Aliases & Classifications for Hyper Ige Syndrome

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Hyper Ige Syndrome, Aliases & Descriptions:

Name: Hyper Ige Syndrome 41
Job Syndrome 41 60
Hyper-Ige Recurrent Infection Syndrome 41
 
Hyperimmunoglobulin E Syndrome 41
Job's Syndrome 41
Hies 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Summaries for Hyper Ige Syndrome

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NIH Rare Diseases:41 Hyper ige syndromes (hies) are rare primary immune deficiencies characterized by elevated serum ige, skin inflammation (dermatitis) and recurrent skin and lung infections. there are two forms of hies, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant hies (ad-hies) and autosomal recessive hies (ar-hies). individuals with ad-hies may also have varying degrees of connective tissue, skeletal, and dental abnormalities as well as a distinctive facial appearance. this form is inherited in an autosomal dominant manner and is caused by mutations in the stat3 gene in about 70% of cases. unique characteristics of ar-hies include extreme hypereosinophilia; susceptibility to viral infections such as herpes simplex and molluscum contagiosum; central nervous system involvement; t-cell defects; and a high death rate. ar-hies is inherited in an autosomal recessive manner and is often caused by mutations in the dock8 gene. last updated: 10/10/2012

MalaCards based summary: Hyper Ige Syndrome, also known as job syndrome, is related to hyper-ige recurrent infection syndrome and atopic dermatitis. An important gene associated with Hyper Ige Syndrome is STAT3 (signal transducer and activator of transcription 3 (acute-phase response factor)), and among its related pathways are Immune response Oncostatin M signaling via JAK Stat in human cells and IL12 signaling mediated by STAT4. The compounds curdlan and cxcl6 have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and lung, and related mouse phenotypes are muscle and tumorigenesis.

Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 389)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-ige recurrent infection syndrome31.4IGES, IGHE, STAT3, IFNG, IL4
2atopic dermatitis31.3IL4, TLR2
3dermatitis30.9IGES, IGHE, IL4, IL4R
4asthma30.7IGES, IGHE, IL4
5food allergy30.7IGES, IGHE, IL4
6sinusitis30.4IGHE, IGES
7tetanus30.4IL4, IFNG, TLR2
8aspergillosis30.3TLR2, TLR4, IFNG
9colorectal cancer30.2TLR4, TLR2
10pneumonia30.2IGES, TLR2, TLR4, CXCR2, IL17A
11acute graft versus host disease30.1IFNG, IL4
12malaria30.1IFNG, TLR2
13keratitis29.8TLR2, TLR4, IL17A
14hiv-129.8TLR4, CXCR1, CXCR2, IL4R
15cystic fibrosis29.8IL17A, CXCR1, TLR4, IGES
16graves' disease29.6IGES, IFNG, IL4, IL4R
17prostate cancer29.6TYK2, CXCR1, CXCR2, STAT3, TWIST1
18systemic lupus erythematosus29.4TYK2, TLR2, TLR4, IFNG, IL4, IL17A
19lung cancer29.3IL4R, STAT3, CXCR2, CXCR1
20psoriasis29.0TLR2, CXCR1, CXCR2, STAT3, IFNG, IL4
21arthritis28.9TLR2, TLR4, CXCR1, CXCR2, STAT3, IFNG
22ipex syndrome28.8IGES, IGHE, TLR2, CXCR1, IFNG, IL4
23allergic asthma28.8IGES, IGHE, TLR2, TLR4, IFNG, IL4
24melanoma28.7TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4
25tuberculosis28.5IGES, TLR2, TLR4, CXCR1, CXCR2, IFNG
26hyper-ige recurrent infection syndrome, autosomal recessive10.8
27immunodeficiency 3510.5TYK2
28eosinophilic gastroenteritis10.5IGHE
29primary immunodeficiency disease10.5DOCK8
30strongyloidiasis10.5IGHE
31eczema herpeticum10.5IGHE
32autosomal recessive hyper-ige syndrome due to tyk2 deficiency10.5
33kimura disease10.5IGHE, IGES
34conjunctivitis10.5IGES, IGHE
35periapical granuloma10.4IL4
36intrinsic asthma10.4IGHE, IL4
37molluscum contagiosum10.4
38aneurysm10.4
39egg allergy10.4IGHE, IL4
40leprosy10.4TLR2
41allergic conjunctivitis10.4IGHE, IL4
42leishmaniasis10.4IFNG, IL4
43immunodeficiency, x-linked, with hyper-igm10.4IL4, IGHE
44pulmonary eosinophilia10.4IGHE, IL4
45hypereosinophilic syndrome10.4IGHE, IGES
46necrotizing fasciitis10.4
47fasciitis10.4
48coronary artery aneurysm10.3
49visceral leishmaniasis10.3IFNG, IL4
50cutaneous leishmaniasis10.3IL4, IFNG

