MCID: CRY004
MIFTS: 50

Cryoglobulinemia

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Cryoglobulinemia

Summaries for Cryoglobulinemia

NIH Rare Diseases : 54 Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called "cryoglobulins." At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis; joint or muscle pain; purpura; Raynaud's phenomenon; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.

MalaCards based summary : Cryoglobulinemia, also known as cryoimmunoglobulinaemia, is related to cryoglobulinemia, familial mixed and hepatitis c virus. An important gene associated with Cryoglobulinemia is IFNA2 (Interferon Alpha 2), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs rituximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include b cells, liver and skin, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.

Wikipedia : 77 Cryoglobulinemia is a medical condition in which the blood contains large amounts of pathological cold... more...

Related Diseases for Cryoglobulinemia

Diseases related to Cryoglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 cryoglobulinemia, familial mixed 33.8 CD40LG CD5 IFNA2 TSLP
2 hepatitis c virus 31.8 CD81 GPT IFNL3
3 hepatitis 31.4 CD81 GPT IFNA2
4 vasculitis 31.2 CD40LG IFNA2 TNFSF13B
5 hepatitis c 31.1 CD81 CXCL10 GPT IFNA2
6 macroglobulinemia 30.4 CD27 CD40LG TNFSF13B
7 cryofibrinogenemia 30.3 CD40LG CD79A
8 myeloma, multiple 30.3 CD27 CD79A TNFSF13B
9 proliferative glomerulonephritis 30.2 CD79A CXCL10
10 marginal zone b-cell lymphoma 29.9 CD40LG CD5 CD79A
11 systemic lupus erythematosus 29.8 CD40LG CD79A CR2 CXCL10 TNFSF13B
12 mycosis fungoides 29.8 CXCL10 CXCL11 IFNA2
13 anemia, autoimmune hemolytic 29.7 CD40LG CD5
14 hepatitis e 29.7 CD40LG GPT
15 leukemia, chronic lymphocytic 29.5 CD27 CD40LG CD5 CR2 TNFSF13B
16 lymphoma, non-hodgkin, familial 29.2 CD27 CD5 CD79A CR2 TNFSF13B
17 simple cryoglobulinemia 12.3
18 type ii mixed cryoglobulinemia 12.2
19 mixed cryoglobulinemia type iii 12.2
20 glomerulopathy with fibronectin deposits 2 11.1
21 glomerulonephritis 10.5
22 lymphoma 10.5
23 endotheliitis 10.4 CXCL10 CXCL11
24 acrodermatitis chronica atrophicans 10.4 CD40LG CXCL10
25 immunodeficiency with hyper-igm, type 4 10.4 CD40LG TNFSF13B
26 apple allergy 10.4 CXCL10 CXCL11
27 neuropathy 10.3
28 membranoproliferative glomerulonephritis 10.3
29 purpura 10.3
30 ascaris lumbricoides infection 10.3 TNFSF13B TSLP
31 hepatitis b 10.3
32 c1q nephropathy 10.3 CD40LG CD79A
33 immunoglobulin g deficiency 10.3 CD40LG CD79A
34 heparin-induced thrombocytopenia 10.3 CD40LG CD79A
35 immunoglobulin a deficiency 1 10.3 CD40LG CD79A
36 sporotrichosis 10.3 CD40LG CD79A
37 congenital syphilis 10.3 CD40LG CD79A
38 syphilis 10.3 CD40LG CD79A
39 secondary syphilis 10.3 CD40LG CD79A
40 chronic graft versus host disease 10.3 CD79A TNFSF13B
41 peripheral nervous system disease 10.3
42 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3 CD40LG CD79A
43 ocular toxoplasmosis 10.3 CD40LG CD79A
44 opsoclonus-myoclonus syndrome 10.3 CXCL10 CXCL11 TNFSF13B
45 persistent generalized lymphadenopathy 10.3 CD40LG CD79A
46 night blindness, congenital stationary, type 1a 10.3 CXCL10 CXCL11
47 immunodeficiency with hyper-igm, type 1 10.2 CD40LG CD79A
48 leukemia 10.2
49 liver disease 10.2
50 immunodeficiency with hyper-igm, type 2 10.2 CD40LG CXCL10 TNFSF13B

Graphical network of the top 20 diseases related to Cryoglobulinemia:



Diseases related to Cryoglobulinemia

Symptoms & Phenotypes for Cryoglobulinemia

MGI Mouse Phenotypes related to Cryoglobulinemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD27 CD40LG CD5 CD79A CD81 CR2
2 immune system MP:0005387 9.32 CD27 CD40LG CD5 CD79A CD81 CR2

Drugs & Therapeutics for Cryoglobulinemia

Drugs for Cryoglobulinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
2 Antineoplastic Agents, Immunological Phase 4,Phase 2,Phase 3
3 Immunologic Factors Phase 4,Phase 2,Phase 3
4 Antirheumatic Agents Phase 4,Phase 2,Phase 3
5
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
6
Ledipasvir Approved Phase 2, Phase 3 1256388-51-8 67505836
7 Antiviral Agents Phase 2, Phase 3,Phase 1
8 Anti-Infective Agents Phase 2, Phase 3,Phase 1
9 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3
10
Aldesleukin Approved Phase 1, Phase 2,Phase 2 110942-02-4, 85898-30-2
11
belimumab Approved Phase 2 356547-88-1 5957 10451420
12
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
13
Lactitol Investigational Phase 1, Phase 2 585-88-6, 585-86-4 493591
14 Analgesics Phase 1, Phase 2
15 Analgesics, Non-Narcotic Phase 1, Phase 2
16
s 1 (combination) Phase 1, Phase 2
17 Peripheral Nervous System Agents Phase 1, Phase 2
18 Interleukin-2 Phase 1, Phase 2
19 Anti-Retroviral Agents Phase 1, Phase 2
20 Anti-HIV Agents Phase 1, Phase 2
21 Antibodies Phase 2
22 Immunosuppressive Agents Phase 2
23 Immunoglobulins Phase 2
24 Antibodies, Monoclonal Phase 2
25 Antineoplastic Agents, Hormonal Phase 2
26 Hormones Phase 2
27 Hormone Antagonists Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
29 glucocorticoids Phase 2
30 Anti-Inflammatory Agents Phase 2
31
Ribavirin Approved 36791-04-5 37542
32 Liver Extracts
33 interferons

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Study of the Influence of Plasma Exchange on the Pharmacokinetics of Rituximab Completed NCT00820469 Phase 4 Rituximab 375;rituximab 1000
2 Tolerance and Efficacy of Rituximab in Sjogren's Disease Completed NCT00740948 Phase 2, Phase 3 Rituximab (mabthera) Injection;Placebo: NaCl 0.9% or Glucose 5%
3 Efficacy of All-Oral Anti-Viral Therapy for Symptomatic Hepatitis C Virus Infection-Related Cryoglobulinemia Recruiting NCT02825212 Phase 2, Phase 3 Harvoni
4 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2 Interleukin-2
5 Evaluation of Clinical Efficacy and Immunologic Response After IL-2 Therapy in HCV-related Vasculitis Patients Completed NCT00574652 Phase 1, Phase 2 Proleukin
6 Efficacy and Safety of Belimumab in Subjects With Primary Sjögren's Syndrome Completed NCT01160666 Phase 2 Belimumab
7 Perifosine in Patients With Relapsed/Refractory Waldenstrom's Macroglobulinemia Completed NCT00422656 Phase 2 Perifosine
8 Rituximab to Treat Hepatitis C-Associated Cryoglobulinemic Vasculitis Completed NCT00029107 Phase 2 Rituximab
9 Rituximab Plus Corticosteroids in Non-infectious Active Mixed Cryoglobulinemia Vasculitis Terminated NCT02556866 Phase 2 rituximab;Prednisone;Placebo
10 Direct Antiviral Agents for Hepatitis C Virus-associated Cryoglobulinaemia Vasculitis Unknown status NCT02856243 new antiviral therapy
11 Treatment of Hypertensive Leg Ulcer by Adipose Tissue Grafting Unknown status NCT01932021 Not Applicable
12 Benefit of DAA Therapy in HCV Monoinfected and HIV-HCV Coinfected Patients With Mixed Cryoglobulinemia Completed NCT03342261 DAA treatment
13 Characterization of Clonal B Cell Populations in HCV Infection Completed NCT00435201
14 The RITAI Cohort: An Observational Study on Rituximab Off-label Use for Auto-immune Disorders Completed NCT00960713 Rituximab (MABTHERA® or RITUXAN®).
15 Hepatitis C Virus and the Humoral Immune System Completed NCT00219999
16 Observational Study of the Use of Pegloticase (KRYSTEXXA®) in Refractory Chronic Gout Completed NCT01466166
17 Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
18 Impact of Vasculitis on Employment and Income Completed NCT02476292
19 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
20 Long-term Outcomes of Chronic Hepatitis C Patients Post Sofosbuvir-based Treatment Recruiting NCT03042520
21 Study to Determine the Hepatitis C Virus Infection Prevalence Among Patients Attended Primarily for Vasculitis Recruiting NCT03693586
22 Detection of Recurrent Mutations in Waldenström's Disease Recruiting NCT03952052 Not Applicable
23 Registry for Adults With Plasma Cell Disorders (PCD's) Recruiting NCT03717844
24 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
25 Vasculitis Pregnancy Registry Recruiting NCT02593565
26 Pathology of Hepatitis c Nephropathy Not yet recruiting NCT03476031
27 Effects of Direct Antiviral Agents on Hepatitis C Virus Arthropathy Not yet recruiting NCT03226717 Antiviral agents

