Aliases & Classifications for Hyper Ige Syndrome

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Aliases & Descriptions for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 42
Job Syndrome 42 61
Hyper-Ige Recurrent Infection Syndrome 42
 
Hyperimmunoglobulin E Syndrome 42
Job's Syndrome 42
Hies 42


Classifications:



Summaries for Hyper Ige Syndrome

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NIH Rare Diseases:42 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:

Search ClinicalTrials for Hyper Ige Syndrome

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:

5
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
110.0TYK2, STAT3
29.9STAT3, IFNG
39.9IFNG, IL4
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
9.6IFNG, IL4, IL17A
11
Show member pathways
9.5IL17A, TLR4, STAT3
129.5TLR4, TYK2, STAT3
139.5IL4R, TYK2, IL4
149.5IFNG, TLR4, STAT3
15
Show member pathways
9.5IFNG, IL4R, IL4
169.5IFNG, IL4, IL4R
179.4IL4, TLR4, IFNG
18
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
9.4IL17A, STAT3, TYK2, IFNG
19
Show member pathways
9.4STAT3, TLR4, TLR2
20
Show member pathways
Immune response IL 12 induced IFN gamma production59
9.4IL4, IFNG, STAT3, TYK2
21
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway59
9.4IL4, IFNG, STAT3, TYK2
229.3IFNG, TLR4, TLR2
239.3TLR4, TLR2, IFNG
249.3IFNG, TLR2, TLR4
259.3TLR2, TLR4, IFNG
26
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells36
9.3STAT3, IGHE, IL4
27
Show member pathways
9.3STAT3, IL4, IL4R, TYK2
28
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
9.3TYK2, STAT3, IL4R, IL4
299.2IL4, IL4R, IGHE
30
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
9.2IGHE, IL4, IL4R
31
Show member pathways
9.1TYK2, STAT3, TLR2, TLR4
329.1TLR4, STAT3, TLR2, IFNG
33
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1STAT3, TLR4, TLR2, IFNG
349.1TLR2, IL17A, IFNG, TLR4
359.1TLR2, STAT3, TLR4, TWIST1
36
Show member pathways
Transcription NF kB signaling pathway59
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response59
9.1TLR2, TLR4, IFNG, IL4
37
Show member pathways
9.0TYK2, STAT3, IFNG, IL4, IL4R
38
Show member pathways
Type III interferon signaling36
9.0IL4, IFNG, STAT3, TYK2, IL4R
399.0TLR4, TLR2, IL4R, IL4
40
Show member pathways
8.8IL17A, IL17C, STAT3, TLR2
41
Show member pathways
8.7IL4, TLR2, TLR4, STAT3, IL4R
42
Show member pathways
IL27-mediated signaling events36
8.6TLR4, TLR2, TYK2, STAT3, IFNG, IL17A
43
Show member pathways
8.6TYK2, TLR2, TLR4, STAT3, IFNG, IL4
44
Show member pathways
8.4STAT3, IL4R, TLR2, TLR4, IL4, IFNG
45
Show member pathways
7.9TLR4, IL4, IL4R, IFNG, STAT3, TLR2
46
Show member pathways
7.9IL17A, IL4R, IL4, TYK2, TLR2, IFNG
47
Show member pathways
7.4TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4

