Generalized lymphadenopathy caused by<i>Trichosporon asahii</i>in a patient with Job's syndrome

The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab) are hoped to be successful treatment in future.

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“…[55] Other reported opportunistic infections are cryptococcal meningitis and generalized lymphadenopathy caused by trichosporonosis. [56]…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

et al. 2017

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“…Invasive infections by Trichosporon are frequently fatal for immunocompromised patients, with an estimated 77% mortality rate (Girmenia et al 2005). Despite its epidemiological significance, only a few pathogenicity traits have been reported and addressed for this genus, such as biofilm production, broad antimycotic resistance and growth at high temperatures (Chakrabarti et al 2002;Di Bonaventura et al 2006;Pagano et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Lifestyle transitions in basidiomycetous fungi are reflected by tRNA composition and translation efficiency of metabolic genes

Guerreiro

Yurkov

Nowrousian

et al. 2023

Preprint

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Fungi are ubiquitous and inhabit every known terrestrial habitat. Pathogenic fungi are highly diverse, and recent years have seen an uprise in the emergence of new pathogens on crops, animals and humans. The order Trichosporonales (Tremellomycetes, Agaricomycotina, Basidiomycota) harbours saprobic and a few opportunistic human pathogenic species. These emerging pathogens cause superficial skin irritations, as well as invasive life-threatening infections. Yet, little is known about their evolution, ecology, virulence mechanisms and transition to pathogenic lifestyles. In this study we aimed to determine genomic signatures associated with lifestyle transitions, virulence and host/substrate specialization among 30 Trichosporonales species from a total of 41 genome sequences. We used comparative analyses of genome content, including gene functional categories, repetitive element content and tRNA composition among saprotrophic and reported opportunistic human pathogens. A genome-scale phylogenetic reconstruction revealed that even though the different genera are monophyletic, opportunistic pathogenic species are present in distantly-related clades. Statistical analyses showed that differences in genome structure among species did not correlate with predicted lifestyles. Intriguingly, we found that tRNA content varied widely across species (from 51 to 1455 manually curated tRNA genes). The expansion was independent from the phylogenetic structure. Opportunistic pathogenic species showed an overall increased efficiency in the translation of genes associated with host colonization (i.e. lipid metabolism), while exclusively saprotrophic species showed an increase translation efficiency for genes associated with a saprotrophic lifestyle (i.e. carbohydrate metabolism). This pattern was consistent among distantly-related saprotrophic and pathogenicCryptococcusspecies (order Tremellales). In conclusion, our analyses link genomic information with ecology and fungal lifestyles across an entire order. We find evidence for an evolutionary scenario where distinct habitats select for an optimized translation of genes involved in successful proliferation in the respective habitat. We predict that lifestyles are not strictly defined by gene repertoires, but also by expression profiles in fungal pathogens.

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Fungal Infections in Primary and Acquired Immunodeficiencies

Georgiadou

Kontoyiannis

2017

Immunogenetics of Fungal Diseases

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Generalized lymphadenopathy caused byTrichosporon asahiiin a patient with Job's syndrome

Cited by 19 publications

References 35 publications

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

Lifestyle transitions in basidiomycetous fungi are reflected by tRNA composition and translation efficiency of metabolic genes

Fungal Infections in Primary and Acquired Immunodeficiencies

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