HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with IEI due to high exposures to many microbes. In t...

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Main Authors: Assiya El Kettani, Fatima Ailal, Jalila El Bakkouri, Khalid Zerouali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Ahmed Aziz Bousfiha
Formato: Artigo
Idioma:English
Publicado: MDPI AG 2022-07-01
Series:Pathogens
Subjects:
Acceso en liña:https://www.mdpi.com/2076-0817/11/8/857
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author Assiya El Kettani
Fatima Ailal
Jalila El Bakkouri
Khalid Zerouali
Vivien Béziat
Emmanuelle Jouanguy
Jean-Laurent Casanova
Ahmed Aziz Bousfiha
author_facet Assiya El Kettani
Fatima Ailal
Jalila El Bakkouri
Khalid Zerouali
Vivien Béziat
Emmanuelle Jouanguy
Jean-Laurent Casanova
Ahmed Aziz Bousfiha
author_sort Assiya El Kettani
collection DOAJ
description Patients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with IEI due to high exposures to many microbes. In the general population, human papillomaviruses (HPVs) cause asymptomatic or self-healing infections, but, in patients with IEI, unusual clinical expression of HPV infection is observed ranging from epidermodysplasia verruciformis (EV) (a rare disease due to β-HPVs) to profuse, persistent, and recalcitrant warts (due to α-, γ-, and μ-HPVs) or even tree man syndrome (due to HPV2). Mutations in EVER1, EVER2, and CIB1 are associated with EV phenotype; GATA2, CXCR4, and DOCK8 mutations are typically associated with extensive HPV infections, but there are several other IEI that are less frequently associated with severe HPV lesions. In this review, we describe clinical, immunological, and genetic patterns of IEI related to severe HPV cutaneous infections and propose an algorithm for diagnosis of IEI with severe warts associated, or not, with lymphopenia.
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spelling doaj.art-5e1cb2a6fb6b45138baf50f43594e0872023-11-30T22:09:08ZengMDPI AGPathogens2076-08172022-07-0111885710.3390/pathogens11080857HPV-Related Skin Phenotypes in Patients with Inborn Errors of ImmunityAssiya El Kettani0Fatima Ailal1Jalila El Bakkouri2Khalid Zerouali3Vivien Béziat4Emmanuelle Jouanguy5Jean-Laurent Casanova6Ahmed Aziz Bousfiha7Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, FranceLaboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, MoroccoPatients with inborn errors of immunity (IEI) are prone to develop infections, either due to a broad spectrum of pathogens or to only one microbe. Since skin is a major barrier tissue, cutaneous infections are among the most prevalent in patients with IEI due to high exposures to many microbes. In the general population, human papillomaviruses (HPVs) cause asymptomatic or self-healing infections, but, in patients with IEI, unusual clinical expression of HPV infection is observed ranging from epidermodysplasia verruciformis (EV) (a rare disease due to β-HPVs) to profuse, persistent, and recalcitrant warts (due to α-, γ-, and μ-HPVs) or even tree man syndrome (due to HPV2). Mutations in EVER1, EVER2, and CIB1 are associated with EV phenotype; GATA2, CXCR4, and DOCK8 mutations are typically associated with extensive HPV infections, but there are several other IEI that are less frequently associated with severe HPV lesions. In this review, we describe clinical, immunological, and genetic patterns of IEI related to severe HPV cutaneous infections and propose an algorithm for diagnosis of IEI with severe warts associated, or not, with lymphopenia.https://www.mdpi.com/2076-0817/11/8/857HPVskininborn errors of immunity
spellingShingle Assiya El Kettani
Fatima Ailal
Jalila El Bakkouri
Khalid Zerouali
Vivien Béziat
Emmanuelle Jouanguy
Jean-Laurent Casanova
Ahmed Aziz Bousfiha
HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
Pathogens
HPV
skin
inborn errors of immunity
title HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
title_full HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
title_fullStr HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
title_full_unstemmed HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
title_short HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity
title_sort hpv related skin phenotypes in patients with inborn errors of immunity
topic HPV
skin
inborn errors of immunity
url https://www.mdpi.com/2076-0817/11/8/857
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