MCID: PDT035
MIFTS: 46

Pediatric Systemic Lupus Erythematosus

Categories: Bone diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pediatric Systemic Lupus Erythematosus

MalaCards integrated aliases for Pediatric Systemic Lupus Erythematosus:

Name: Pediatric Systemic Lupus Erythematosus 58
Sle, Pediatric Onset 58

Characteristics:

Orphanet epidemiological data:

58
pediatric systemic lupus erythematosus
Prevalence: 1-9/1000000 (Australia);

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Pediatric Systemic Lupus Erythematosus

MalaCards based summary : Pediatric Systemic Lupus Erythematosus, also known as sle, pediatric onset, is related to hemolytic uremic syndrome, atypical 1 and lupus erythematosus. An important gene associated with Pediatric Systemic Lupus Erythematosus is C1QA (Complement C1q A Chain), and among its related pathways/superpathways are Innate Immune System and PI3K-Akt signaling pathway. The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and skin, and related phenotypes are elevated erythrocyte sedimentation rate and decreased serum complement c3

Related Diseases for Pediatric Systemic Lupus Erythematosus

Diseases related to Pediatric Systemic Lupus Erythematosus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 hemolytic uremic syndrome, atypical 1 29.6 C4B C4A C3 C1R
2 lupus erythematosus 29.5 STAT4 MX1 HMGB1 C4B C4A C3
3 neuromyelitis optica 29.3 TNFSF13B SPP1 C3
4 glomerulonephritis 29.0 SPP1 C4B C4A C3 C1QA
5 autoimmune disease 29.0 TNFSF13B STAT4 SPP1 KLRK1 C3
6 systemic lupus erythematosus 27.1 TNFSF13B STAT4 SPP1 MX1 IRAK1 HMGB1
7 exanthem 10.4
8 juvenile dermatitis herpetiformis 10.4 C4B C4A
9 anca-associated vasculitis 10.3 HMGB1 C3
10 thrombocytopenia 10.3
11 purpura 10.3
12 hemolytic anemia 10.3
13 louse-borne relapsing fever 10.3 C4B C4A C3
14 relapsing fever 10.3 C4B C4A C3
15 tick-borne relapsing fever 10.3 C4B C4A C3
16 pericarditis 10.2
17 juvenile rheumatoid arthritis 10.2
18 hypersensitivity reaction type iii disease 10.2 C4B C4A C3
19 antiphospholipid syndrome 10.2
20 vasculitis 10.2
21 chorea, childhood-onset, with psychomotor retardation 10.1
22 choreatic disease 10.1
23 rheumatic disease 10.1
24 acute pancreatitis 10.1
25 central nervous system disease 10.1
26 peripheral nervous system disease 10.1
27 end stage renal failure 10.1
28 myocarditis 10.1
29 nervous system disease 10.1
30 neuropathy 10.1
31 avascular necrosis 10.1
32 systemic lupus erythematosus 16 10.1 C4A C1QA
33 blood protein disease 10.1 MYC C4B C4A
34 ovary adenocarcinoma 10.1 MYC MIR17 MDM2
35 atherosclerosis susceptibility 10.0
36 thrombocytopenic purpura, autoimmune 10.0
37 thrombophilia due to thrombin defect 10.0
38 acrocallosal syndrome 10.0
39 anemia, autoimmune hemolytic 10.0
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
41 c1q deficiency 10.0
42 rickets 10.0
43 hemopericardium 10.0
44 cardiac tamponade 10.0
45 pericardial effusion 10.0
46 nephrotic syndrome 10.0
47 optic neuritis 10.0
48 aseptic meningitis 10.0
49 neutropenia 10.0
50 papilledema 10.0

Graphical network of the top 20 diseases related to Pediatric Systemic Lupus Erythematosus:



