Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations
Copyright © 2019 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 208(2019) vom: 20. Nov., Seite 108228 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2019
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Letter Research Support, Non-U.S. Gov't CARMIL2 Epidermolysis bullosa Immunodeficiency Plectin RLTPR Whole exome sequencing CARMIL1 protein, human plus... |
| Résumé: | Copyright © 2019 Elsevier Inc. All rights reserved. This study reports a patient with severe skin disease in the context of profound immunodeficiency explained by two concomitant genetic diseases caused by two novel homozygous loss-of-function mutations in PLEC1 and CARMIL2. The work provides additional information on the clinical and immunological manifestations of CARMIL2 deficiency and highlights the particular diagnostic and therapeutic challenge represented by the concomitant presence of two rare monogenic disorders |
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| Description: | Date Completed 19.05.2020 Date Revised 12.02.2021 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2019.06.004 |