.2022.05.406