Human leukocyte antigens and Gaucher disease

Vairo, Filippo Pinto e; Portela, Pâmela; Salim, Patrícia Hartstein; Jobim, Mariana; Netto, Cristina Brinckmann Oliveira; Dorneles, Alicia; Mittlestadt, Suzana; Jobim, Luiz Fernando Job; Schwartz, Ida Vanessa Döederlein

doi:10.1016/j.bcmd.2012.10.008

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…Using the Gaucher Registry database, Rosenbloom et al [6] found a relative risk of 5.9 [95% CI: 2.8–10.8] for GD patients showing MM. Putative explanation for these observations arises from the hypothesis of chronic stimulation of the immune system by Gaucher cells [8], [9]. In fact, individuals with chronic inflammation are susceptible to develop MM as well as several lymphoproliferative disorders and malignancies [5].…”

Section: Introductionmentioning

confidence: 99%

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

Koppe

Vairo

Camargo

et al. 2015

Molecular Genetics and Metabolism Reports

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β2-Microglobulin is the major prognostic factor in multiple myeloma, a known comorbidity of Gaucher disease. We evaluated herein serum β2-microglobulin levels of 31 type 1 Gaucher patients; for 8/31 patients, pre- and post-treatment comparisons were made. Thirteen patients (on treatment = 6) had high levels of β2-microglobulin, and showed higher chitotriosidase activity and Severity Score Index, and lower concentration of platelets, than patients with normal levels. Levels of β2-microglobulin correlated with chitotriosidase activity (ρ = 0.65; p < 0.01), platelets (ρ = − 0.42; p = 0.02) and α1- (ρ = 0.43; p = 0.02) and α2-protein bands (ρ = − 0.40; p = 0.03). Regarding pre- and post-treatment values, median β2-microglobulin levels decreased after treatment (pre- = 2931 ng/mL; post- = 1970 ng/mL; p < 0.01). Our data suggest that levels of serum β2-microglobulin are frequently elevated in type 1 Gaucher patients, correlate with severity of the disease and decrease after treatment.

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Section: Introductionmentioning

confidence: 99%

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

Koppe

Vairo

Camargo

et al. 2015

Molecular Genetics and Metabolism Reports

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“…The primary function of the HLA system is to regulate the immune response [5] and it has a big role in immunological reactions: about 100 diseases have already been associated with HLA system [6]. More specifically, the HLA complex appears to be important in the clinical expression of insulin dependent diabetes mellitus, Reiter’s syndrome, especially HLA-B27 associated ankylosing spondylitis and HLA-DR4 with rheumatoid arthritis [6,7]. It is also known that silicosis is associated with immunological reactions such as antinuclear antibody, rheumatoid factor, immune complexes, and raised immunoglobulin levels [8].…”

Section: Introductionmentioning

confidence: 99%

The association of human leukocyte antigen polymorphisms with disease severity and latency period in patients with silicosis

Doğan

Akgün

Araz

et al. 2014

Multidiscip Respir Med

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BackgroundDenim sandblasting may cause silicosis as a result of free crystalline silica inhalation. Its pathogenesis remains unclear, but autoimmunity may play a role in the development of silicosis. The present study aimed to investigate the relationships between human leukocyte antigen (HLA) and the severity and latency period of silicosis.Methods48 silicotic patients in the Eastern part of Turkey were classified according to their latency period and disease severity. The distribution of HLAs according to disease severity and latency period was assessed.ResultsA23 (7.5%), B49 (7.5%), and B51 (25%) were more common in the mild group than in the severe group, and B55 (8.9%) and DR4 (17.9%) were more common in the severe group than in the mild one. Only B51 was significantly more common in the mild group than in the severe one (25%, n = 10 vs. 7.1%, n = 4; p = 0.016).ConclusionsThis study suggests that HLA antigens may play a particular role in the severity of silica-induced lung disease, but there was no association between HLA and progression time of the disease.

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“…The Human Leukocyte Antigen (HLA) system is the Major Histocompatibility Complex (MHC) and a very polymorphic region of the genome in humans. The primary function of the HLA system is to regulate the immune response [5] and it has a big role in immunological reactions: about 100 diseases have already been associated with HLA system [6]. More specifically, the HLA complex appears to be important in the clinical expression of insulin dependent diabetes mellitus, Reiter's syndrome, especially HLA-B27 associated ankylosing spondylitis and HLA-DR4 with rheumatoid arthritis [6,7].…”

Section: Introductionmentioning

confidence: 99%

The association of human leukocyte antigen polymorphisms with disease severity and latency period in patients with silicosis

Doğan¹,

Akgün²,

Araz³

et al. 2014

Multidis Res Med

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Background: Denim sandblasting may cause silicosis as a result of free crystalline silica inhalation. Its pathogenesis remains unclear, but autoimmunity may play a role in the development of silicosis. The present study aimed to investigate the relationships between human leukocyte antigen (HLA) and the severity and latency period of silicosis. Methods: 48 silicotic patients in the Eastern part of Turkey were classified according to their latency period and disease severity. The distribution of HLAs according to disease severity and latency period was assessed. Results: A23 (7.5%), B49 (7.5%), and B51 (25%) were more common in the mild group than in the severe group, and B55 (8.9%) and DR4 (17.9%) were more common in the severe group than in the mild one. Only B51 was significantly more common in the mild group than in the severe one (25%, n = 10 vs. 7.1%, n = 4; p = 0.016). Conclusions: This study suggests that HLA antigens may play a particular role in the severity of silica-induced lung disease, but there was no association between HLA and progression time of the disease.

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Human leukocyte antigens and Gaucher disease

Cited by 4 publications

References 34 publications

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

The association of human leukocyte antigen polymorphisms with disease severity and latency period in patients with silicosis

The association of human leukocyte antigen polymorphisms with disease severity and latency period in patients with silicosis

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