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Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients

Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hosp...

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Autores principales: El Kettani, Assiya, Ailal, Fatima, Marnissi, Farida, Hali, Fouzia, El Bakkouri, Jalila, Benhsaien, Ibtihal, Le Voyer, Tom, Guèye, Mame Sokhna, Chevalier, Rémi, Chiheb, Soumiya, Zerouali, Khalid, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Bousfiha, Ahmed Aziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220620/
https://www.ncbi.nlm.nih.gov/pubmed/37317175
http://dx.doi.org/10.3390/microorganisms11051202
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author El Kettani, Assiya
Ailal, Fatima
Marnissi, Farida
Hali, Fouzia
El Bakkouri, Jalila
Benhsaien, Ibtihal
Le Voyer, Tom
Guèye, Mame Sokhna
Chevalier, Rémi
Chiheb, Soumiya
Zerouali, Khalid
Jouanguy, Emmanuelle
Casanova, Jean-Laurent
Bousfiha, Ahmed Aziz
author_facet El Kettani, Assiya
Ailal, Fatima
Marnissi, Farida
Hali, Fouzia
El Bakkouri, Jalila
Benhsaien, Ibtihal
Le Voyer, Tom
Guèye, Mame Sokhna
Chevalier, Rémi
Chiheb, Soumiya
Zerouali, Khalid
Jouanguy, Emmanuelle
Casanova, Jean-Laurent
Bousfiha, Ahmed Aziz
author_sort El Kettani, Assiya
collection PubMed
description Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed with a probable IEI, eight of them (1.3%), from six independent families, had isolated or syndromic unusual viral skin infections, which were either profuse, chronic or recurrent infections, and resistant to any treatment. The median age of disease onset was nine years old and all patients were born from a first-degree consanguineous marriage. By combining clinical, immunological and genetic investigations, we identified GATA2 deficiency in one patient with recalcitrant profuse verrucous lesions and monocytopenia (1/8) and STK4 deficiency in two families with HPV lesions, either flat or common warts, and lymphopenia (2/8), as previously reported. We also identified COPA deficiency in twin sisters with chronic profuse Molluscum contagiosum lesions, pulmonary diseases and microcytic hypochromic anemia (2/8). Finally, we also found one patient with chronic profuse MC lesions and hyper IgE syndrome, (1/8) and two patients with either recalcitrant profuse verrucous lesions or recurrent post-herpetic erythema multiforme and a combined immunodeficiency (2/8) with no genetic defect identified yet. Raising clinicians awareness that infectious skin diseases might be the consequence of an inborn error of immunity would allow for optimized diagnosis, prevention and treatment of patients and their families.
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spelling pubmed-102206202023-05-28 Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients El Kettani, Assiya Ailal, Fatima Marnissi, Farida Hali, Fouzia El Bakkouri, Jalila Benhsaien, Ibtihal Le Voyer, Tom Guèye, Mame Sokhna Chevalier, Rémi Chiheb, Soumiya Zerouali, Khalid Jouanguy, Emmanuelle Casanova, Jean-Laurent Bousfiha, Ahmed Aziz Microorganisms Brief Report Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at the Department of Pediatric Infectious Diseases and Clinical Immunity of Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed with a probable IEI, eight of them (1.3%), from six independent families, had isolated or syndromic unusual viral skin infections, which were either profuse, chronic or recurrent infections, and resistant to any treatment. The median age of disease onset was nine years old and all patients were born from a first-degree consanguineous marriage. By combining clinical, immunological and genetic investigations, we identified GATA2 deficiency in one patient with recalcitrant profuse verrucous lesions and monocytopenia (1/8) and STK4 deficiency in two families with HPV lesions, either flat or common warts, and lymphopenia (2/8), as previously reported. We also identified COPA deficiency in twin sisters with chronic profuse Molluscum contagiosum lesions, pulmonary diseases and microcytic hypochromic anemia (2/8). Finally, we also found one patient with chronic profuse MC lesions and hyper IgE syndrome, (1/8) and two patients with either recalcitrant profuse verrucous lesions or recurrent post-herpetic erythema multiforme and a combined immunodeficiency (2/8) with no genetic defect identified yet. Raising clinicians awareness that infectious skin diseases might be the consequence of an inborn error of immunity would allow for optimized diagnosis, prevention and treatment of patients and their families. MDPI 2023-05-04 /pmc/articles/PMC10220620/ /pubmed/37317175 http://dx.doi.org/10.3390/microorganisms11051202 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
El Kettani, Assiya
Ailal, Fatima
Marnissi, Farida
Hali, Fouzia
El Bakkouri, Jalila
Benhsaien, Ibtihal
Le Voyer, Tom
Guèye, Mame Sokhna
Chevalier, Rémi
Chiheb, Soumiya
Zerouali, Khalid
Jouanguy, Emmanuelle
Casanova, Jean-Laurent
Bousfiha, Ahmed Aziz
Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title_full Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title_fullStr Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title_full_unstemmed Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title_short Atypical Cutaneous Viral Infections Reveal an Inborn Error of Immunity in 8 Patients
title_sort atypical cutaneous viral infections reveal an inborn error of immunity in 8 patients
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10220620/
https://www.ncbi.nlm.nih.gov/pubmed/37317175
http://dx.doi.org/10.3390/microorganisms11051202
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