A case of disseminated subcutaneous phaeohyphomycosis caused by <i>Exserohilum rostratum</i> with <i>CARD9</i> mutation

Kalantri, Mayuri; Khopkar, Uday; Shah, Avani; Bargir, Umair Ahmed; Hule, Gouri; Madkaikar, Manisha

doi:10.25259/ijdvl_293_19

Cited by 4 publications

(4 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Nearly 35 years later, the first evidence to support his hypothesis was confirmed with the identification of AR CARD9 deficiency in four patients with pheohyphomycosis due to P. verrucosa [ 447 ]. This inborn error of immunity has since been identified in pheohyphomycosis due to Exophiala [ 448 , 449 , 450 , 451 ], other Phialophora species [ 452 ], Aureobasidium [ 453 ], Alternaria [ 454 , 455 ], and Exserohilum [ 456 ], as well as more esoteric dematiaceous fungi, including Pallidocercospora crystallina , Ochroconis musae, and Corynespora cassiicola [ 449 , 457 , 458 , 459 ]. Intriguingly, disseminated infection with C. cassiicola (with extension into the CNS) has also been reported in a patient with compound heterozygous mutations in CLEC7A (encoding Dectin-1, which is a fungal pattern recognition receptor that signals through CARD9) [ 460 ].…”

Section: Pheohyphomycosis (Dematiaceous Fungi)mentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

View full text Add to dashboard Cite

In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses. By extension, they have also enabled the identification of naturally occurring auto-antibodies to cytokines that phenocopy such susceptibility. This review provides a comprehensive update of IEI and autoantibodies that inherently predispose humans to various fungal diseases.

show abstract

Section: Pheohyphomycosis (Dematiaceous Fungi)mentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

View full text Add to dashboard Cite

show abstract

“…3 Recent studies have revealed that inherited CARD9 deficiency increases the risk of superficial and invasive fungal diseases caused by various fungi, including severe or disseminated phaeohyphomycosis. 4 In the past 20 years, 18 cases of CARD9-deficient phaeohyphomycosis have been identified worldwide, [5][6][7][8][9][10][11][12][13][14][15] nine of which were from our clinical centre. [12][13][14][15] According to our previous studies, peripheral blood mononuclear cells (PBMCs) obtained from CARD9-deficient patients exhibited a selective impairment of proinflammatory cytokine production and adaptive immune responses upon specific simulations.…”

Section: Introductionmentioning

confidence: 99%

“…In the past 20 years, 18 cases of CARD9‐deficient phaeohyphomycosis have been identified worldwide, 5‐15 nine of which were from our clinical centre 12‐15 . According to our previous studies, peripheral blood mononuclear cells (PBMCs) obtained from CARD9‐deficient patients exhibited a selective impairment of proinflammatory cytokine production and adaptive immune responses upon specific simulations.…”

Section: Introductionmentioning

confidence: 99%

Challenges towards management of CARD9‐deficient patients with phaeohyphomycosis: A case report and case series study

Zhang

et al. 2023

Mycoses

View full text Add to dashboard Cite

Background: A number of recalcitrant phaeohyphomycosis cases with a lifethreatening prognosis have been observed in CARD9-deficient patients, but little is known about the long-term management strategies that are effective for such intrac- table individuals.Objectives: To study the genetic and immunological mechanisms underlying recalcitrant phaeohyphomycosis and to share our clinical experiences regarding its treatment.Patients/Methods: Ten CARD9-deficient patients with recalcitrant phaeohyphomycosis admitted to our centre in the past two decades were followed-up, and their clinical presentations, laboratory findings, treatment and prognoses were analysed; one of them was a novel case of recalcitrant phaeohyphomycosis harbouring CARD9 mutations. Innate and adaptive immunological responses of patient-derived peripheral blood mononuclear cells were evaluated using ELISA and flow cytometry. Results:We identified a total of seven CARD9 mutations in the ten analysed 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; four of them died, two exhibited continued disease progress with unsatisfactory therapeutic efficacy, three showed obvious improvement under maintenance therapy, and only one achieved a clinical cure. Conclusions:Our study highlighted that otherwise healthy patients diagnosed with early-onset, unexplained and recalcitrant phaeohyphomycosis should be analysed for CARD9 mutations and immune deficiency. Thereafter, the length and choice of management remain challengeable and must be adjusted based on the clinical presentations and responses of patients over their lifetimes. Although continued posaconazole treatment may be the promising first-line therapy at present, novel strategies are worth exploring.

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

A case of disseminated subcutaneous phaeohyphomycosis caused by Exserohilum rostratum with CARD9 mutation

Cited by 4 publications

References 10 publications

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Challenges towards management of CARD9‐deficient patients with phaeohyphomycosis: A case report and case series study

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

Contact Info

Product

Resources

About