Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment

Lai, Sophie; Duque, Jaime S. Rosa; Chung, Brian Hon‐Yin; Chung, Tom Wai-Hin; Leung, Daniel; Ho, Ronnie Siu-Lun; Lee, Raymand; Poon, Rosana W.S.; Chua, Gilbert T.; Cheong, Kai-Ning; Chui, Martin Man Chun; Lee, Mianne; Tam, Sidney; Him, Andrew Ho Cheuk; Cheng, K.P.; Ho, Won‐Kyung; Yuen, Kwok‐Yung; Lee, Pamela; Lau, Yu Lung

doi:10.1016/j.ijid.2021.04.052

Cited by 11 publications

(12 citation statements)

References 15 publications

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“…We reviewed the literature for reports of fungal infections occurring in patients with AR CARD9 deficiency and found 17 reports of phaeohyphomycosis in patients originating from China, Germany, Angola, Iran, Colombia, Japan, Argentina, and Morocco [ 14 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 ]. Patient characteristics, including our case, are summarized in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

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

Paccoud

Vignier

Boui

et al. 2022

JoF

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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.

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Section: Resultsmentioning

confidence: 99%

“…Of note, almost all (5/6, 83%) cases of disseminated diseases were caused by Exophiala spp. [ 14 , 22 , 28 , 29 , 31 ]. In contrast, most (4/5) cases of infections caused by Phialospora spp.…”

Section: Resultsmentioning

confidence: 99%

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

Paccoud

Vignier

Boui

et al. 2022

JoF

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“…In the past 20 years, 18 cases of CARD9-de cient phaeohyphomycosis have been identi ed worldwide [5][6][7][8][9][10][11][12][13][14][15], nine of which have been from our clinical center [12][13][14][15]. According to our previous studies, peripheral blood mononuclear cells (PBMCs) obtained from CARD9-de cient patients exhibited a selective impairment of proin ammatory cytokine production and adaptive immune responses upon speci c simulations.…”

Section: Introductionmentioning

confidence: 99%

Challenges toward management of CARD9-deficient patients with phaeohyphomycosis: a case report and case series study

Zhang¹,

Zhang²,

Ma³

et al. 2022

Preprint

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Here, we studied the genetic and immunological mechanisms underlying recalcitrant phaeohyphomycosis and shared our clinical experiences regarding its treatment. We followed-up and analyzed 10 patients with phaeohyphomycosis with CARD9 deficiency admitted to our department in the past two decades; one of them was a novel case of recalcitrant phaeohyphomycosis harboring CARD9 mutations. Consequently, we identified a total of seven CARD9 mutations in the analyzed patients. Moreover, patient-derived cells exhibited a significant impairment of innate and adaptive immune responses upon fungus-specific stimulation. All the patients experienced recurrence and exacerbation; among them four died, two exhibited continued disease progress with unsatisfactory therapeutic efficacy, three showed obvious improvement under maintenance therapy, and only one achieved clinical cure. Our study highlighted that otherwise healthy patients diagnosed with early-onset, unexplained, and recalcitrant phaeohyphomycosis should be analyzed for CARD9 mutations and immune deficiency. Thereafter, the length and choice of management remain challengeable, and must be adjusted based on the clinical presentation and response of patients over their lifetimes. Although continued posaconazole treatment may be the promising first-line therapy at present, novel strategies are worth exploring.

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“…These infections have been reported to be common in males than females probably because of their outdoor occupation 10,13,14 . However, there are few exclusive reports of dematiaceous fungi capable of causing infections in children as well 15,16 …”

Section: Introductionmentioning

confidence: 99%

“…10,13,14 However, there are few exclusive reports of dematiaceous fungi capable of causing infections in children as well. 15,16 These fungi cause different types of clinical syndrome which include choromoblastomycosis, mycetoma and phaeohyphomycosis. 8 The word 'phaeohyphomycosis' (phaeo-dark; hyphomycosis infection caused by dark-walled fungi) was coined by Ajello et al 17 for fungal infections caused by a heterogenous group of dematiaceous or melanised fungi mostly involving the skin (cutaneous) and subcutaneous tissues.…”

Section: Introductionmentioning

confidence: 99%

Novel cases of cutaneous phaeohyphomycosis by Alternaria alstromeriae, Epicoccum tritici and Phialemonium obovatum from North India

Sharma

Nonzom

2021

Mycoses

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Background A growing number of non‐dermatophytic moulds and yeasts with the ability to act as human pathogens are reported every year. Dematiaceous fungi cause phaeohyphomycosis which encompasses a broad spectrum of diseases ranging from superficial (cutaneous and subcutaneous) to disseminated infections. Such fungal infections are responsible for causing significant morbidity and mortality, frequently in immunocompromised patients and rarely in immunocompetent patients. Objectives To investigate the prevalence of cutaneous mycosis in Jammu district (India) and to isolate and identify the recovered causal agents from the affected skin of the patients. Methods For direct microscopy, 10% KOH was used. Skin samples were collected carefully from the affected areas of suspected patients, followed by the isolation and identification of the causal agents by cultural examination, morphological examination and ITS sequencing. Results Herein, we report and describe three new cases of cutaneous phaeohyphomycosis from District Jammu of Union Territory Jammu and Kashmir, India. The age of the patients under study ranged from 17 to 42 years and the duration of infection from 1 to 2 years. The etiological agents that were recovered from the patients under study were Alternaria alstromeriae, Epicoccum tritici and Phialemonium obovatum. These dematiaceous fungal species were isolated from the skin specimen of immunocompetent hosts. Conclusion Among the three isolated etiological agents, two (Alternaria alstromeriae, Epicoccum tritici) represent new global records and one (Phialemonium obovatum) new record to India as causal agents of cutaneous phaeohyphomycosis. Careful microscopic and mycological examination form the basis of correct diagnosis of such fungal infections in the absence of simple and reliable laboratory tests (serologic or antigen tests).

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Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment

Cited by 11 publications

References 15 publications

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

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

Challenges toward management of CARD9-deficient patients with phaeohyphomycosis: a case report and case series study

Novel cases of cutaneous phaeohyphomycosis by Alternaria alstromeriae, Epicoccum tritici and Phialemonium obovatum from North India

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