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
1curdlan4410.0TLR2, IL17A
2cxcl6289.9CXCR2, CXCR1
3amphotericin b449.9TLR2, IL4, IFNG
4[125i]cxcl8 (human)289.9CXCR1, CXCR2
5cxcl8289.8CXCR1, CXCR2
6cxcl1289.8CXCR1, CXCR2
7mannan449.7IL17A, TLR4, TLR2
8imiquimod44 60 28 1112.7TLR2, TLR4, IFNG
9pdtc449.6TLR4, IL4, STAT3, IFNG
10groalpha449.5CXCR2, IL17A, CXCR1
11polymyxin b449.5IFNG, TLR4, TLR2, IL4
12poly(i-c)449.4IL4, IFNG, TLR4, TLR2
13ccl344 2810.4CXCR1, IFNG, TLR4, TLR2
14ifn-alpha449.4TLR4, IL17A, TYK2, STAT3, IFNG
15budesonide44 50 1111.3IFNG, IL4, IGHE
16simvastatin44 50 60 28 24 1114.3IL4, TLR2, IFNG, TLR4
17herbimycin a44 6010.3CXCR2, IFNG, CXCR1, IL4
18ly294002449.3STAT3, IL4, TLR4, TYK2, IL17A
19polyinosinic-polycytidylic acid449.3IL4, STAT3, TLR4, TLR2, IFNG
20ionomycin449.2TLR2, IL4, IL17A, IL4R, IFNG
21tacrolimus44 50 1111.2TLR2, TLR4, IFNG, IL4, IL17A
22methacholine44 50 1111.2IL4, IGHE, IGES, IL17A
23phosphoinositide449.1STAT3, CXCR2, IL17A, TLR2, CXCR1
24il 10449.1TLR4, IL4R, IL4, IFNG, TLR2
25lipoteichoic acid449.0TLR4, TLR2, CXCR2
26thymidine44 2410.0IL4, IL4R, IL17A, STAT3, IFNG
27sb 20358044 6010.0IL17A, IFNG, TLR4, IL4, STAT3, TLR2
28infliximab44 50 1111.0TLR4, IGHE, IFNG, IL17A, IL4
29fluticasone propionate44 50 60 1112.0IFNG, IGHE, IL4
30tarc449.0IL4R, IL4, IFNG, CXCR1, IGHE
31pge2449.0IFNG, STAT3, TLR4, TLR2, IL17A, IL4
32genistein44 28 60 1 24 1113.9CXCR1, STAT3, CXCR2, IFNG, TLR4
33latex448.9TLR4, TLR2, IGHE, IGES
34wortmannin448.7TYK2, TLR2, CXCR1, STAT3, TLR4, CXCR2
35endotoxin448.7IL17A, CXCR2, CXCR1, IFNG, TLR2, TLR4
36superoxide44 249.6STAT3, CXCR2, TLR4, TLR2, CXCR1
37cysteine448.3TLR4, IL4, IFNG, TLR2, CXCR1, CXCR2
38nitric oxide44 24 1110.3CXCR2, IL17A, TLR4, TLR2, IGES, IFNG
39allergens448.3IL4R, TLR4, IFNG, IL4, IGES, IGHE
40alanine448.3IGHE, TYK2, TLR2, TLR4, CXCR2, STAT3
41phosphatidylinositol448.1TLR2, TLR4, CXCR1, IL17A, IL4R, STAT3
42histamine44 28 249.9IL4R, TLR4, IL4, IFNG, IGES, TLR2
43cycloheximide447.9TLR4, IFNG, STAT3, CXCR1, IL4R, TLR2
44retinoic acid44 248.8TLR2, IFNG, STAT3, CXCR1, TLR4, IGHE
45rantes447.8TLR4, STAT3, IL4R, IL17A, IL4, IFNG
46actinomycin d447.7IL4, IL4R, IL17A, IGHE, TLR2, TLR4
47dexamethasone44 50 28 1110.7IL17A, TLR2, TLR4, CXCR1, STAT3, IFNG
48vegf447.6TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4
49cyclosporin a44 28 609.5TLR2, IGHE, IGES, IFNG, IL4, IL17A
50tyrosine447.4IL4, 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:004830410.2IL4, IFNG
3positive regulation of chemokine biosynthetic processGO:004508010.2IFNG, IL4
4positive regulation of osteoclast differentiationGO:004567210.1IFNG, IL17A
5positive regulation of interleukin-12 biosynthetic processGO:004508410.1TLR4, IFNG
6negative regulation of growth of symbiont in hostGO:004413010.1TLR2, IFNG
7interleukin-8-mediated signaling pathwayGO:003811210.0CXCR1, CXCR2
8cellular response to lipoteichoic acidGO:007122310.0TLR2, TLR4
9positive regulation of macrophage cytokine productionGO:006090710.0TLR4, TLR2
10positive regulation of tumor necrosis factor biosynthetic processGO:004253510.0TLR4, TLR2
11positive regulation of nitric-oxide synthase biosynthetic processGO:00517709.9TLR4, TLR2
12I-kappaB phosphorylationGO:00072529.9TLR2, TLR4
13negative regulation of osteoclast differentiationGO:00456719.9TLR4, IL4
14dendritic cell chemotaxisGO:00024079.9CXCR1, CXCR2
15positive regulation of chemokine productionGO:00327229.9TLR4, TLR2
16defense response to protozoanGO:00428329.9IFNG, IL4, IL4R
17positive regulation of NF-kappaB import into nucleusGO:00423469.8TLR4, TLR2
18positive regulation of MHC class II biosynthetic processGO:00453489.8IL4, IFNG, 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, TLR2, TLR4
22negative regulation of interleukin-17 productionGO:00327009.7IFNG, TLR2, TLR4
23positive regulation of cytokine production involved in inflammatory responseGO:019000179.7IL17A, IL17C
24positive regulation of interleukin-12 productionGO:00327359.7IFNG, TLR4, TLR2
25positive regulation of nitric oxide biosynthetic processGO:00454299.7TLR4, TLR2, IFNG
26lipopolysaccharide-mediated signaling pathwayGO:00316639.7TLR2, TLR4
27cytokine-mediated signaling pathwayGO:00192219.7TYK2, STAT3, IFNG
28chemokine-mediated signaling pathwayGO:00700989.6CXCR1, CXCR2
29chemotaxisGO:00069359.6CXCR2, IL4, CXCR1
30negative regulation of tumor necrosis factor productionGO:00327209.6TLR4, TWIST1
31positive regulation of tumor necrosis factor productionGO:00327609.4TLR4, TLR2, IFNG, TWIST1
32receptor internalizationGO:00316239.3CXCR1, CXCR2
33cell surface receptor signaling pathwayGO:00071668.9IL17C, CXCR1, IFNG, CXCR2
34positive regulation of transcription from RNA polymerase II promoterGO:00459448.6STAT3, TWIST1, IL17A, IFNG, IL4, TLR4
35inflammatory responseGO:00069548.6IL17C, TLR2, CXCR1, IL17A, CXCR2
36immune responseGO:00069558.5IGHE, TLR2, TLR4, IL17A, IL4R, IL4

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

Sources for Hyper Ige Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet