HIES
MCID: HYP458
MIFTS: 71

Hyper Ige Syndrome (HIES) malady

Genetic diseases, Rare diseases, Skin diseases, Blood diseases, Immune diseases categories
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Summaries for Hyper Ige Syndrome

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Hyper Ige Syndrome, also known as hyper-ige recurrent infection syndrome, is related to autosomal dominant hyper ige syndrome and dermatitis, and has symptoms including eosinophils anomalies/hypereosinophilia, hyperextensible joints/articular hyperlaxity and craniostenosis/craniosynostosis/sutural synostosis. 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 bone, and related mouse phenotypes are muscle and tumorigenesis.

Description from OMIM:47 147060

Aliases & Classifications for Hyper Ige Syndrome

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43NIH Rare Diseases, 62UMLS, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
job syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

hyper ige syndrome 43
hyper-ige recurrent infection syndrome 43 47
job's syndrome 43 62
job syndrome 43 49
hyper-immunoglobulin e syndrome, autosomal dominant 62
hyperimmunoglobulin e-recurrent infection syndrome 49
autosomal dominant hyperimmunoglobulin e syndrome 49
hyperimmunoglobulin e syndrome type 1 49
autosomal dominant hyper-ige syndrome 49
hyperimmunoglobulin e syndrome 43
autosomal dominant hies 49
buckley syndrome 49
ad-hies 49
hies 43


External Ids:

OMIM47 147060
ICD10 via Orphanet26 D82.4
UMLS via Orphanet63 C2936739, C3489795
SNOMED-CT via Orphanet59 50926003

Related Diseases for Hyper Ige Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 396)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant hyper ige syndrome31.3IGES, IGHE, STAT3, IFNG, IL4
2dermatitis31.0IGES, IGHE, IFNG, IL4, IL17A
3atopic dermatitis31.0IL4, TLR2
4tyrosine kinase 2 deficiency30.8TYK2
5pneumonia30.5IGES, TLR2, TLR4, CXCR2, IL17A
6asthma30.3IGES, IGHE, IL4
7food allergy30.3IGES, IGHE, IL4
8tetanus30.3IL4, IFNG, TLR2
9aspergillosis30.3TLR2, TLR4, IFNG
10systemic lupus erythematosus30.2TYK2, TLR2, TLR4, IFNG, IL4, IL17A
11burkitt's lymphoma30.1IL4R, IL4, STAT3, TLR4, TYK2
12sepsis30.1TLR2, TLR4, CXCR1, CXCR2, IL17A
13psoriasis29.9TLR2, CXCR1, CXCR2, STAT3, IFNG, IL4
14malaria29.8IFNG, TLR2
15acute graft versus host disease29.8IFNG, IL4
16colorectal cancer29.8TLR4, TLR2
17encephalomyelitis29.8STAT3, IFNG, IL4, IL17A
18multiple sclerosis29.8CXCR1, CXCR2, IFNG, IL4, IL17A, IL4R
19cystic fibrosis29.7IL17A, CXCR1, TLR4, IGES
20ankylosing spondylitis29.7IL17A, TLR4
21graves' disease29.7IGES, IFNG, IL4, IL4R
22tuberculosis29.7IGES, TLR2, TLR4, CXCR1, CXCR2, IFNG
23arthritis29.7TLR2, TLR4, CXCR1, CXCR2, STAT3, IFNG
24allergic asthma29.6IGES, IGHE, TLR2, TLR4, IFNG, IL4
25ovarian cancer29.6CXCR1, STAT3, IL4R, TWIST1
26prostate cancer29.6TYK2, CXCR1, CXCR2, STAT3, TWIST1
27ipex syndrome29.5IGES, IGHE, TLR2, CXCR1, IFNG, IL4
28melanoma29.5TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4
29autosomal recessive hyper ige syndrome10.8
30job's syndrome10.6
31molluscum contagiosum10.4
32necrotizing fasciitis10.3
33fasciitis10.3
34coronary artery aneurysm10.3
35chronic granulomatous disease10.3
36diffuse large b-cell lymphoma10.3
37lupus erythematosus10.3
38t cell deficiency10.3
39b-cell lymphomas10.3
40aneurysm10.3
41hyper-ige recurrent infection syndrome, autosomal recessive10.3
42hematopoietic stem cell transplantation10.3
43his bundle tachycardia10.3
44right bundle branch block10.3
45dysfibrinogenemia10.3
46thalassemia10.2
47nocardiosis10.2
48neonatal diabetes mellitus10.2
49bullous pemphigoid10.2
50pseudotumor cerebri10.2

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

147060

Clinical features from OMIM:

147060

Symptoms:

49 (show all 38)
  • eosinophils anomalies/hypereosinophilia
  • hyperextensible joints/articular hyperlaxity
  • craniostenosis/craniosynostosis/sutural synostosis
  • mutiple fractures/bone fragility
  • autosomal recessive inheritance
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • arterial aneurism (excluding aorta)
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • lymphoma
  • fever/chilling
  • atelectasia/pulmonary collapse
  • cough
  • onyxis/paronyxis/ungual inflammation
  • frontal bossing/prominent forehead
  • autosomal dominant inheritance
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anomalies of the immunitary system
  • repeat respiratory infections
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • pruritus/itching
  • eczema
  • cutaneous rash
  • chronic skin infection/ulcerations/ulcers/cancrum
  • face/facial anomalies
  • deepset eyes/enophthalmos
  • dysplastic/thick/grooved fingernails
  • hair and scalp anomalies
  • follicular/erythematous/edematous papules/milium
  • scoliosis
  • chronic/relapsing otitis
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of teeth and dentition
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • gingivitis
  • broad nose/nasal bridge
  • anomalies of skin, subcutaneous tissue and mucosae

Drugs & Therapeutics for Hyper Ige Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Hyper Ige Syndrome:

33
Skin, T cells, Bone, Lung, Eye, B cells, Liver, Bone marrow, Breast, Brain, Nk cells

Animal Models for Hyper Ige Syndrome or affiliated genes

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37MGI
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Publications for Hyper Ige Syndrome

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52PubMed
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Articles related to Hyper Ige Syndrome:

(show top 50)    (show all 200)
idTitleAuthorsYear
1
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. (24197892)
2014
2
Reduced bone density in patients with autosomal dominant hyper-IgE syndrome. (23606327)
2013
3
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
4
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. (23020750)
2013
5
Renal abscess in hyper-IgE syndrome. (23374820)
2013
6
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. (23659370)
2013
7
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
8
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. (22030463)
2012
9
Ruptured thoracoabdominal aneurysm in a 27-year-old with hyper IgE syndrome. (22047831)
2012
10
Molecular mechanisms of the immunological abnormalities in hyper-IgE syndrome. (22236428)
2011
11
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. (21346738)
2011
12
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
13
Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome. (19308447)
2010
14
Clinical manifestations of hyper IgE syndromes. (21178271)
2010
15
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. (20816194)
2010
16
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. (20490271)
2010
17
Invasive fungal disease in autosomal-dominant hyper-IgE syndrome. (20392475)
2010
18
Hyper-IgE syndrome. (19717292)
2009
19
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
20
Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. (19487419)
2009
21
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. (18978467)
2008
22
Dominant negative STAT-3 mutations in hyper-IgE syndrome]. (18457738)
2008
23
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. (18552413)
2008
24
Unusual psoriasiform lesions in a patient with Hyper-IgE syndrome. (17309489)
2007
25
Causes of death in hyper-IgE syndrome. (17335882)
2007
26
STAT3 mutations in the hyper-IgE syndrome. (17881745)
2007
27
The hyper IgE syndrome and mutations in TYK2. (17521577)
2007
28
Congenital patent ductus venosus: an association with the hyper IgE syndrome. (17236905)
2007
29
The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. (17008235)
2006
30
Hyper-IgE syndrome and autoimmunity in Mexican children. (16791602)
2006
31
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. (15206652)
2004
32
Cytokine imbalance in hyper-IgE syndrome: reduced expression of transforming growth factor beta and interferon gamma genes in circulating activated T cells. (12694256)
2003
33
A patient with hyper-IgE syndrome: a multisystem disorder. (12399747)
2002
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hyper Ige Syndrome:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1STAT3p.Arg382LeuVAR_037365
2STAT3p.Arg382GlnVAR_037366
3STAT3p.Arg382TrpVAR_037367
4STAT3p.Phe384LeuVAR_037368
5STAT3p.Phe384SerVAR_037369
6STAT3p.Thr389IleVAR_037370
7STAT3p.Arg423GlnVAR_037371
8STAT3p.His437TyrVAR_037372
9STAT3p.Ser611AsnVAR_037375
10STAT3p.Phe621ValVAR_037376
11STAT3p.Thr622IleVAR_037377
12STAT3p.Val637LeuVAR_037378
13STAT3p.Val637MetVAR_037379
14STAT3p.Tyr657CysVAR_037381

Clinvar genetic disease variations for Hyper Ige Syndrome:

1
id Gene Name 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
5STAT3STAT3, ARG383LEUsingle nucleotide variantPathogenic
6STAT3NM_139276.2(STAT3): c.1909G> A (p.Val637Met)single nucleotide variantPathogenicrs113994139GRCh37Chr 17, 40474492: 40474492
7STAT3NM_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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyper Ige Syndrome