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to hyper ige syndrome

Symptoms for Hyper Ige Syndrome

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Drugs & Therapeutics for Hyper Ige Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

31
Skin, T cells, Lung, Bone, B cells, Neutrophil, Bone marrow, Liver, Eye, Brain, Breast, Nk cells

Animal Models for Hyper Ige Syndrome or affiliated genes

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Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
A case of exuberant candidal onychomycosis in a child with hyper IgE syndrome. (24565777)
2014
2
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. (25518794)
2014
3
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. (24197892)
2014
4
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
5
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
6
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013
7
Renal abscess in hyper-IgE syndrome. (23374820)
2013
8
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. (23659370)
2013
9
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. (23830147)
2013
10
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. (22030463)
2012
11
Ruptured thoracoabdominal aneurysm in a 27-year-old with hyper IgE syndrome. (22047831)
2012
12
Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome. (22236428)
2011
13
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. (21346738)
2011
14
Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. (21763205)
2011
15
Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome. (19308447)
2010
16
Clinical manifestations of hyper IgE syndromes. (21178271)
2010
17
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. (20816194)
2010
18
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. (20490271)
2010
19
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
20
Hyper-IgE syndrome. (19717292)
2009
21
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. (18841165)
2009
22
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. (19487419)
2009
23
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. (18978467)
2008
24
Dominant negative STAT-3 mutations in hyper-IgE syndrome]. (18457738)
2008
25
Unusual psoriasiform lesions in a patient with Hyper-IgE syndrome. (17309489)
2007
26
Causes of death in hyper-IgE syndrome. (17335882)
2007
27
STAT3 mutations in the hyper-IgE syndrome. (17881745)
2007
28
The hyper IgE syndrome and mutations in TYK2. (17521577)
2007
29
Congenital patent ductus venosus: an association with the hyper IgE syndrome. (17236905)
2007
30
The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. (17008235)
2006
31
Hyper-IgE syndrome and autoimmunity in Mexican children. (16791602)
2006
32
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. (15206652)
2004
33
Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. (12694256)
2003
34
Increased expression of interleukin-13 but not interleukin-4 in CD4+ cells from patients with the hyper-IgE syndrome. (12067309)
2002
35
Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene. (11746028)
2001
36
Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins. (9714373)
1998
37
Previously undiagnosed hyper-IgE syndrome in an adult with multiple systemic fungal infections. (8977516)
1996
38
Co-existence of Dubowitz and hyper-IgE syndromes: a case report. (8741037)
1996
39
Hyper IgE syndrome induced by HIV infection. (7909476)
1993
40
Atypical antiglomerular basement membrane disease associated with defective leukocyte phagocytosis and hyper-IgE syndrome. (8381945)
1993
41
Perforation of the nasal wall and hyper-IgE syndrome. (8281356)
1993
42
Hyper-IgE syndrome: a case report. (2135680)
1990
43
Alpha-interferon treatment of patient with hyper IgE syndrome. (2567391)
1989
44
Hyper-IgE syndrome and H2-receptor blockade. (2570328)
1989
45
Remission of hyper-IgE syndrome treated with plasmapheresis and cytotoxic immunosuppression. (3391990)
1988
46
Hyper IgE syndrome: four case report. (6549138)
1984
47
Serum IgE and IgG antibodies to tetanus toxoid and candidin in immunodeficient children with the hyper-IgE syndrome. (6602146)
1983
48
Neutrophil and T lymphocyte characteristics of two patients with hyper-IgE syndrome. (6195589)
1983
49
Combined neutrophil and T-cell deficiency: initial report of a kindred with features of the hyper-IgE syndrome and chronic granulomatous disease. (6979928)
1982
50
The hyper IgE syndrome: clinical and therapeutic aspects. (539529)
1979

