Lupus Erythematosus and Chronic Granulomatous Disease:  Report of Four Iranian Patients with AR-CGD and One XL-CGD

Maddah, Marzieh; Fazlollahi, Mohammad Reza; Shiari, Reza; Shahram, Farhad; Mamishi, Setareh; Babaie, Delara; Monajemzadeh, Maryam; Sotudeh, Soheila; Hamidieh, Amir Ali; Badalzadeh, Mohsen; Tajik, Shaghayegh; Sedighipour, Leila; Pourpak, Zahra

doi:10.18502/ijaai.v18i4.1426

Cited by 6 publications

(4 citation statements)

References 24 publications

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“…The nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms (especially catalase-positive bacteria and fungi) (9). In CGD, the NADPH oxidase complex is dysfunctional, and CGD patients are more likely to suffer from autoimmune disorders, such as liver-function abnormalities, hollowviscera obstruction, and inflammatory bowel disease, which exhibit multiple-system involvement (2,10,11).…”

Section: Introductionmentioning

confidence: 99%

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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Section: Introductionmentioning

confidence: 99%

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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“…Granuloma formation, a classical finding of CGD that occurs as a result of uncontrolled inflammatory response, is identified in nearly 70% of patients and commonly affects the gastrointestinal tract, lungs, and urogenital tract [4]. In recent years, it has become evident that patients with CGD are at a higher risk of autoimmune diseases, including discoid and systemic lupus erythematosus, juvenile idiopathic arthritis, autoimmune thrombocytopenia, and antiphospholipid syndrome [5][6][7]. Although the mechanisms underlying the increased risk of autoimmune diseases associated with CGD are not fully understood, defects in phagocytic function are suggested to result in repeated antigen stimulation and hypergammaglobulinemia, leading to autoantibody production [8].…”

Section: Introductionmentioning

confidence: 99%

Rapidly progressive IgA vasculitis-associated nephritis successfully treated with immunosuppressive therapy in an adolescent with chronic granulomatous disease

et al. 2021

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Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder with genetic defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex in phagocytes, leading to recurrent severe infections and granuloma formation. Genitourinary involvement, including obstructive granulomas, infections, nephrotoxicity of anti-infective agents, and amyloidosis, is frequently observed in patients with CGD, whereas the clinical and pathological details of the less commonly reported glomerular disease remain obscure. Here, we report the case of a patient with CGD who developed rapidly progressive IgA vasculitis-associated nephritis (IgAVN) and review the literature on biopsy-proven glomerular diseases in patients with CGD. A 22-year-old male patient with CGD developed rapidly progressive glomerulonephritis (RPGN) following peripheral purpura and was diagnosed with crescentic IgAVN based on the renal biopsy evaluation. There was no evidence of active infections, and he received pulse intravenous methylprednisolone followed by oral prednisolone. His renal function returned to normal within 4 weeks, and his proteinuria and microhematuria finally resolved. The present case and literature review indicate that IgAVN and IgA nephropathy with RPGN are the most common causes of glomerular disease in patients with CGD. Clinicians should be aware of the possibility of these diseases as causes of RPGN in CGD, because delays in diagnosis and appropriate treatment may affect renal outcomes.

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“…Chronic granulomatous disease is a rare disorder with repeated and life‐threatening bacterial and fungal infections that involves different organs such as lymph nodes, gastrointestinal tract, and lungs 1 . It is accompanied with pneumonia, abscess, and granuloma formation in response to chronic inflammation 2,3 …”

Section: Introductionmentioning

confidence: 99%

Identification of Cytochrome b‐245, beta‐chain gene mutations, and clinical presentations in Iranian patients with X‐linked chronic granulomatous disease

Heydari

Abolnezhadian

Sadeghi‐Shabestari

et al. 2020

Clinical Laboratory Analysis

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Background X‐linked chronic granulomatous disease (X‐CGD) is an immunodeficiency disorder caused by defects in the gp91phox subunit that leads to life‐threatening infections. We aimed to identify CYBB gene mutations and study clinical phenotypes in Iranian patients with probable X‐CGD. Methods We studied four unrelated Iranian patients with probable X‐CGD and their families recruited in several years. We isolated genomic DNA from whole blood and performed Sanger sequencing in the CYBB gene's coding and flanking regions. We also performed pathogenicity predictions using in silico tools. Results We detected four different mutations, including a novel insertion mutation in exon 5 (p.Ile117AsnfsX6), in the patient. Bioinformatics analysis confirmed the pathogenic effect of this mutation. We predicted protein modeling and demonstrated lost functional domains. The patient with the insertion mutation presented pneumonia and acute sinusitis during his life. We also detected three other known nonsense mutations (p.Arg157Ter, p.Arg226Ter, and p.Trp424Ter) in the CYBB gene. The patient with p.Arg157Ter developed lymphadenitis and pneumonia. Moreover, the patient with inflammatory bowel disease showed p.Arg226Ter and the patient with tuberculosis presented p.Trp424Ter. We detected different clinical features in the patients compared to other Iranian patients with the same mutations. Conclusion Our results expand the genetic database of patients with X‐CGD from Iran and make it much easier and faster to identify patients with X‐CGD. Our results also help to detect carriers and enable prenatal diagnosis in high‐risk families as a cost‐effective strategy.

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Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD

Cited by 6 publications

References 24 publications

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

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

Rapidly progressive IgA vasculitis-associated nephritis successfully treated with immunosuppressive therapy in an adolescent with chronic granulomatous disease

Identification of Cytochrome b‐245, beta‐chain gene mutations, and clinical presentations in Iranian patients with X‐linked chronic granulomatous disease

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