Search NIH Clinical Center for Cryoglobulinemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: cryoglobulinemia

Genetic Tests for Cryoglobulinemia

Anatomical Context for Cryoglobulinemia

MalaCards organs/tissues related to Cryoglobulinemia:

42
B Cells, Liver, Skin, Kidney, Thyroid, Bone, Lung

Publications for Cryoglobulinemia

Articles related to Cryoglobulinemia:

(show top 50) (show all 1225)
# Title Authors Year
1
Long-term Efficacy of Interferon-Free Antiviral Treatment Regimens in Patients With Hepatitis C Virus-Associated Cryoglobulinemia Vasculitis. ( 29857143 )
2019
2
Clinical practice: hepatitis C virus infection, cryoglobulinemia and cryoglobulinemic vasculitis. ( 30430284 )
2019
3
The complexity of an overlap type resistant cryoglobulinemia: a case report and review of the literature. ( 30628015 )
2019
4
Cryoglobulinemia as a Possible Primer for TRALI: Report of a Case. ( 30657960 )
2019
5
Neurologic manifestations associated with cryoglobulinemia: A single center experience. ( 30708209 )
2019
6
Cryoglobulinemia: An update in 2019. ( 30731128 )
2019
7
Extensive cutaneous necrosis in monoclonal cryoglobulinemia: an example of monoclonal gammopathy of cutaneous significance. ( 30793799 )
2019
8
Woman with Fatigue, Peripheral Neuropathy, Lower Extremity Edema, and Palpable Purpura: Type II Cryoglobulinemia. ( 30904513 )
2019
9
Effectiveness of cryofiltration and mizoribine combination with oral steroid therapy in a patient with membranoproliferative glomerulonephritis due to essential cryoglobulinemia. ( 30927247 )
2019
10
The dilemma of treating hepatitis C virus-associated cryoglobulinemia. ( 31090590 )
2019
11
MACULAR PERIVENOUS RETINAL WHITENING AND PRESUMED RETINO-CILIARY SPARING IN A RECURRENT CENTRAL RETINAL VEIN OCCLUSION ASSOCIATED WITH THE ANTIPHOSPHOLIPID SYNDROME AND CRYOGLOBULINEMIA. ( 27902540 )
2018
12
Role of ribavirin in the treatment of hepatitis C virus-associated mixed cryoglobulinemia with interferon-free regimens. ( 29318374 )
2018
13
Genetic and clinical data predict onset of cryoglobulinemia in HCV patients and cryoglobulins clearance. ( 29371057 )
2018
14
Interstitial granulomatous dermatitis in a patient with chronic hepatitis C and mixed cryoglobulinemia. ( 29469770 )
2018
15
Improvement of Proteinuria due to Combination Therapy with Daclatasvir and Asunaprevir in Hepatitis C Virus-associated Renal Disease without Cryoglobulinemia. ( 29526955 )
2018
16
A Rare Case of Eosinophilic Granulomatosis with Polyangiitis Associated with Cryoglobulinemia Presenting with a Bullous Skin Eruption of the Lower Limbs. ( 29560002 )
2018
17
Through the Lens: Cryoglobulinemia. ( 29644207 )
2018
18
Different biochemical patterns in type II and type III mixed cryoglobulinemia in HCV positive patients. ( 29709461 )
2018
19
Association between cryoglobulinemia and liver fibrosis in chronic hepatitis C patients. ( 29737561 )
2018
20
Survival and Prognostic Factors in Mixed Cryoglobulinemia: Data from 246 Cases. ( 29751499 )
2018
21
Hepatitis E virus-associated cryoglobulinemia in solid-organ-transplant recipients. ( 29845733 )
2018
22
Retreatment of symptomatic hepatitis C virus genotype 3 associated mixed cryoglobulinemia with sofosbuvir and ribavirin: a case report. ( 29904727 )
2018
23
The Complement System and C1q in Chronic Hepatitis C Virus Infection and Mixed Cryoglobulinemia. ( 29910796 )
2018
24
HCV-negative mixed cryoglobulinemia and kidney involvement: in-depth review on physiopathological and histological bases. ( 29956004 )
2018
25
Persistent mixed cryoglobulinemia after successful antiviral treatment of chronic hepatitis C virus infection: What's the next? ( 29966445 )
2018
26
Sofosbuvir-daclatasvir improves hepatitis C virus-induced mixed cryoglobulinemia: Upper Egypt experience. ( 29983581 )
2018
27
Successful renal transplantation to a recipient with type II cryoglobulinemia: a case report. ( 29986657 )
2018
28
Hepatitis C mixed cryoglobulinemia with undetectable viral load: A case series. ( 30128338 )
2018
29
Are direct-acting antivirals safe and effective in hepatitis C virus-cryoglobulinemia? virological, immunological, and clinical data from a real-life experience. ( 30138160 )
2018
30
Bartonella Infectious Endocarditis Associated With Cryoglobulinemia and Multifocal Proliferative Glomerulonephritis. ( 30151411 )
2018
31
Correlation of CCR5 and NLRP3 gene polymorphisms with renal damage due to hepatitis C virus-related cryoglobulinemia. ( 30214525 )
2018
32
A multiple myeloma that progressed as type I cryoglobulinemia with skin ulcers and foot necrosis: A case report. ( 30278513 )
2018
33
IgG cryoglobulinemia. ( 30280791 )
2018
34
Incidence and Characteristics of de novo Renal Cryoglobulinemia After Direct-Acting Antivirals Treatment in an Egyptian Hepatitis C Cohort. ( 30359992 )
2018
35
Interleukin-17A and B-cell activating factor in chronic hepatitis C patients with or without asymptomatic mixed cryoglobulinemia: effects of antiviral treatment and correlations with vitamin D. ( 30386121 )
2018
36
Sofosbuvir and Daclatsvir in Treatment of Hepatitis C Virus-related Membranoproliferative Glomerulonephritis With Cryoglobulinemia in a Patient With Hepatitis C Genotype 4. ( 30595569 )
2018
37
HCV-associated mixed cryoglobulinemia and b-cell non-Hodgkin's lymphoma - pathogenetically related problems. ( 30701914 )
2018
38
A systemic lupus erythematosus patient presenting as type B insulin resistance complicated with cryoglobulinemia. ( 27416845 )
2017
39
Type I cryoglobulinemia. ( 27450176 )
2017
40
Decline of cellular activation in non-B cells after rituximab treatment in hepatitis C-associated mixed cryoglobulinemia vasculitis. ( 27666584 )
2017
41
Cold-associated painful purple digits due to type I cryoglobulinemia. ( 27681488 )
2017
42
Micro and nanoparticles as possible pathogenetic co-factors in mixed cryoglobulinemia. ( 27694373 )
2017
43
Virologic, Clinical, and Immune Response Outcomes of Patients With Hepatitis C Virus-Associated Cryoglobulinemia Treated With Direct-Acting Antivirals. ( 27725289 )
2017
44
HCV-associated cryoglobulinemia vasculitis: are its days numbered? ( 27797754 )
2017
45
How I treat cryoglobulinemia. ( 27799164 )
2017
46
Successful ledipasvir + sofosbuvir treatment of active synovitis in a rheumatoid arthritis patient with hepatitis C virus-related mixed cryoglobulinemia. ( 27848256 )
2017
47
Cryoglobulin Test and Cryoglobulinemia Hepatitis C-Virus Related. ( 28101312 )
2017
48
Diagnosis and management of cryoglobulinemia. ( 28104678 )
2017
49
Efficacy and safety of long-term treatment with low-dose rituximab for relapsing mixed cryoglobulinemia vasculitis. ( 28111716 )
2017
50
Resolution of Q Fever-Associated Cryoglobulinemia With Anti-CD20 Monoclonal Antibody Treatment. ( 28203574 )
2017

Variations for Cryoglobulinemia

Expression for Cryoglobulinemia

Search GEO for disease gene expression data for Cryoglobulinemia.

Pathways for Cryoglobulinemia

Pathways related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 CD27 CD40LG CD79A CD81 CXCL10 IFNA2
2
Show member pathways
13.1 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
3
Show member pathways
12.99 CD27 CD40LG CXCL10 CXCL11 TNFSF13B
4
Show member pathways
12.91 CD27 CD40LG CXCL10 IFNA2 IFNL3 TNFSF13B
5 12.07 CD40LG CD79A CXCL10 TNFSF13B
6 11.61 CD5 CD79A IFNA2
7 11.08 CD40LG CD79A
8 11.06 CXCL10 IFNA2
9 11.01 CXCL10 CXCL11
10 10.91 CD27 TNFSF13B
11
Show member pathways
10.77 IFNA2 IFNL3
12 10.66 CD40LG CXCL10 CXCL11 TNFSF13B
13 10.65 CD27 CD40LG CD5 CR2
14 10.49 CD40LG CXCL10 CXCL11 TNFSF13B

GO Terms for Cryoglobulinemia

Cellular components related to Cryoglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 CD27 CD40LG CXCL10 CXCL11 IFNA2 IFNL3
2 extracellular space GO:0005615 9.56 CD40LG CXCL10 CXCL11 GPT IFNA2 IFNL3
3 external side of plasma membrane GO:0009897 9.02 CD27 CD40LG CD5 CD79A CXCL10

Biological processes related to Cryoglobulinemia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.86 CD81 CXCL10 TNFSF13B TSLP
2 immune response GO:0006955 9.8 CD40LG CR2 CXCL10 CXCL11 TNFSF13B
3 inflammatory response GO:0006954 9.78 CD40LG CXCL10 CXCL11 IFNA2
4 regulation of immune response GO:0050776 9.74 CD40LG CD81 TNFSF13B
5 defense response to virus GO:0051607 9.72 CXCL10 IFNA2 IFNL3
6 defense response GO:0006952 9.67 CXCL10 CXCL11 IFNA2
7 cell surface receptor signaling pathway GO:0007166 9.65 CD27 CD79A CD81 CXCL10 IFNA2
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.61 CD27 CD40LG TNFSF13B
9 positive regulation of B cell proliferation GO:0030890 9.58 CD81 TNFSF13B
10 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.54 CXCL10 CXCL11
11 T cell costimulation GO:0031295 9.54 CD40LG CD5 TNFSF13B
12 leukocyte chemotaxis GO:0030595 9.52 CXCL10 CXCL11
13 positive regulation of interleukin-10 production GO:0032733 9.51 CD40LG TSLP
14 T cell chemotaxis GO:0010818 9.46 CXCL10 CXCL11
15 B cell differentiation GO:0030183 9.46 CD40LG CD79A CR2 IFNA2
16 immunoglobulin secretion GO:0048305 9.32 CD40LG TNFSF13B
17 B cell proliferation GO:0042100 9.26 CD40LG CD79A CR2 IFNA2
18 regulation of signaling receptor activity GO:0010469 9.17 CD40LG CXCL10 CXCL11 IFNA2 IFNL3 TNFSF13B

Molecular functions related to Cryoglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.46 CD27 CD5 CD79A CR2
2 tumor necrosis factor receptor binding GO:0005164 9.26 CD40LG TNFSF13B
3 cytokine activity GO:0005125 9.1 CD40LG CXCL10 IFNA2 IFNL3 TNFSF13B TSLP
4 CXCR3 chemokine receptor binding GO:0048248 8.96 CXCL10 CXCL11

Sources for Cryoglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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