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Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature
Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patien...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9144991/ https://www.ncbi.nlm.nih.gov/pubmed/35628702 http://dx.doi.org/10.3390/jof8050446 |
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author | Paccoud, Olivier Vignier, Nicolas Boui, Mohammed Migaud, Mélanie Vironneau, Pierre Kania, Romain Méchaï, Frédéric Brun, Sophie Alanio, Alexandre Tauziède-Espariat, Arnault Adle-Biassette, Homa Ouedraogo, Elise Bustamante, Jacinta Bouchaud, Olivier Casanova, Jean-Laurent Puel, Anne Lanternier, Fanny |
author_facet | Paccoud, Olivier Vignier, Nicolas Boui, Mohammed Migaud, Mélanie Vironneau, Pierre Kania, Romain Méchaï, Frédéric Brun, Sophie Alanio, Alexandre Tauziède-Espariat, Arnault Adle-Biassette, Homa Ouedraogo, Elise Bustamante, Jacinta Bouchaud, Olivier Casanova, Jean-Laurent Puel, Anne Lanternier, Fanny |
author_sort | Paccoud, Olivier |
collection | PubMed |
description | Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria. Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation. |
format | Online Article Text |
id | pubmed-9144991 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91449912022-05-29 Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature Paccoud, Olivier Vignier, Nicolas Boui, Mohammed Migaud, Mélanie Vironneau, Pierre Kania, Romain Méchaï, Frédéric Brun, Sophie Alanio, Alexandre Tauziède-Espariat, Arnault Adle-Biassette, Homa Ouedraogo, Elise Bustamante, Jacinta Bouchaud, Olivier Casanova, Jean-Laurent Puel, Anne Lanternier, Fanny J Fungi (Basel) Article Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria. Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation. MDPI 2022-04-25 /pmc/articles/PMC9144991/ /pubmed/35628702 http://dx.doi.org/10.3390/jof8050446 Text en © 2022 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 | Article Paccoud, Olivier Vignier, Nicolas Boui, Mohammed Migaud, Mélanie Vironneau, Pierre Kania, Romain Méchaï, Frédéric Brun, Sophie Alanio, Alexandre Tauziède-Espariat, Arnault Adle-Biassette, Homa Ouedraogo, Elise Bustamante, Jacinta Bouchaud, Olivier Casanova, Jean-Laurent Puel, Anne Lanternier, Fanny Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title | Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title_full | Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title_fullStr | Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title_full_unstemmed | Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title_short | Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature |
title_sort | invasive rhinosinusitis caused by alternaria infectoria in a patient with autosomal recessive card9 deficiency and a review of the literature |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9144991/ https://www.ncbi.nlm.nih.gov/pubmed/35628702 http://dx.doi.org/10.3390/jof8050446 |
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