Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency

Françoise, Ugo; Lafont, Emmanuel; Suarez, Félipe; Lortholary, Olivier

doi:10.1007/s10875-022-01329-y

Cited by 6 publications

(5 citation statements)

References 4 publications

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“…The molecularly defined IEI associated with severe or disseminated cryptococcosis strikingly overlap with those that predispose one to infection with TDEF, namely, MSMD [ 253 , 254 , 255 ], GATA2 [ 174 , 176 ], CD40L deficiency [ 163 , 256 , 257 , 258 , 259 , 260 , 261 , 262 , 263 ], STAT1 GOF [ 47 , 264 , 265 ], and DN-STAT3 [ 266 , 267 ]; these IEI have been detailed above. This overlap most likely reflects a comparable, if not homologous, immunopathophysiology ( Figure 2 ).…”

Section: Cryptococcosismentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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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.

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Section: Cryptococcosismentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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“…All cases have been disseminated. XL-HIGM also predisposes to Cryptococcus [ 158 , 159 , 160 , 161 , 162 , 163 , 164 ]. In this context, cryptococcosis can present with ‘classical’ manifestations (i.e., involvement of the CNS) as well as ‘atypical’ presentations, including lymphonodular, cutaneous, or visceral involvement.…”

Section: Methodsmentioning

confidence: 99%

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

Olbrich

Vinh

2023

JoF

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Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, predisposing patients to infections, autoinflammatory/autoimmunity syndromes, atopy/allergies, lymphoproliferative disorders, and/or malignancies. An emerging manifestation is susceptibility to fungal disease, caused by yeasts or moulds, in a superficial or invasive fashion. In this review, we describe recent advances in the field of inborn errors of immunity associated with increased susceptibility to fungal disease.

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“…The higher prevalence of autoantibodies to IFNγ in individuals of Asian ancestry who were born in Asia but not elsewhere suggests that both environmental and genetic factors are involved 121 . Moreover, impaired T cell responses promote cryptococcosis in the setting of CD40L deficiency 124 . GATA2 deficiency predisposes to infection with various intramacrophagic pathogens, including mycobacteria and Cryptococcus , associated with profound monocytopenia 125 .…”

Section: Cryptococcosismentioning

confidence: 99%

Immune responses to human fungal pathogens and therapeutic prospects

2023

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Pathogenic fungi have emerged as significant causes of infectious morbidity and death in patients with acquired immunodeficiency conditions such as HIV/AIDS and following receipt of chemotherapy, immunosuppressive agents or targeted biologics for neoplastic or autoimmune diseases, or transplants for end organ failure. Furthermore, in recent years, the spread of multidrug-resistant Candida auris has caused life-threatening outbreaks in health-care facilities worldwide and raised serious concerns for global public health. Rapid progress in the discovery and functional characterization of inborn errors of immunity that predispose to fungal disease and the development of clinically relevant animal models have enhanced our understanding of fungal recognition and effector pathways and adaptive immune responses. In this Review, we synthesize our current understanding of the cellular and molecular determinants of mammalian antifungal immunity, focusing on observations that show promise for informing risk stratification, prognosis, prophylaxis and therapies to combat life-threatening fungal infections in vulnerable patient populations.

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Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency

Cited by 6 publications

References 4 publications

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases

Immune responses to human fungal pathogens and therapeutic prospects

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