Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency
<p>(<b>A</b>). Pictures of the lesions on the face and the back of P1. (<b>B</b>). Histological study of Punch skin biopsy showed hyperkeratosis and parakeratosis, mild acanthosis, and the presence of koilocytes, keratinocytes with pale-stained cytoplasm in the upper epidermis associated with high levels of intranuclear viral replication. The cytoplasm of the affected cells stains pale blue which is pathognomonic of epidermodysplasia verruciformis lesions without any sign of malignancy (arrows).</p> "> Figure 2
<p>(<b>A</b>). Pictures of the lesions on the face and the hand of P3. (<b>B</b>). Histological study of Punch skin biopsy showed hyperkeratosis and parakeratosis, mild acanthosis, and the presence of koilocytes, keratinocytes with pale-stained cytoplasm in the upper epidermis associated with high levels of intranuclear viral replication. The cytoplasm of the affected cells stains pale blue, which is pathognomonic of epidermodysplasia verruciformis lesions without any sign of malignancy (arrows).</p> "> Figure 3
<p>Pedigrees and familial segregation determined by Sanger sequencing of <span class="html-italic">STK4</span> variants in family 1 (<b>panel A</b>) and family 2 (<b>panel B</b>).</p> "> Figure 4
<p>CyTOF analysis on peripheral blood. (<b>A</b>). Proportion of total and subsets of NK cells, of total T cells, total T cells, γδ T cells, iNKT and MAIT cells. (<b>B</b>). Proportion of total and naïve, central memory, effector memory and EMRA CD4<sup>+</sup> T cells, T-regulatory, recent thymic emigrant (RTE) T cells and of total and naïve, central memory, effector memory and EMRA CD8<sup>+</sup> T cell subsets. (<b>C</b>). Proportion of total and memory, transitional, Age-associated B cells (ABC), plasmablasts, and switched B cell subsets. Age-matched healthy donors (black), patients (red). *, <span class="html-italic">p</span> < 0.05; **, <span class="html-italic">p</span> < 0.01; ns, not significant <span class="html-italic">p</span> ≥ 0.05.</p> ">
Abstract
:1. Introduction
2. Clinical Reports
2.1. Clinical Phenotypes and Genotypes
2.1.1. Family 1
2.1.2. Family 2
2.1.3. Genotype
2.2. Immunological Phenotype
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Lymphocyte Subpopulations (N/mm3) | P1 (12 Years) | P2 (8 Years) | P3 (6 Years) | Normal Range (Age Matched) |
---|---|---|---|---|
T cells | ||||
CD3+ | 771 | 2990 | 1489 | 1200–2600 |
CD4+ | 253 | 470 | 243 | 650–1500 |
CD8+ | 450 | 2330 | 1057 | 404–826 |
B cells | ||||
CD19+ | 128 | 430 | 131 | 270–860 |
NK cells | ||||
CD16+/CD56+ | 74 | 110 | 123 | 100–480 |
Immunoglobulin Levels (g/L) | P1 (12 Years) | P2 (8 Years) | P3 (6 Years) | Normal Range (Age Matched) |
---|---|---|---|---|
IgG | 11.62 | 5.17 | 17.3 | 6.10–16.16 |
IgM | 0.49 | 0.46 | 2.09 | 0.22–2.40 |
IgA | 1.99 | 3.21 | 2.17 | 0.84–4.99 |
IgE (UI/mL) | 10 | 5.18 | 175.68 | <100 |
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El Kettani, A.; Ouair, H.; Marnissi, F.; El Bakkouri, J.; Chevalier, R.; Lorenzo, L.; Kholaiq, H.; Béziat, V.; Jouanguy, E.; Casanova, J.-L.; et al. Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency. Viruses 2024, 16, 1415. https://doi.org/10.3390/v16091415
El Kettani A, Ouair H, Marnissi F, El Bakkouri J, Chevalier R, Lorenzo L, Kholaiq H, Béziat V, Jouanguy E, Casanova J-L, et al. Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency. Viruses. 2024; 16(9):1415. https://doi.org/10.3390/v16091415
Chicago/Turabian StyleEl Kettani, Assiya, Hind Ouair, Farida Marnissi, Jalila El Bakkouri, Rémi Chevalier, Lazaro Lorenzo, Halima Kholaiq, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, and et al. 2024. "Case Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency" Viruses 16, no. 9: 1415. https://doi.org/10.3390/v16091415