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

Pathways for genes affiliated with Hyper Ige Syndrome

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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems, 30KEGG, 55Reactome, 61Tocris Bioscience, 5Cell Signaling Technology, 12EMD Millipore
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Pathways related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(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 pathway38
TCR Signaling Pathway38
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 events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.4TYK2, STAT3, IFNG, IL17A
19
Show member pathways
9.4STAT3, TLR4, TLR2
20
Show member pathways
Immune response IL 12 induced IFN gamma production60
9.4IL4, IFNG, STAT3, TYK2
21
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
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 pathway60
Fc-epsilon receptor I signaling in mast cells38
9.3IGHE, STAT3, IL4
27
Show member pathways
9.3TYK2, STAT3, IL4, IL4R
28
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3TYK2, STAT3, IL4, IL4R
299.2IL4R, IL4, IGHE
30
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.2IGHE, IL4, IL4R
31
Show member pathways
9.1TYK2, TLR2, TLR4, STAT3
32
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
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 pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.1TLR2, TLR4, IFNG, IL4
37
Show member pathways
9.0TYK2, STAT3, IFNG, IL4, IL4R
38
Show member pathways
Type III interferon signaling38
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 events38
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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Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
1curdlan4510.0TLR2, IL17A
2cxcl6299.9CXCR2, CXCR1
3amphotericin b459.9TLR2, IL4, IFNG
4[125i]cxcl8 (human)299.9CXCR1, CXCR2
5cxcl8299.8CXCR1, CXCR2
6cxcl1299.8CXCR1, CXCR2
7mannan459.7IL17A, TLR4, TLR2
8imiquimod45 61 29 1112.7TLR2, TLR4, IFNG
9pdtc459.6TLR4, IL4, STAT3, IFNG
10groalpha459.5CXCR2, IL17A, CXCR1
11polymyxin b459.5IFNG, TLR4, TLR2, IL4
12poly(i-c)459.4IL4, IFNG, TLR4, TLR2
13ccl345 2910.4CXCR1, IFNG, TLR4, TLR2
14ifn-alpha459.4TLR4, IL17A, TYK2, STAT3, IFNG
15budesonide45 51 1111.3IFNG, IL4, IGHE
16simvastatin45 51 61 29 24 1114.3IL4, TLR2, IFNG, TLR4
17herbimycin a45 6110.3CXCR2, IFNG, CXCR1, IL4
18ly294002459.3STAT3, IL4, TLR4, TYK2, IL17A
19polyinosinic-polycytidylic acid459.3IL4, STAT3, TLR4, TLR2, IFNG
20ionomycin459.2TLR2, IL4, IL17A, IL4R, IFNG
21tacrolimus45 51 1111.2TLR2, TLR4, IFNG, IL4, IL17A
22methacholine45 51 1111.2IL4, IGHE, IGES, IL17A
23phosphoinositide459.1STAT3, CXCR2, IL17A, TLR2, CXCR1
24il 10459.1TLR4, IL4R, IL4, IFNG, TLR2
25lipoteichoic acid459.0TLR4, TLR2, CXCR2
26thymidine45 2410.0IL4, IL4R, IL17A, STAT3, IFNG
27sb 20358045 6110.0IL17A, IFNG, TLR4, IL4, STAT3, TLR2
28infliximab45 51 1111.0TLR4, IGHE, IFNG, IL17A, IL4
29fluticasone propionate45 51 61 1112.0IFNG, IGHE, IL4
30tarc459.0IL4R, IL4, IFNG, CXCR1, IGHE
31pge2459.0IFNG, STAT3, TLR4, TLR2, IL17A, IL4
32genistein45 29 61 3 24 1113.9CXCR1, STAT3, CXCR2, IFNG, TLR4
33latex458.9TLR4, TLR2, IGHE, IGES
34wortmannin458.7TYK2, TLR2, CXCR1, STAT3, TLR4, CXCR2
35endotoxin458.7IL17A, CXCR2, CXCR1, IFNG, TLR2, TLR4
36superoxide45 249.6STAT3, CXCR2, TLR4, TLR2, CXCR1
37cysteine458.3TLR4, IL4, IFNG, TLR2, CXCR1, CXCR2
38nitric oxide45 24 1110.3CXCR2, IL17A, TLR4, TLR2, IGES, IFNG
39allergens458.3IL4R, TLR4, IFNG, IL4, IGES, IGHE
40alanine458.3IGHE, TYK2, TLR2, TLR4, CXCR2, STAT3
41phosphatidylinositol458.1TLR2, TLR4, CXCR1, IL17A, IL4R, STAT3
42histamine45 29 249.9IL4R, TLR4, IL4, IFNG, IGES, TLR2
43cycloheximide457.9TLR4, IFNG, STAT3, CXCR1, IL4R, TLR2
44retinoic acid45 248.8TLR2, IFNG, STAT3, CXCR1, TLR4, IGHE
45rantes457.8TLR4, STAT3, IL4R, IL17A, IL4, IFNG
46actinomycin d457.7IL4, IL4R, IL17A, IGHE, TLR2, TLR4
47dexamethasone45 51 29 1110.7IL17A, TLR2, TLR4, CXCR1, STAT3, IFNG
48vegf457.6TLR4, CXCR1, CXCR2, STAT3, IFNG, IL4
49cyclosporin a45 29 619.5TLR2, IGHE, IGES, IFNG, IL4, IL17A
50tyrosine457.4IL4, IL4R, STAT3, IL17A, CXCR2, TYK2