Variations for Hyper Ige Syndrome

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Clinvar genetic disease variations for Hyper Ige Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1STAT3NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del)deletionPathogenicrs113994138GRCh37Chr 17, 40477056: 40477058
2STAT3NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp)single nucleotide variantPathogenicrs113994135GRCh37Chr 17, 40481661: 40481661
3STAT3NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln)single nucleotide variantPathogenicrs113994136GRCh37Chr 17, 40481660: 40481660
4STAT3NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln)single nucleotide variantPathogenicrs113994137GRCh37Chr 17, 40481441: 40481441
5STAT3NM_139276.2(STAT3): c.1909G> A (p.Val637Met)single nucleotide variantPathogenicrs113994139GRCh37Chr 17, 40474492: 40474492
6STAT3NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile)single nucleotide variantPathogenicrs397514766GRCh37Chr 17, 40481639: 40481639

Expression for genes affiliated with Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for genes affiliated with Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0STAT3, TYK2
29.9IFNG, STAT3
39.9IL4, IFNG
49.9IL4, IFNG
59.9IFNG, IL4
69.8IL4R, IL4
79.8IL4, IL4R
89.7IFNG, STAT3, TYK2
99.7TYK2, STAT3, IFNG
10
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.6IL17A, IL4, IFNG
11
Show member pathways
9.5IL17A, STAT3, TLR4
129.5STAT3, TLR4, TYK2
139.5IL4R, IL4, TYK2
149.5IFNG, STAT3, TLR4
159.5IL4R, IL4, IFNG
16
Show member pathways
9.5IL4R, IL4, IFNG
179.4IL4, IFNG, TLR4
18
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
9.4TYK2, STAT3, IFNG, IL17A
19
Show member pathways
9.4STAT3, TLR4, TLR2
20
Show member pathways
Immune response IL 12 induced IFN gamma production58
9.4IL4, IFNG, STAT3, TYK2
21
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway58
9.4TYK2, STAT3, IFNG, IL4
229.3IFNG, TLR4, TLR2
239.3TLR2, TLR4, IFNG
249.3TLR2, TLR4, IFNG
259.3TLR2, TLR4, IFNG
26
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
9.3IGHE, STAT3, IL4
27
Show member pathways
9.3TYK2, STAT3, IL4, IL4R
28
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
9.3TYK2, STAT3, IL4, IL4R
299.2IL4R, IL4, IGHE
30
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
9.2IGHE, IL4, IL4R
31
Show member pathways
9.1TYK2, TLR2, TLR4, STAT3
32
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1TLR2, TLR4, STAT3, IFNG
339.1TLR2, TLR4, STAT3, IFNG
349.1TLR2, TLR4, IFNG, IL17A
359.1TLR2, TLR4, STAT3, TWIST1
36
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.1TLR2, TLR4, IFNG, IL4
37
Show member pathways
9.0TYK2, STAT3, IFNG, IL4, IL4R
38
Show member pathways
Type III interferon signaling36
9.0TYK2, STAT3, IFNG, IL4, IL4R
399.0TLR2, TLR4, IL4, IL4R
40
Show member pathways
8.8TLR2, STAT3, IL17A, IL17C
41
Show member pathways
8.7TLR2, TLR4, STAT3, IL4, IL4R
42
Show member pathways
IL27-mediated signaling events36
8.6TYK2, TLR2, TLR4, STAT3, IFNG, IL17A
43
Show member pathways
8.6TYK2, TLR2, TLR4, STAT3, IFNG, IL4
44
Show member pathways
8.4TLR2, TLR4, STAT3, IFNG, IL4, IL4R
45
Show member pathways
7.9TYK2, TLR2, TLR4, STAT3, IFNG, IL4
46
Show member pathways
7.9IL4R, TYK2, TLR2, TLR4, STAT3, IFNG
47
Show member pathways
7.4TYK2, TLR4, CXCR1, CXCR2, STAT3, IFNG

