Outcome of chronic granulomatous disease ‐ Conventional treatment vs stem cell transplantation

Dedieu, Cinzia; Albert, Michael H.; Mahlaoui, Nizar; Hauck, Fabian; Hedrich, Christian M.; Baumann, Ulrich; Warnatz, Klaus; Roesler, Joachim; Speckmann, Carsten; Schulte, Johannes H.; Fischer, Alain; Blanche, Stéphane; Bernuth, Horst von; Kühl, Jörn‐Sven

doi:10.1111/pai.13402

Cited by 25 publications

(18 citation statements)

References 30 publications

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“…Randomized, placebo-controlled trials followed for interferon gamma [ 21 ] and itraconazole [ 18 ]. Bone marrow or stem cell transplantation can be curative [ 22 , 23 ], while gene therapy (reviewed in [ 24 ]) remains under investigation as a curative therapy.…”

Section: Introductionmentioning

confidence: 99%

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features

et al. 2022

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Purpose Chronic granulomatous disease (CGD) is an uncommon, inborn error of immunity. We updated our large, single-center US experience with CGD and describe some newly recognized features. Methods We retrospectively reviewed 26 patients seen from November 2013 to December 2019. Serious infections required intravenous antibiotics or hospitalization. Results There were 21 males and 5 females. The most frequent infectious agents at presentation were aspergillus (4), serratia (4), burkholderia (2), Staphylococcus aureus (2), and klebsiella (2). The most common serious infections at presentation were pneumonia (6), lymphadenitis (6), and skin abscess (3). Our serious infection rate was 0.2 per patient-year from December 2013 through November 2019, down from 0.62 per patient-year from the previous study period (March 1985–November 2013). In the last 6 years, four patients were evaluated for human stem cell transplantation, two were successfully transplanted, and we had no deaths. Several patients had unusual infections or autoimmune manifestations of disease, such as pneumocystis pneumonia, basidiomycete/phellinus fungal pneumonia, and retinitis pigmentosa. We included one carrier female with unfavorable Lyonization in our cohort. Conclusion We update of a large US single-center experience with CGD and describe some recently identified features of the illness.

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Section: Introductionmentioning

confidence: 99%

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features

et al. 2022

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“…Conventional treatment for CGD is antifungal and antibacterial prophylaxis with azoles and cotrimoxazole, and immunosuppressive therapy (27,28). Prophylaxis leads to a significant reduction in death rates, but infections reportedly occur at a rate of 0.26-0.64 per patient-year (29,30), whose cumulative lifetime risk for aspergillosis of 20-40% being the leading cause of death (27). Martire et al reported the median lifespan of CGD patients receiving conventional treatment to be 30-40 years (29), which was mainly relied on the NADPH oxidase's residual activity (5).…”

Section: Discussionmentioning

confidence: 99%

“…Martire et al reported the median lifespan of CGD patients receiving conventional treatment to be 30-40 years (29), which was mainly relied on the NADPH oxidase's residual activity (5). Other treatment options, such as long-term use of corticosteroids (which are immunosuppressants), further increase the risk of infections and failure to thrive (27,28).…”

Section: Discussionmentioning

confidence: 99%

“…High-risk patients with ongoing infectious or active inflammatory complications at HSCT initiation have considerable transplant-related mortality (≤38%) (31,32). In addition, Dedieu et al reported that CGD patients undergoing HSCT until 8 years of age showed excellent survival, but young children needed more intense conditioning to avoid graft rejection (27). Therefore, reducing infection while resisting graft-versus-host disease (GVHD) is particularly important (31,40,41).…”

Section: Discussionmentioning

confidence: 99%

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Effects of voriconazole on population pharmacokinetics and optimization of the initial dose of tacrolimus in children with chronic granulomatous disease undergoing hematopoietic stem cell transplantation

Chen¹,

Wang²,

Lan³

et al. 2021

Ann Transl Med

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Background: This study aimed to explore the effects of voriconazole on population pharmacokinetics and optimization of the initial dose of tacrolimus in children with chronic granulomatous disease (CGD) undergoing hematopoietic stem cell transplantation (HSCT).Methods: Thirty-four children with CGD undergoing HSCT were assessed to establish a population pharmacokinetic model (PPM) using the non-linear mixed effect. Tacrolimus concentrations were simulated by the Monte Carlo method in children weighing <25 kg at different doses.Results: In the final model, weight and concomitant use of voriconazole were included as covariates. With the same weight, the relative value of tacrolimus clearance was 1:0.388 in children not taking voriconazole: children taking voriconazole. Compared with children not taking voriconazole, the measured tacrolimus concentrations were all higher in children taking voriconazole (P<0.01); however, these were not corrected by dose or body weight for concentration differences. Thus, we simulated the tacrolimus concentrations using different body weights (5-25 kg) and different dose regimens (0.1-0.8 mg/kg/day) for the same body weight and dose. Tacrolimus concentrations in children taking voriconazole were higher than those in children not taking voriconazole (P<0.01). Also, in children with CGD undergoing HSCT who were not taking voriconazole, the initial dose regimen of 0.5 mg/kg/day was recommended for body weights of 5-10 kg, and 0.4 mg/kg/day was recommended for body weights of 10-25 kg. In children with CGD undergoing HSCT who were taking voriconazole, an initial dose regimen of 0.3 mg/kg/day was recommended for body weights of 5-25 kg. Conclusions:We established, for the first time, a PPM of tacrolimus in children with CGD undergoing HSCT in which voriconazole significantly increased tacrolimus concentrations. In addition, the initial dose of tacrolimus in children with CGD undergoing HSCT was recommended.

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“…Hematopoietic stem cell transplantation is the only definitive treatment that can cure CGD. The third commented article in this editorial is a retrospective study by Dedieu and colleagues from Berlin on the benefice of stem cell transplantation in the treatment of CGD 14 . They reviewed data from 104 CGD patients of whom 50 were treated by stem cell transplantation.…”

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confidence: 99%

Comments on vitamin D in asthma, milk allergy diagnosis, and stem cell transplantation in chronic granulomatous disease

Eigenmann

2021

Pediatric Allergy Immunology

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Comments on vitamin D in asthma, milk allergy diagnosis, and stem cell transplantation in chronic granulomatous diseaseArtificial intelligence is becoming more and more important in our life, and therefore also in the practice of our specialization. However, for most of us, it still remains rather obscure how it influences our decisions in clinical care as well as in research. By reading the opening article

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Outcome of chronic granulomatous disease ‐ Conventional treatment vs stem cell transplantation

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 25 publications

References 30 publications

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features

Effects of voriconazole on population pharmacokinetics and optimization of the initial dose of tacrolimus in children with chronic granulomatous disease undergoing hematopoietic stem cell transplantation

Comments on vitamin D in asthma, milk allergy diagnosis, and stem cell transplantation in chronic granulomatous disease

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