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Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

Authors :
Olivier Paccoud
Nicolas Vignier
Mohammed Boui
Mélanie Migaud
Pierre Vironneau
Romain Kania
Frédéric Méchaï
Sophie Brun
Alexandre Alanio
Arnault Tauziède-Espariat
Homa Adle-Biassette
Elise Ouedraogo
Jacinta Bustamante
Olivier Bouchaud
Jean-Laurent Casanova
Anne Puel
Fanny Lanternier
Source :
Journal of Fungi, Vol 8, Iss 5, p 446 (2022)
Publication Year :
2022
Publisher :
MDPI AG, 2022.

Abstract

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.

Details

Language :
English
ISSN :
2309608X
Volume :
8
Issue :
5
Database :
Directory of Open Access Journals
Journal :
Journal of Fungi
Publication Type :
Academic Journal
Accession number :
edsdoj.2ae06719e215446fba012f1d075df212
Document Type :
article
Full Text :
https://doi.org/10.3390/jof8050446