Diseases related to Pediatric Systemic Lupus Erythematosus

Symptoms & Phenotypes for Pediatric Systemic Lupus Erythematosus

Human phenotypes related to Pediatric Systemic Lupus Erythematosus:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
2 decreased serum complement c3 58 31 hallmark (90%) Very frequent (99-80%) HP:0005421
3 decreased serum complement c4 58 31 hallmark (90%) Very frequent (99-80%) HP:0045042
4 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
5 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
6 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
7 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
8 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
9 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
10 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
11 increased lactate dehydrogenase activity 58 31 frequent (33%) Frequent (79-30%) HP:0025435
12 abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0011024
13 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
14 pleural effusion 58 31 frequent (33%) Frequent (79-30%) HP:0002202
15 pericardial effusion 58 31 frequent (33%) Frequent (79-30%) HP:0001698
16 microangiopathic hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001937
17 antinuclear antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0003493
18 nephritis 58 31 frequent (33%) Frequent (79-30%) HP:0000123
19 antiphospholipid antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0003613
20 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
21 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
22 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
23 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
24 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
25 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
26 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
27 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
28 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
29 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
30 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
31 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
32 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
33 oral ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0000155
34 systemic lupus erythematosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002725
35 malar rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0025300
36 lupus anticoagulant 58 31 occasional (7.5%) Occasional (29-5%) HP:0025343
37 discoid lupus rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0007417
38 dark urine 58 31 occasional (7.5%) Occasional (29-5%) HP:0040319
39 alopecia 58 31 very rare (1%) Very rare (<4-1%) HP:0001596
40 cognitive impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0100543
41 myositis 58 31 very rare (1%) Very rare (<4-1%) HP:0100614
42 chest pain 58 31 very rare (1%) Very rare (<4-1%) HP:0100749
43 diarrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0002014
44 language impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002463
45 raynaud phenomenon 58 31 very rare (1%) Very rare (<4-1%) HP:0030880
46 antineutrophil antibody positivity 58 31 very rare (1%) Very rare (<4-1%) HP:0003453
47 abnormality of the nervous system 58 Occasional (29-5%)
48 edema 58 Frequent (79-30%)
49 skin rash 58 Frequent (79-30%)
50 abnormality of the urinary system 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Pediatric Systemic Lupus Erythematosus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 ADIPOQ C3 C4B E2F1 IRAK1 MDM2
2 immune system MP:0005387 9.93 ADIPOQ C1QA C3 C4B E2F1 IRAK1
3 muscle MP:0005369 9.5 ADIPOQ C3 E2F1 IRAK1 MDM2 MYC
4 renal/urinary system MP:0005367 9.17 ADIPOQ C1QA C3 C4B MDM2 SPP1

Drugs & Therapeutics for Pediatric Systemic Lupus Erythematosus

Drugs for Pediatric Systemic Lupus Erythematosus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
4
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Nutrients Phase 2
8 Ergocalciferols Phase 2
9 Vitamins Phase 2
10 Calciferol Phase 2
11 Calcium, Dietary Phase 2
12 Vitamin D2 Phase 2
13 Interferon-alpha Phase 2
14 Hormones Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D3 Effects on Immune Function in Pediatric Systemic Lupus Erythematosus (SLE) Terminated NCT01709474 Phase 2 Vitamin D3 6000 IU;Vitamin D3 400 IU
2 Health-related Quality of Life Measure in Pediatric Lupus Completed NCT00280137
3 Bone Mineral Density of Children and Adolescents With Systemic Lupus Erythematosus Active, not recruiting NCT00582465

Search NIH Clinical Center for Pediatric Systemic Lupus Erythematosus

Genetic Tests for Pediatric Systemic Lupus Erythematosus

Anatomical Context for Pediatric Systemic Lupus Erythematosus

MalaCards organs/tissues related to Pediatric Systemic Lupus Erythematosus:

40
Bone, T Cells, Skin, B Cells, Heart, Ovary, Neutrophil

Publications for Pediatric Systemic Lupus Erythematosus

Articles related to Pediatric Systemic Lupus Erythematosus:

