Fungal infections in primary immunodeficiency diseases

Elaziz, Dalia Abd; El-Ghany, Mohamed N. Abd; Meshaal, Safa; Hawary, Rabab El; Lotfy, Sohilla; Galal, Nermeen; Ouf, Salama A.; Elmarsafy, Aisha

doi:10.1016/j.clim.2020.108553

Cited by 19 publications

(19 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…e mortality rate reported in this study was 35.7% [11]. PID patients are at high risk of developing fungal infections [11], indicating the need to determine the causative fungus, often by invasive diagnostics, to guide optimal and rational treatment [12]. is investigation aims to report a rare CGD case in an 11-yearold preadolescent boy with CGD and complicated candida pneumonia.…”

Section: Introductionmentioning

confidence: 89%

Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease

Asseri

Al-Jarie

Alassim

et al. 2022

Case Reports in Pediatrics

View full text Add to dashboard Cite

Invasive fungal infection is a major threat to chronic granulomatous disease (CGD) patients. We present a rare case of invasive mycosis in a CGD boy. An 11-year-old preadolescent boy presented with fever, hypoxia, and dyspnea. Physical examination revealed left neck enlarged lymph nodes with healed scars. The chest revealed bilateral diminished air entry with bilateral coarse crackles. Peripheral blood leukocyte count was 28.260/μL with 84% neutrophil, 11% lymphocyte, and 4.4% monocyte. The patient’s condition deteriorated regardless of the empirical antibacterial against MRSA and suspected tuberculosis. A sputum sample was submitted for mycological investigation, and budding yeasts with pseudohyphae were detected in the direct smear and were isolated in pure culture using Sabouraud agar. Candida tropicalis was identified from cultural and microscopic features and confirmed by the Vitek 2 automated system. This result confirmed the invasive mycosis, obviously due to the underlying primary immunodeficiency, chronic granulomatous disease (CGD). Amphotericin was added, and he also received IV methylprednisolone for seven days. The patient improved and was weaned off oxygen with no fever. However, the patient was referred to a higher center for further workup, which confirmed CGD’s diagnosis. He is on the list for HLA-identical bone marrow transplantation (BMT).

show abstract

Section: Introductionmentioning

confidence: 89%

Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease

Asseri

Al-Jarie

Alassim

et al. 2022

Case Reports in Pediatrics

View full text Add to dashboard Cite

show abstract

“…Immunoglobulins (Igs) IgG, IgA, IgE, and IgM as part of the humoral adaptive immunity mediate protection through direct actions on fungal cells, and classical mechanisms such as phagocytosis and complement activation are affected in case of mutations in genes coding for those Igs ( Kaufman, 1985 ; Lionakis et al, 2014 ; Table 1 ). MHC class II defects lead to primary immunodeficiency disease (PIDD) and make individuals susceptible to a high rate of fungal infection like Candidiasis and PCP ( Lanternier et al, 2013 ; Abd Elaziz et al, 2020 ). Mutation in CARD9 and DOCK8 (dedicator of cytokinesis 8) among PIDD individuals makes them susceptible to Malassezia infection, and deficiency in STAT3 leads to IPA ( Abd Elaziz et al, 2020 ).…”

Section: Genetic Polymorphism Of the Immune System Linked To Fungal Infectionsmentioning

confidence: 99%

“…MHC class II defects lead to primary immunodeficiency disease (PIDD) and make individuals susceptible to a high rate of fungal infection like Candidiasis and PCP ( Lanternier et al, 2013 ; Abd Elaziz et al, 2020 ). Mutation in CARD9 and DOCK8 (dedicator of cytokinesis 8) among PIDD individuals makes them susceptible to Malassezia infection, and deficiency in STAT3 leads to IPA ( Abd Elaziz et al, 2020 ). Summary of the immune-related genes responsible for susceptibility to fungal infection is highlighted in Table 1 .…”

Section: Genetic Polymorphism Of the Immune System Linked To Fungal Infectionsmentioning

confidence: 99%

Genetic Susceptibility to Fungal Infections and Links to Human Ancestry

et al. 2021

View full text Add to dashboard Cite

Over the ages, fungi have associated with different parts of the human body and established symbiotic associations with their host. They are mostly commensal unless there are certain not so well-defined factors that trigger the conversion to a pathogenic state. Some of the factors that induce such transition can be dependent on the fungal species, environment, immunological status of the individual, and most importantly host genetics. In this review, we discuss the different aspects of how host genetics play a role in fungal infection since mutations in several genes make hosts susceptible to such infections. We evaluate how mutations modulate the key recognition between the pathogen associated molecular patterns (PAMP) and the host pattern recognition receptor (PRR) molecules. We discuss the polymorphisms in the genes of the immune system, the way it contributes toward some common fungal infections, and highlight how the immunological status of the host determines fungal recognition and cross-reactivity of some fungal antigens against human proteins that mimic them. We highlight the importance of single nucleotide polymorphisms (SNPs) that are associated with several of the receptor coding genes and discuss how it affects the signaling cascade post-infection, immune evasion, and autoimmune disorders. As part of personalized medicine, we need the application of next-generation techniques as a feasible option to incorporate an individual’s susceptibility toward invasive fungal infections based on predisposing factors. Finally, we discuss the importance of studying genomic ancestry and reveal how genetic differences between the human race are linked to variation in fungal disease susceptibility.

show abstract

“…They are present on skin and mucous membranes of the oral cavity and gastrointestinal and genitourinary tracts [ 1 , 2 , 4 , 5 , 6 , 7 , 8 , 9 ]. These fungi cause superficial or invasive infections in individuals with impaired immunity [ 10 , 11 , 12 ]. The term invasive candidiasis refers to candidemia and infections of other normally sterile sites [ 13 , 14 , 15 , 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis and Treatment of Invasive Candidiasis

Barantsevich

2022

Antibiotics

View full text Add to dashboard Cite

Candida species, belonging to commensal microbial communities in humans, cause opportunistic infections in individuals with impaired immunity. Pathogens encountered in more than 90% cases of invasive candidiasis include C. albicans, C. glabrata, C. krusei, C. tropicalis, and C. parapsilosis. The most frequently diagnosed invasive infection is candidemia. About 50% of candidemia cases result in deep-seated infection due to hematogenous spread. The sensitivity of blood cultures in autopsy-proven invasive candidiasis ranges from 21% to 71%. Non-cultural methods (beta-D-glucan, T2Candida assays), especially beta-D-glucan in combination with procalcitonin, appear promising in the exclusion of invasive candidiasis with high sensitivity (98%) and negative predictive value (95%). There is currently a clear deficiency in approved sensitive and precise diagnostic techniques. Omics technologies seem promising, though require further development and study. Therapeutic options for invasive candidiasis are generally limited to four classes of systemic antifungals (polyenes, antimetabolite 5-fluorocytosine, azoles, echinocandins) with the two latter being highly effective and well-tolerated and hence the most widely used. Principles and methods of treatment are discussed in this review. The emergence of pan-drug-resistant C. auris strains indicates an insufficient choice of available medications. Further surveillance, alongside the development of diagnostic and therapeutic methods, is essential.

show abstract

Fungal infections in primary immunodeficiency diseases

Cited by 19 publications

References 37 publications

Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease

Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease

Genetic Susceptibility to Fungal Infections and Links to Human Ancestry

Diagnosis and Treatment of Invasive Candidiasis

Contact Info

Product

Resources

About