Impaired immune response to Candida albicans in cells from Fanconi anemia patients

Parodi, Alessia; Kalli, Francesca; Svahn, Johanna; Stroppiana, Giorgia; Rocco, Daniela De; Terranova, Paola; Dufour, Carlo; Fenoglio, Daniela; Cappelli, Enrico

doi:10.1016/j.cyto.2015.02.016

Cited by 5 publications

(5 citation statements)

References 21 publications

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“…In their opinion, the high incidence of FI in FA patients may reflect an increased sensitivity to the conditioning agents used before the HCT, due to intrinsic defect of DNA repair . Parodi et al study showed a defective response of IL‐1β, TNF‐α, and IL‐17 to Candida albicans stimulation, resulting in a potentially impaired response to FI of FA patients …”

Section: Discussionmentioning

confidence: 99%

“…Candida albicans stimulation, resulting in a potentially impaired response to FI of FA patients. 28 The limitation of the study is its retrospective nature which did not allow to investigate the mechanisms of immune response to post-transplant infections, still the data presented provide a valuable input on the field of infectious complications in children transplanted for BMF. On the other hand, according to published data, this is the first ever study primarily focused on infectious complications in pediatric patients with SAA/BMF undergoing hematopoietic cell transplantation.…”

Section: Discussionmentioning

confidence: 99%

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Infection profile in children and adolescents with bone marrow failures treated with allogeneic hematopoietic stem cell transplantation

Zaucha‐Prażmo

Zawitkowska

Lejman

et al. 2019

Pediatric Transplantation

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Background The objective of the study was to analyze the profile of infections in children with BMF following alloHCT. Methods Data of 169 consecutive children with inherited and acquired BMF treated with alloHCT between 2012 and 2017 in Polish pediatric transplant departments were analyzed in registry‐based retrospective study, with respect to the type of infection, and clinical outcome. Results At least 1 infection was diagnosed in 107/169 patients (60.4%). In total, 182 infections were diagnosed. The most common were VI (96; 52.7%), followed by BI (71; 39.0%), and FI (15; 8.2%), P < .001. The most common etiological factors of VI were as follows: CMV (38.5%), EBV (22.9%), and BK virus (24%); while of BI were as follows: Staphylococcus spp. (17; 23.9%), Enterococcus faecium (10; 14.1%), and Klebsiella pneumoniae (9; 12.7%). No difference was found between the occurrence of infections with respect to donor type, graft source, and conditioning type. GvHD had no impact on the incidence of VI, BI, and FI. Fifteen FI were diagnosed in 12 patients, of which 14 FI were diagnosed in children transplanted for FA. Of total 107 children, 9 died (8.4%), of which 4 (3.7%) due to infections: bacterial sepsis (2) and invasive FI (2). Conclusion Infections in children with BMF following alloHCT remain an important cause of morbidity. Children with FA had high incidence of FI. In our analysis, aGvHD had no impact on the occurrence on infections, although the study was not strong enough to prove such a difference.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Infection profile in children and adolescents with bone marrow failures treated with allogeneic hematopoietic stem cell transplantation

Zaucha‐Prażmo

Zawitkowska

Lejman

et al. 2019

Pediatric Transplantation

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“…Despite the clinical significance of squamous cell carcinomas, there is still a lack of knowledge as to why FA patients have such an elevated risk of this type of cancer, which is rather uncommon in the general population. Premature aging, DNA fragility, endogenous and exogenous exposure to aldehydes, infections with the human papillomavirus and other chronic infections or inflammations have been discussed in this context but a clear mechanistic explanation is still lacking [55][56][57][58][59][60][61][62].…”

Section: Clinical Features Of Famentioning

confidence: 99%

Impact of Epigenetics on Complications of Fanconi Anemia: The Role of Vitamin D-Modulated Immunity

Velleuer

Carlberg

2020

Nutrients

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Fanconi anemia (FA) is a rare disorder with the clinical characteristics of (i) specific malformations at birth, (ii) progressive bone marrow failure already during early childhood and (iii) dramatically increased risk of developing cancer in early age, such as acute myeloid leukemia and squamous cell carcinoma. Patients with FA show DNA fragility due to a defect in the DNA repair machinery based on predominately recessive mutations in 23 genes. Interestingly, patients originating from the same family and sharing an identical mutation, frequently show significant differences in their clinical presentation. This implies that epigenetics plays an important role in the manifestation of the disease. The biologically active form of vitamin D, 1α,25-dihydroxyvitamin D3 controls cellular growth, differentiation and apoptosis via the modulation of the immune system. The nuclear hormone activates the transcription factor vitamin D receptor that affects, via fine-tuning of the epigenome, the transcription of >1000 human genes. In this review, we discuss that changes in the epigenome, in particular in immune cells, may be central for the clinical manifestation of FA. These epigenetic changes can be modulated by vitamin D suggesting that the individual FA patient’s vitamin D status and responsiveness are of critical importance for disease progression.

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“…, 2008; Pagano et al. , 2003, 2012; Zanier et al , 2004; Myers et al , 2011; Justo et al , 2014; Parodi et al , 2015; Sumpter et al , 2016), the well-established “canonical” function of the proteins is to work along a “linear” pathway that addresses replication stresses, assuring the transmission of a stable genome from one cell to the daughters and acting both during DNA replication to cope with stalled replication forks and in G2 and M phases to resolve underreplicated regions before cell division (Ceccaldi et al , 2016; Lopez-Martinez et al , 2016; Michl et al , 2016). How the other, noncanonical functions of the FANC proteins that are involved in cytokine production/response, inflammation (Rosselli et al , 1994; Fagerlie et al , 2001; Pang et al , 2001; Zanier et al , 2004; Briot et al , 2008), mitophagy Sumpter et al , 2016), and oxygen free radical metabolism (Joenje et al , 1981; Pagano et al , 2003; Pagano et al , 2012) as well as the subtle defects in immunity (Myers et al.…”

Section: Introductionmentioning

confidence: 99%

“…, 2014; Nguyen et al. , 2014; Parodi et al. , 2015) impact the clinical and cellular phenotypes of the patients remains a challenge for the future understanding of the pathology.…”

Section: Introductionmentioning

confidence: 99%

A never-ending story: the steadily growing family of the FA and FA-like genes

2017

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Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016.

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Impaired immune response to Candida albicans in cells from Fanconi anemia patients

Cited by 5 publications

References 21 publications

Infection profile in children and adolescents with bone marrow failures treated with allogeneic hematopoietic stem cell transplantation

Infection profile in children and adolescents with bone marrow failures treated with allogeneic hematopoietic stem cell transplantation

Impact of Epigenetics on Complications of Fanconi Anemia: The Role of Vitamin D-Modulated Immunity

A never-ending story: the steadily growing family of the FA and FA-like genes

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