(show top 50) (show all 161)
# Title Authors PMID Year
1
PTPN22 Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus. 61
31232672 2020
2
Lupus Mesenteric Vasculitis: A Rare Initial Presentation of Pediatric Systemic Lupus Erythematosus. 61
32028306 2020
3
Pediatric systemic lupus erythematosus patients in South Africa have high prevalence and severity of cardiac and vascular manifestations. 61
31771606 2019
4
The behavior of neutrophil extracellular traps and NADPH oxidative activity in pediatric systemic lupus erythematosus: relation to disease activity and lupus nephritis. 61
31030361 2019
5
Validation of the 2017 Weighted criteria compared to the 1997 ACR and the 2012 SLICC in Pediatric Systemic Lupus Erythematosus. 61
31478595 2019
6
Rituximab-associated Hypogammaglobulinemia in pediatric patients with autoimmune diseases. 61
31462263 2019
7
Diagnostic value of serum high-mobility group box-1 in pediatric systemic lupus erythematosus. 61
30938057 2019
8
Acute pancreatitis and macrophage activation syndrome in pediatric systemic lupus erythematosus: case-based review. 61
31377830 2019
9
Clinical manifestations, immunological features and prognosis of Chinese pediatric systemic lupus erythematosus: A single-center study. 61
30957986 2019
10
A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report. 61
31045771 2019
11
Unique Characteristics of Prepubertal Onset Systemic Lupus Erythematosus. 61
31263503 2019
12
Incidence and risk factors of osteomyelitis in adult and pediatric systemic lupus erythematosus: a nationwide, population-based cohort study. 61
30458691 2019
13
The role of 5-methoxytryptophan in pediatric-onset lupus nephritis: A retrospective cohort study. 61
30630711 2018
14
Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus. 61
29739689 2018
15
Pediatric systemic lupus erythematosus. Retrospective analysis of clinico-laboratory parameters and their association with systemic lupus erythematosus disease activity index score. 61
30284593 2018
16
Pediatric systemic lupus erythematosus. Retrospective analysis of clinico-laboratory parameters and their association with Systemic Lupus Erythematosus Disease Activity Index score. 61
29915860 2018
17
Serum IP-10 is useful for identifying renal and overall disease activity in pediatric systemic lupus erythematosus. 61
29264699 2018
18
DNA induction of MDM2 promotes proliferation of human renal mesangial cells and alters peripheral B cells subsets in pediatric systemic lupus erythematosus. 61
29324237 2018
19
Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood. 61
29868531 2018
20
Insights Gained From the Study of Pediatric Systemic Lupus Erythematosus. 61
29922296 2018
21
Unraveling the expression of microRNA-27a* & NKG2D in peripheral blood mononuclear cells and natural killer cells of pediatric systemic lupus erythematosus patients. 61
28523761 2017
22
Carotid intima-media thickness and arterial stiffness in pediatric systemic lupus erythematosus. 61
28420050 2017
23
Efficacy and Safety of Rituximab in the Management of Pediatric Systemic Lupus Erythematosus: A Systematic Review. 61
28602379 2017
24
Reduction of CD19 autoimmunity marker on B cells of paediatric SLE patients through repressing PU.1/TNF-α/BAFF axis pathway by miR-155. 61
28683581 2017
25
Lenalidomide for refractory cutaneous manifestations of pediatric systemic lupus erythematosus. 61
27837194 2017
26
Clinical characteristics of children with membranous lupus nephritis: the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. 61
27510603 2017
27
Severe disease presentation and poor outcomes among pediatric systemic lupus erythematosus patients in South Africa. 61
27488473 2017
28
An Update on Treatment and Management of Pediatric Systemic Lupus Erythematosus. 61
27747587 2016
29
Targeted B cell therapies in the treatment of adult and pediatric systemic lupus erythematosus. 61
27497253 2016
30
Acute pancreatitis as a cause of mortality in pediatric systemic lupus erythematosus: Results of a multiple cause-of-death analysis in France. 61
27079760 2016
31
Alcohol, smoking and illicit drug use in pediatric systemic lupus erythematosus patients. 61
27267641 2016
32
Comorbidities of pediatric systemic lupus erythematosus: A 6-year nationwide population-based study. 61
25066707 2016
33
Idiopathic Thrombocytopenic Purpura Masquerading Pediatric Systemic Lupus Erythematosus. 61
27057049 2016
34
Interleukin-17A rs2275913, Interleukin-17F rs763780 and rs2397084 gene polymorphisms as possible risk factors in Juvenile lupus and lupus related nephritis. 61
26515887 2016
35
Incidence and prognosis of systemic lupus erythematosus in a 35 year period in Fukushima, Japan. 61
25615939 2015
36
Pediatric systemic lupus erythematosus presenting with coronary arteritis: A case series and review of the literature. 61
25840624 2015
37
Autoantigen microarrays reveal autoantibodies associated with proliferative nephritis and active disease in pediatric systemic lupus erythematosus. 61
26081107 2015
38
Targeting E2F1 and c-Myc expression by microRNA-17-5p represses interferon-stimulated gene MxA in peripheral blood mononuclear cells of pediatric systemic lupus erythematosus patients. 61
26175399 2015
39
Cytomegalovirus in pediatric systemic lupus erythematosus: prevalence and clinical manifestations. 61
25568145 2015
40
Practice patterns and approach to kidney biopsy in lupus: a collaboration of the Midwest Pediatric Nephrology Consortium and the Childhood Arthritis and Rheumatology Research Alliance. 61
26087651 2015
41
Avascular necrosis in pediatric systemic lupus erythematosus: a brief report and review of the literature. 61
25902709 2015
42
Pediatric systemic lupus erythematosus in a single nephrology unit. 61
25758881 2015
43
Increased activation of toll-like receptors-7 and -8 of peripheral blood mononuclear cells and upregulated serum cytokines in patients with pediatric systemic lupus erythematosus. 61
26884963 2015
44
High titer anti-basement membrane antibodies in a subset of patients with pediatric systemic lupus erythematosus. 61
25926050 2015
45
Shrinking lung syndrome complicating pediatric systemic lupus erythematosus. 61
24756252 2014
46
Antiphospholipid antibodies in children with systemic lupus erythematosus: a long-term clinical and laboratory follow-up status study from northwest India. 61
23563494 2014
47
National trends in pediatric systemic lupus erythematosus hospitalization in the United States: 2000-2009. 61
24488419 2014
48
Blood gene expression profiling in pediatric systemic lupus erythematosus and systemic juvenile idiopathic arthritis: from bench to bedside. 61
24839407 2014
49
Hypogammaglobulinemia in pediatric systemic lupus erythematosus. 61
24106215 2013
50
Using registries to identify adverse events in rheumatic diseases. 61
24144710 2013

Variations for Pediatric Systemic Lupus Erythematosus

Expression for Pediatric Systemic Lupus Erythematosus

Search GEO for disease gene expression data for Pediatric Systemic Lupus Erythematosus.

