Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency
Epidermodysplasia verruciformis (EV) is a rare genodermatosis caused by β-human papillomaviruses (HPV) in immunodeficient patients. EV is characterized by flat warts and pityriasis-like lesions and might be isolated or syndromic, associated with some other infectious manifestations. We report here three patients from two independent families, with syndromic EV for both of them. By whole exome sequencing, we found that the patients carry new homozygous variants in STK4, both leading to a premature stop codon. STK4 deficiency causes a combined immunodeficiency characterized by a broad infectious susceptibility to bacteria, viruses, and fungi. Auto-immune manifestations were also reported. Deep immunophenotyping revealed multiple cytopenia in the three affected patients, in particular deep CD4<sup>+</sup> T cells deficiency. We report here the fourth and the fifth cases of the syndromic EV due to STK4 deficiency.
Authors
- Hind Ouair (ORCID: https://orcid.org/0000-0002-9919-8648)
- Rémi Chevalier (ORCID: https://orcid.org/0000-0002-8611-1937)
- Lazaro Lorenzo (ORCID: https://orcid.org/0000-0001-6648-8684)
- Jean‐Laurent Casanova (ORCID: https://orcid.org/0000-0002-7782-4169)
- F. Marnissi
- Ahmed Aziz Bousfiha (ORCID: https://orcid.org/0000-0002-5011-9873)
- Emmanuelle Jouanguy (ORCID: https://orcid.org/0000-0002-7358-9157)
- Vivien Béziat (ORCID: https://orcid.org/0000-0002-4020-824X)
- Jalila El Bakkouri (ORCID: https://orcid.org/0000-0003-2303-3369)
- Assiya El Kettani (ORCID: https://orcid.org/0000-0003-2433-9116)
- Halima Kholaiq (ORCID: https://orcid.org/0009-0004-4373-7579)
Institutions
- Howard Hughes Medical Institute (US)
- Inserm (FR)
- Université Paris Cité (FR)
- Centre Hospitalier Universitaire Ibn Rochd (MA)
- Institut des Maladies Génétiques Imagine (FR)
- Rockefeller University (US)
- University of Hassan II Casablanca (MA)
Publication Details
- Journal
- Viruses
- Published
- 2024-09-05
- DOI
- https://doi.org/10.3390/v16091415
- Citations
- 1
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- St. Giles Foundation
- Georgia Clinical and Translational Science Alliance
- Institut des maladies génétiques Imagine
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Université Hassan II de Casablanca
- National Institutes of Health
- National Center for Advancing Translational Sciences