<i>
              <scp>CARD</scp>
              9
            </i>
            mutation linked to
            <i>Corynespora cassiicola</i>
            infection in a Chinese patient

Yan, Xiaoxiao; Yu, Chang‐Ping; Fu, Xi’an; Bao, Fangfang; Du, Donghong; Wang, C.; Wang, N.; Wang, S.F.; Shi, Zhonghua; Zhou, Guangjun; Tian, Haijun; Liu, H.; Zhang, F.R.

doi:10.1111/bjd.14082

Cited by 56 publications

(51 citation statements)

References 15 publications

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“…P1 had two compound heterozygous mutations in exon 2 and exon 6 (c.68C>A and c.819-820insG, p.S23X and p.D274fsX60), whereas P2 harbored a homozygous frame shift mutation in exon 6 (c.819e820insG, p.D274fsX60) (see Supplementary Figure S1a online). As for P3, in addition to the frameshift mutation involving exon 3 (c.191e192insTGCT, p.L64fsX59) noted in a previous report (Yan et al, 2016), we identified another CARD9 mutation involving exon 6 (c.819e820insG, p.D274fsX60) (see Supplementary Figure S1a). The parents of P1, the offspring of P2, and the siblings of P3 were all asymptomatic and heterozygous carriers of one corresponding mutation.…”

Section: Card9 Mutation and Expression Analysessupporting

confidence: 73%

See 1 more Smart Citation

Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis

Wang

Zhang

et al. 2018

Journal of Investigative Dermatology

114

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Phaeohyphomycosis is a group of severe infections caused by dematiaceous fungi. We previously identified CARD9 deficiencies in four Chinese patients with phaeohyphomycosis caused by Phialophora verrucosa. In this study, we sought to identify the genetic and immunological mechanisms underlying rare dematiaceous fungal infections in three otherwise healthy patients with phaeohyphomycosis caused by Exophiala spinifera, Ochroconis musae, and Corynespora cassiicola. CARD9 sequencing in these patients showed one mutation (p.S23X) that, to our knowledge, has not been characterized and two previously characterized mutations (p.D274fsX60 and p.L64fsX59) that led to lack of CARD9 protein expression. Patient-derived CARD9-deficient cells showed a selective impairment of proinflammatory cytokine and chemokine production, NF-κB activation, and T helper type 22- and T helper type 17-associated responses upon fungus-specific stimulation, whereas phagocytosis and reactive oxygen species production were intact. Consistently, Card9-knockout mice were highly susceptible to phaeohyphomycosis and exhibited immune deficiencies similar to those of patients, including diminished NF-κB and p38 MAPK activation in local and in vitro functional studies. This work clarifies the association between inherited CARD9 deficiencies and phaeohyphomycosis, and furthers current knowledge on the spectrum and pathophysiology of diseases resulting from CARD9 deficiencies.

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Section: Card9 Mutation and Expression Analysessupporting

confidence: 73%

“…She had swollen and painful facial plaques ( Figure 1c) for 3 years, which were aggravated after a local resection. The patient's clinical, histopathological, and mycological data have been described previously (Yan et al, 2016). A non-contrast computed tomography scan showed local swelling, with no other obvious abnormal findings.…”

Section: Case Summarymentioning

confidence: 56%

Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis

Wang

Zhang

et al. 2018

Journal of Investigative Dermatology

114

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“…Thus, patients with P. verrucosa-related infections, without any trauma history or known immunocompromise conditions should be investigated for CARD9 deficiency. Corynespora cassiicola cutaneous infection was also reported in a patient with heterozygous CARD9 mutation [21]. The patient was reported with extensive, dark, red infiltrative plaques on her face.…”

Section: Phaeohyphomycosismentioning

confidence: 86%

New clinical phenotypes of fungal infections in special hosts

Pilmis

Puel

Lortholary

et al. 2016

Clinical Microbiology and Infection

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Incidence of invasive fungal infections increases over time with the rise in at-risk populations; in particular, patients with acquired immunodeficiencies due to immunosuppressive therapies such as anti-tumour necrosis factor-α (TNF-α) treatment, cirrhosis or burns. Some primary immunodeficiencies (PID) can also predispose selectively to invasive fungal diseases. Conversely, some atypical fungal diseases can reveal new PID. Deep dermatophytosis, Candida central nervous system infections or gastrointestinal disease, or disseminated phaeohyphomycosis-revealed CARD9 deficiency. Most patients with inherited chronic mucocutaneous candidiasis were found to carry STAT1 gain-of-function mutations. The spectrum of fungal susceptibility and clinical presentation varies according to the PID. Among acquired immunodeficiencies, immunosuppressive treatments such as TNF-α blocker therapy, which has revolutionized autoimmune disorder treatment, may be complicated by endemic mycosis, aspergillosis, pneumocystosis or cryptococcosis. Burn patients with damaged skin barrier protection are susceptible to severe Candida infections and filamentous fungal infections (such as Aspergillus spp., Mucorales). Moreover, patients with cirrhosis are at increased risk of fungal infections. Therefore, physicians should think of any potential underlying acquired or inherited immunodeficiency in a patient developing an atypical fungal infection, or of a potential fungal disease in the context of an atypical presentation in specific hosts.

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“…Finally, a CARD9 mutation has been identified in a 37-year-old female Chinese patient with disfiguring subcutaneous phaeohyphomycosis due to Corynespora cassiicola , a plant pathogen frequently affecting fruits (e.g. cucumber, tomato) [73] (Table 2). Only four other cases of C. cassiicola disease have been reported, mostly in Asia, and all with an onset in late adulthood (over the age of 57 years), and affecting the hands, legs or eyes.…”

Section: Invasive Fungal Diseases: Inborn Errors Of Card9 Immunitymentioning

confidence: 99%

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

Vinh

Casanova³

et al. 2017

Current Opinion in Microbiology

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It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign, but some are chronic or life-threatening. Acquired and inherited defects of immunity, including breaches of mucocutaneous barriers and circulating leukocyte deficiencies, account for most severe modern-day mycoses. Other types of infection typically accompany these fungal infections. More rarely, severe fungal diseases can strike otherwise healthy individuals. Historical reports of fungi causing chronic peripheral (e.g. affecting the nails, skin, hair) infections, and invasive disease (e.g. brain, lungs, liver), in otherwise healthy patients, can be traced back to the mid-20th century. These fungi typically cause endemic, but not epidemic diseases, are more likely to underlie sporadic than familial cases, and only threaten a small proportion of infected individuals. The basis of this “idiosyncratic” susceptibility has long remained unexplained, but it has recently become apparent that “idiopathic” fungal diseases, in children, teenagers, and even adults, may be caused by single-gene inborn errors of immunity. The study of these unusual primary immunodeficiencies (PIDs) has led to the identification of molecules and cells playing a crucial role in human host defenses against certain fungi at particular anatomic sites. A picture is emerging of inborn errors of IL-17 immunity selectively underlying chronic mucocutaneous candidiasis, with little inter-individual variability, and of inborn errors of CARD9 immunity underlying various life-threatening invasive fungal diseases, differing between patients.

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CARD 9 mutation linked to Corynespora cassiicola infection in a Chinese patient

Cited by 56 publications

References 15 publications

Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis

Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis

New clinical phenotypes of fungal infections in special hosts

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

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