Pathways for Pediatric Systemic Lupus Erythematosus

Pathways related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TNFSF13B PIK3CD MYC MX1 MDM2 KLRK1
2
Show member pathways
12.89 SPP1 PIK3CD MYC MX1 MDM2 E2F1
3
Show member pathways
12.81 PIK3CD MYC MDM2 IRAK1 E2F1 C3
4 12.72 STAT4 PIK3CD MYC MDM2 E2F1
5
Show member pathways
12.69 PIK3CD MYC MX1 MDM2 IRAK1 E2F1
6
Show member pathways
12.54 STAT4 SPP1 PIK3CD MYC MX1 IRAK1
7 12.4 PIK3CD MYC MIR27A MIR17 MDM2 E2F1
8
Show member pathways
12.26 MYC MIR17 MDM2 E2F1
9
Show member pathways
12.1 PIK3CD MYC MDM2 E2F1
10 12.05 PIK3CD MYC MDM2 E2F1
11
Show member pathways
11.96 C4B C4A C3 C1R C1QA
12 11.93 C4B C4A C3 C1R C1QA
13 11.89 PIK3CD MYC MDM2 HMGB1
14
Show member pathways
11.85 C4B C4A C3 C1R C1QA
15 11.84 MYC MDM2 E2F1
16 11.74 PIK3CD MYC E2F1
17 11.72 MYC MDM2 HMGB1 E2F1
18
Show member pathways
11.68 C4B C4A C3 C1R C1QA
19 11.62 MYC MDM2 E2F1
20 11.54 C4B C4A C3 C1R C1QA
21 11.44 MYC MIR27A E2F1
22 11.4 MYC MDM2 E2F1
23 11.01 MYC MDM2 E2F1
24 10.98 IRAK1 C4B C4A C3 C1R C1QA

GO Terms for Pediatric Systemic Lupus Erythematosus

Cellular components related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 TNFSF13B SPP1 HMGB1 C4B C4A C3
2 extracellular space GO:0005615 9.32 TNFSF13B SPP1 MIR27A MIR17 HMGB1 C4B
3 blood microparticle GO:0072562 9.26 C4B C4A C3 C1R

Biological processes related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 TNFSF13B STAT4 SPP1 PIK3CD MX1 KLRK1
2 positive regulation of transcription, DNA-templated GO:0045893 9.98 SPP1 MYC MIR27A IRAK1 E2F1
3 inflammatory response GO:0006954 9.91 SPP1 PIK3CD HMGB1 C4B C4A C3
4 cytokine-mediated signaling pathway GO:0019221 9.87 STAT4 PIK3CD MYC IRAK1
5 negative regulation of gene expression GO:0010629 9.86 PIK3CD MIR27A MIR17 MDM2
6 cellular response to lipopolysaccharide GO:0071222 9.84 MIR17 KLRK1 IRAK1 HMGB1
7 complement activation, classical pathway GO:0006958 9.8 C4B C4A C3 C1R C1QA
8 cellular response to hypoxia GO:0071456 9.77 MYC MIR17 MDM2 IRAK1 E2F1
9 regulation of complement activation GO:0030449 9.72 C4B C4A C3 C1R C1QA
10 positive regulation of fibroblast proliferation GO:0048146 9.7 MYC MIR17 E2F1
11 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.69 MIR27A MIR17 MDM2
12 immune system process GO:0002376 9.65 TNFSF13B PIK3CD MX1 KLRK1 IRAK1 HMGB1
13 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.58 MIR27A MIR17
14 neuron remodeling GO:0016322 9.55 C3 C1QA
15 complement activation GO:0006956 9.55 C4B C4A C3 C1R C1QA
16 complement-mediated synapse pruning GO:0150062 9.48 C3 C1QA
17 vertebrate eye-specific patterning GO:0150064 9.46 C3 C1QA
18 positive regulation of apoptotic cell clearance GO:2000427 9.43 C4B C4A C3
19 innate immune response GO:0045087 9.32 PIK3CD MX1 KLRK1 IRAK1 HMGB1 C4B

Molecular functions related to Pediatric Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 TNFSF13B STAT4 SPP1 PIK3CD MYC MX1
2 cytokine activity GO:0005125 9.26 TNFSF13B SPP1 HMGB1 ADIPOQ
3 endopeptidase inhibitor activity GO:0004866 8.8 C4B C4A C3

Sources for Pediatric Systemic Lupus Erythematosus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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