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Diagnostic Value of the Skin Lesions in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Authors

  • Ana Martín-Santiago M.D.,

    1. Department of Dermatology, Son Espases University Hospital, Palma de Mallorca, Spain
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  • Juan A. Hervás M.D., Ph.D.,

    Corresponding author
    1. Department of Pediatrics, Son Espases University Hospital, Palma de Mallorca, Spain
    2. University Institute of Health Sciences-IUNICS, University of the Balearic Islands, Palma de Mallorca, Spain
    • Address correspondence to Juan A. Hervás, M.D., Ph.D., University Institute of Health Sciences-IUNICS, Ctra de Valldemosa 79, 07010 Palma de Mallorca, Spain, or e-mail: jhervashp@yahoo.es.

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  • Daniel Hervás M.D.,

    1. University Institute of Health Sciences-IUNICS, University of the Balearic Islands, Palma de Mallorca, Spain
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  • Antonio Rosell M.D.,

    1. Department of Pediatrics, Son Espases University Hospital, Palma de Mallorca, Spain
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  • María Caimari M.D.,

    1. Department of Pediatrics, Son Espases University Hospital, Palma de Mallorca, Spain
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  • Juan C. de Carlos M.D.,

    1. Department of Pediatrics, Son Espases University Hospital, Palma de Mallorca, Spain
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  • Nuria Matamoros M.D., Ph.D.

    1. University Institute of Health Sciences-IUNICS, University of the Balearic Islands, Palma de Mallorca, Spain
    2. Department of Immunology, Son Espases University Hospital, Palma de Mallorca, Spain
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Abstract

We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).

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