Compounds for genes affiliated with Hyper Ige Syndrome

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Compounds related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
1curdlan4310.0TLR2, IL17A
2cxcl6289.9CXCR2, CXCR1
3amphotericin b439.9TLR2, IL4, IFNG
4[125i]cxcl8 (human)289.9CXCR1, CXCR2
5cxcl8289.8CXCR1, CXCR2
6cxcl1289.8CXCR1, CXCR2
7mannan439.7IL17A, TLR4, TLR2
8imiquimod43 59 28 1212.7TLR2, TLR4, IFNG
9pdtc439.6TLR4, IL4, STAT3, IFNG
10groalpha439.5CXCR2, IL17A, CXCR1
11polymyxin b439.5IFNG, TLR4, TLR2, IL4
12poly(i-c)439.4IL4, IFNG, TLR4, TLR2
13ccl343 2810.4CXCR1, IFNG, TLR4, TLR2
14ifn-alpha439.4TLR4, IL17A, TYK2, STAT3, IFNG
15budesonide43 49 1211.3IFNG, IL4, IGHE
16simvastatin43 49 59 28 24 1214.3IL4, TLR2, IFNG, TLR4
17herbimycin a43 5910.3CXCR2, IFNG, CXCR1, IL4
18ly294002439.3STAT3, IL4, TLR4, TYK2, IL17A
19polyinosinic-polycytidylic acid439.3IL4, STAT3, TLR4, TLR2, IFNG
20ionomycin439.2TLR2, IL4, IL17A, IL4R, IFNG
21tacrolimus43 49 1211.2TLR2, TLR4, IFNG, IL4, IL17A
22methacholine43 49 1211.2IL4, IGHE, IGES, IL17A
23phosphoinositide439.1STAT3, CXCR2, IL17A, TLR2, CXCR1
24il 10439.1TLR4, IL4R, IL4, IFNG, TLR2
25lipoteichoic acid439.0TLR4, TLR2, CXCR2
26thymidine43 2410.0IL4, IL4R, IL17A, STAT3, IFNG
27sb 20358043 5910.0IL17A, IFNG, TLR4, IL4, STAT3, TLR2
28infliximab43 49 1211.0TLR4, IGHE, IFNG, IL17A, IL4
29fluticasone propionate43 49 59 1212.0IFNG, IGHE, IL4
30tarc439.0IL4R, IL4, IFNG, CXCR1, IGHE
31pge2439.0IFNG, STAT3, TLR4, TLR2, IL17A, IL4
32genistein43 28 59 2 24 1213.9CXCR1, STAT3, CXCR2, IFNG, TLR4
33latex438.9TLR4, TLR2, IGHE, IGES
34wortmannin438.7TYK2, TLR2, CXCR1, STAT3, TLR4, CXCR2
35endotoxin438.7IL17A, CXCR2, CXCR1, IFNG, TLR2, TLR4
36superoxide43 249.6STAT3, CXCR2, TLR4, TLR2, CXCR1
37cysteine438.3TLR4, IL4, IFNG, TLR2, CXCR1, CXCR2
38nitric oxide43 24 1210.3CXCR2, IL17A, TLR4, TLR2, IGES, IFNG
39allergens438.3IL4R, TLR4, IFNG, IL4, IGES, IGHE
40alanine438.3IGHE, TYK2, TLR2, TLR4, CXCR2, STAT3
41phosphatidylinositol438.1TLR2, TLR4, CXCR1, IL17A, IL4R, STAT3
42histamine43 28 249.9IL4R, TLR4, IL4, IFNG, IGES, TLR2
43cycloheximide437.9TLR4, IFNG, STAT3, CXCR1, IL4R, TLR2
44retinoic acid43 248.8TLR2, IFNG, STAT3, CXCR1, TLR4, IGHE
45rantes437.8TLR4, STAT3, IL4R, IL17A, IL4, IFNG
46actinomycin d437.7IL4, IL4R, IL17A, IGHE, TLR2, TLR4
47dexamethasone43 49 28 1210.7IL17A, TLR2, TLR4, CXCR1, STAT3, IFNG
48vegf437.6TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4
49cyclosporin a43 28 599.5TLR2, IGHE, IGES, IFNG, IL4, IL17A
50tyrosine437.4IL4, IL4R, STAT3, IL17A, CXCR2, TYK2

