Preprint Case Report Version 1 This version is not peer-reviewed

Case Report of 2 Independent Moroccan Families with Syndromic Epidermodysplasia verruciformis and STK4 Deficiency

Assiya El Kettani
* ,
Hind Ouair
,
Farida Marnissi
,
Jalila El Bakkouri
,
Rémi Chevalier
,
Lazaro Lorenzo
,
Halima Kholaiq
,
Vivien Béziat
,
Emmanuelle Jouanguy
,
Jean-Laurent Casanova
,
Ahmed Aziz Bousfiha
Version 1 : Received: 23 July 2024 / Approved: 24 July 2024 / Online: 24 July 2024 (08:22:57 CEST)

How to cite: Kettani, A. E.; Ouair, H.; Marnissi, F.; El Bakkouri, J.; Chevalier, R.; Lorenzo, L.; Kholaiq, H.; Béziat, V.; Jouanguy, E.; Casanova, J.-L.; Bousfiha, A. A. Case Report of 2 Independent Moroccan Families with Syndromic Epidermodysplasia verruciformis and STK4 Deficiency. Preprints 2024, 2024071906. https://doi.org/10.20944/preprints202407.1906.v1 Kettani, A. E.; Ouair, H.; Marnissi, F.; El Bakkouri, J.; Chevalier, R.; Lorenzo, L.; Kholaiq, H.; Béziat, V.; Jouanguy, E.; Casanova, J.-L.; Bousfiha, A. A. Case Report of 2 Independent Moroccan Families with Syndromic Epidermodysplasia verruciformis and STK4 Deficiency. Preprints 2024, 2024071906. https://doi.org/10.20944/preprints202407.1906.v1

Abstract

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 2 independent families with syndromic EV for 2 of them. By whole exome sequencing, we found that 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+ T cells deficiency. We report here the fourth and the fifth cases of syndromic EV due to STK4 deficiency.

Keywords

Epidermodysplasia verruciformis; human papillomavirus; STK4 deficiency; CD4+ T cells

Subject

Biology and Life Sciences, Immunology and Microbiology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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