Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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
_version_ 1784716183250927616
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
work_keys_str_mv AT paccoudolivier invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT vigniernicolas invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT bouimohammed invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT migaudmelanie invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT vironneaupierre invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT kaniaromain invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT mechaifrederic invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT brunsophie invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT alanioalexandre invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT tauziedeespariatarnault invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT adlebiassettehoma invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT ouedraogoelise invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT bustamantejacinta invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT bouchaudolivier invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT casanovajeanlaurent invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT puelanne invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature
AT lanternierfanny invasiverhinosinusitiscausedbyalternariainfectoriainapatientwithautosomalrecessivecard9deficiencyandareviewoftheliterature