GO Terms for genes affiliated with Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.5IL17A, IL4, IFNG, TLR4, TLR2
2extracellular spaceGO:00056158.4IL4, IL17A, IL4R, IL17C, IFNG

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-23 productionGO:003274710.3IL17A, IFNG
2positive regulation of isotype switching to IgG isotypesGO:004830410.2IFNG, IL4
3positive regulation of chemokine biosynthetic processGO:004508010.2IL4, IFNG
4positive regulation of osteoclast differentiationGO:004567210.1IFNG, IL17A
5negative regulation of growth of symbiont in hostGO:004413010.1TLR2, IFNG
6positive regulation of interleukin-12 biosynthetic processGO:004508410.0TLR4, IFNG
7interleukin-8-mediated signaling pathwayGO:003811210.0CXCR2, CXCR1
8cellular response to lipoteichoic acidGO:007122310.0TLR2, TLR4
9positive regulation of macrophage cytokine productionGO:006090710.0TLR2, TLR4
10positive regulation of tumor necrosis factor biosynthetic processGO:004253510.0TLR2, TLR4
11I-kappaB phosphorylationGO:00072529.9TLR4, TLR2
12positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.9TLR4, TLR2
13negative regulation of osteoclast differentiationGO:00456719.9TLR4, IL4
14dendritic cell chemotaxisGO:00024079.9CXCR2, CXCR1
15positive regulation of chemokine productionGO:00327229.9TLR2, TLR4
16defense response to protozoanGO:00428329.9IFNG, IL4, IL4R
17positive regulation of MHC class II biosynthetic processGO:00453489.8TLR4, IFNG, IL4
18positive regulation of NF-kappaB import into nucleusGO:00423469.8TLR2, TLR4
19positive regulation of interleukin-8 productionGO:00327579.8TLR4, TLR2
20positive regulation of interferon-beta productionGO:00327289.8TLR2, TLR4
21positive regulation of interleukin-10 productionGO:00327339.8IL4, TLR4, TLR2
22positive regulation of cytokine production involved in inflammatory responseGO:019000179.8IL17A, IL17C
23negative regulation of interleukin-17 productionGO:00327009.7IFNG, TLR4, TLR2
24positive regulation of interleukin-12 productionGO:00327359.7IFNG, TLR4, TLR2
25positive regulation of nitric oxide biosynthetic processGO:00454299.7TLR2, TLR4, IFNG
26lipopolysaccharide-mediated signaling pathwayGO:00316639.7TLR4, TLR2
27cytokine-mediated signaling pathwayGO:00192219.7IFNG, STAT3, TYK2
28chemokine-mediated signaling pathwayGO:00700989.6CXCR2, CXCR1
29chemotaxisGO:00069359.6CXCR1, CXCR2, IL4
30negative regulation of tumor necrosis factor productionGO:00327209.6TLR4, TWIST1
31positive regulation of tumor necrosis factor productionGO:00327609.4TWIST1, IFNG, TLR4, TLR2
32receptor internalizationGO:00316239.3CXCR2, CXCR1
33cell surface receptor signaling pathwayGO:00071668.9CXCR1, CXCR2, IFNG, IL17C
34positive regulation of transcription from RNA polymerase II promoterGO:00459448.6TLR2, TLR4, STAT3, IFNG, IL4, IL17A
35inflammatory responseGO:00069548.6TLR2, CXCR1, CXCR2, IL17A, IL17C
36immune responseGO:00069558.5IGHE, TLR2, TLR4, IL4, IL17A, IL4R

Molecular functions related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-8 receptor activityGO:00049189.7CXCR2, CXCR1
2interleukin-8 bindingGO:00199599.5CXCR2, CXCR1
3lipopolysaccharide receptor activityGO:00018759.3TLR2, TLR4
4cytokine activityGO:00051258.8IL17C, IL17A, IL4, IFNG
5protein bindingGO:00055157.3TLR2, TLR4, DOCK8, CXCR2, STAT3, IL4

Products for genes affiliated with Hyper Ige Syndrome

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Sources for Hyper Ige Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet