SLEB2
MCID: SYS038
MIFTS: 20

Systemic Lupus Erythematosus 2 (SLEB2)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Systemic Lupus Erythematosus 2

MalaCards integrated aliases for Systemic Lupus Erythematosus 2:

Name: Systemic Lupus Erythematosus 2 57 72 29
Systemic Lupus Erythematosus, Susceptibility to, 2 57 13 70
Sleb2 57 72
Lupus Erythematosus, Systemic, Susceptibility to, Type 2 39

Classifications:



External Ids:

OMIM® 57 605218
MeSH 44 D008180
MedGen 41 C1854577
UMLS 70 C1854577

Summaries for Systemic Lupus Erythematosus 2

UniProtKB/Swiss-Prot : 72 Systemic lupus erythematosus 2: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

MalaCards based summary : Systemic Lupus Erythematosus 2, also known as systemic lupus erythematosus, susceptibility to, 2, is related to systemic lupus erythematosus and lupus erythematosus. An important gene associated with Systemic Lupus Erythematosus 2 is PDCD1 (Programmed Cell Death 1). Affiliated tissues include bone marrow, bone and skin.

More information from OMIM: 605218

Related Diseases for Systemic Lupus Erythematosus 2

Symptoms & Phenotypes for Systemic Lupus Erythematosus 2

Clinical features from OMIM®:

605218 (Updated 20-May-2021)

Drugs & Therapeutics for Systemic Lupus Erythematosus 2

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 2

Genetic Tests for Systemic Lupus Erythematosus 2

Genetic tests related to Systemic Lupus Erythematosus 2:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 2 29 PDCD1

Anatomical Context for Systemic Lupus Erythematosus 2

MalaCards organs/tissues related to Systemic Lupus Erythematosus 2:

40
Bone Marrow, Bone, Skin

Publications for Systemic Lupus Erythematosus 2

Articles related to Systemic Lupus Erythematosus 2:

(show top 50) (show all 58)
# Title Authors PMID Year
1
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. 57
12402038 2002
2
A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. 57
10677248 2000
3
A tale of autoimmunity: thymoma, thymectomy, and systemic lupus erythematosus. 61
32277368 2020
4
Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency. 61
32636238 2020
5
Long-term effects of combined B-cell immunomodulation with rituximab and belimumab in severe, refractory systemic lupus erythematosus: 2-year results. 61
32591783 2020
6
APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI). 61
31601430 2020
7
Juvenile idiopathic inflammatory myopathies: A clinicopathological study with emphasis on muscle histology. 61
30706861 2019
8
Bone Formation Parameters of the Biopsied Ilium Differ between Subtrochanteric and Diaphyseal Atypical Femoral Fractures in Bisphosphonate-Treated Patients. 61
29212985 2017
9
Effects of Miconazole Oral Gel on Blood Concentrations of Tacrolimus and Cyclosporine: A Retrospective Observational Study. 61
27559841 2016
10
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 61
27114460 2016
11
Ipilimumab Therapy in Patients With Advanced Melanoma and Preexisting Autoimmune Disorders. 61
26633184 2016
12
Neonatal lupus syndrome in a Nigerian child. 61
22605870 2012
13
Therapeutic plasma exchange for the management of refractory systemic autoimmune diseases: report of 31 cases and review of the literature. 61
21569864 2011
14
Clues for previously undiagnosed connective tissue disease in patients with trigeminal neuralgia. 61
20661065 2010
15
Functional impairment of the arterial wall in primary Sjögren's syndrome: combined action of immunologic and inflammatory factors. 61
20191479 2010
16
[Aspergillosis in systemic diseases treated with steroids and/or immunosuppressive drugs: report of 9 cases and review of the literature]. 61
16982117 2006
17
[Autoimmunological and allergic disorders with Hashimoto and Graves disease]. 61
17479856 2006
18
Lupus erythematosus in children: a report of six cases. 61
16150219 2005
19
Response of vasculitic peripheral neuropathy to intravenous immunoglobulin. 61
16127015 2005
20
Secondary pulmonary arterial hypertension: treated with endothelin receptor blockade. 61
16392231 2005
21
Anti-DNA topoisomerase IIalpha autoantibodies in localized scleroderma. 61
14730620 2004
22
Adaptation to chronic pain in systemic lupus erythematosus: applicability of the multidimensional pain inventory. 61
12873277 2003
23
Nutrient intake in women with primary and secondary Sjögren's syndrome. 61
12571668 2003
24
Non-Hodgkin's lymphoma in patients with systemic lupus erythematosus: 2 case reports. 61
11975105 2002
25
Childhood cryptococcosis: an increasing problem in the era of AIDS. 61
11529385 2001
26
[Advances in immunoserology tests in clinical medicine: autoantibodies, immune complexes and DNA analysis]. 61
11307318 2001
27
Lupus erythematosus associated with genetically determined deficiency of the second component of the complement. 61
11115162 2000
28
Immunological analysis of pulmonary hypertension in connective tissue diseases. 61
10555891 1999
29
Malignancies in children who initially present with rheumatic complaints. 61
9880449 1999
30
Update on immunosuppressive therapy. 61
9608317 1998
31
Approaches to the management of systemic lupus erythematosus. 61
9309196 1997
32
Etiological factors and underlying conditions in patients with leucocytoclastic vasculitis. 61
8978964 1996
33
Systemic lupus erythematosus: emerging concepts. Part 2: Dermatologic and joint disease, the antiphospholipid antibody syndrome, pregnancy and hormonal therapy, morbidity and mortality, and pathogenesis. 61
7762914 1995
34
Myasthenia gravis and scleroderma. 61
8230029 1993
35
Ganglioside antibodies: a lack of diagnostic specificity and clinical utility? 61
1447574 1992
36
Small nuclear ribonucleoprotein polypeptides in rat sperm. 61
1451430 1992
37
[Systemic lupus erythematosus. 2. Factors of predictive significance for survival]. 61
2058039 1991
38
The pharmacokinetics of plasma total and free prednisolone during an alternate-day regimen. 61
2013347 1991
39
Palindromic rheumatism: a response to chloroquine. 61
2023196 1991
40
[Membranous glomerulonephritis. Experience at the Instituto Nacional de la Nutrición Salvador Zubirán]. 61
2267443 1990
41
Antimouse laminin antibodies in IgA nephropathy and various glomerular diseases. 61
1706484 1990
42
[Treatment of systemic diseases with pulse cyclophosphamide: 15 cases]. 61
2256584 1990
43
Perls' ferrocyanide test for iron in the diagnosis of vasculitic neuropathy. 61
2479878 1989
44
[Immunologic anomalies in inflammatory diseases of connective tissue in children]. 61
2511614 1989
45
[Connectivitis and diseases of the digestive system]. 61
2761749 1989
46
The load of genetic and partially genetic diseases in man. II. Some selected common multifactorial diseases: estimates of population prevalence and of detriment in terms of years of lost and impaired life. 61
3059177 1988
47
Lupus anticoagulant and antiplatelet properties of human hybridoma autoantibodies. 61
3116088 1987
48
Esophageal manometric findings in autoimmune rheumatic diseases: is scleroderma esophagus a specific entity? 61
3495853 1987
49
Studies of peritoneal macrophage function in murine systemic lupus erythematosus. 2. Nature of elevated resident peritoneal cells in NZB and (NZB x NZW)F1 mice. 61
3861745 1985
50
Clinical associations of fibroblast growth promoting factor in scleroderma. 61
6699832 1984

Variations for Systemic Lupus Erythematosus 2

Expression for Systemic Lupus Erythematosus 2

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 2.

Pathways for Systemic Lupus Erythematosus 2

GO Terms for Systemic Lupus Erythematosus 2

Sources for Systemic Lupus Erythematosus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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