GO Terms for genes affiliated with Hyper Ige Syndrome

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16Gene Ontology
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Cellular components related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.5TLR2, TLR4, IFNG, IL4, IL17A
2extracellular spaceGO:0056158.4IFNG, IL4, IL17A, IL4R, IL17C

Biological processes related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-23 productionGO:03274710.3IL17A, IFNG
2positive regulation of isotype switching to IgG isotypesGO:04830410.2IFNG, IL4
3positive regulation of chemokine biosynthetic processGO:04508010.2IL4, IFNG
4positive regulation of osteoclast differentiationGO:04567210.1IFNG, IL17A
5negative regulation of growth of symbiont in hostGO:04413010.1TLR2, IFNG
6positive regulation of interleukin-12 biosynthetic processGO:04508410.0TLR4, IFNG
7interleukin-8-mediated signaling pathwayGO:03811210.0CXCR2, CXCR1
8cellular response to lipoteichoic acidGO:07122310.0TLR2, TLR4
9positive regulation of macrophage cytokine productionGO:06090710.0TLR2, TLR4
10positive regulation of tumor necrosis factor biosynthetic processGO:04253510.0TLR2, TLR4
11I-kappaB phosphorylationGO:0072529.9TLR4, TLR2
12positive regulation of nitric-oxide synthase biosynthetic processGO:0517709.9TLR4, TLR2
13negative regulation of osteoclast differentiationGO:0456719.9TLR4, IL4
14dendritic cell chemotaxisGO:0024079.9CXCR2, CXCR1
15positive regulation of chemokine productionGO:0327229.9TLR2, TLR4
16defense response to protozoanGO:0428329.9IFNG, IL4, IL4R
17positive regulation of MHC class II biosynthetic processGO:0453489.8TLR4, IFNG, IL4
18positive regulation of NF-kappaB import into nucleusGO:0423469.8TLR2, TLR4
19positive regulation of interleukin-8 productionGO:0327579.8TLR4, TLR2
20positive regulation of interferon-beta productionGO:0327289.8TLR2, TLR4
21positive regulation of interleukin-10 productionGO:0327339.8IL4, TLR4, TLR2
22positive regulation of cytokine production involved in inflammatory responseGO:19000179.8IL17A, IL17C
23negative regulation of interleukin-17 productionGO:0327009.7IFNG, TLR4, TLR2
24positive regulation of interleukin-12 productionGO:0327359.7IFNG, TLR4, TLR2
25positive regulation of nitric oxide biosynthetic processGO:0454299.7TLR2, TLR4, IFNG
26lipopolysaccharide-mediated signaling pathwayGO:0316639.7TLR4, TLR2
27cytokine-mediated signaling pathwayGO:0192219.7IFNG, STAT3, TYK2
28chemokine-mediated signaling pathwayGO:0700989.6CXCR2, CXCR1
29chemotaxisGO:0069359.6CXCR1, CXCR2, IL4
30negative regulation of tumor necrosis factor productionGO:0327209.6TLR4, TWIST1
31positive regulation of tumor necrosis factor productionGO:0327609.4TWIST1, IFNG, TLR4, TLR2
32receptor internalizationGO:0316239.3CXCR2, CXCR1
33cell surface receptor signaling pathwayGO:0071668.9CXCR1, CXCR2, IFNG, IL17C
34positive regulation of transcription from RNA polymerase II promoterGO:0459448.6TLR2, TLR4, STAT3, IFNG, IL4, IL17A
35inflammatory responseGO:0069548.6TLR2, CXCR1, CXCR2, IL17A, IL17C
36immune responseGO:0069558.5IGHE, TLR2, TLR4, IL4, IL17A, IL4R

Molecular functions related to Hyper Ige Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-8 receptor activityGO:0049189.7CXCR2, CXCR1
2interleukin-8 bindingGO:0199599.5CXCR2, CXCR1
3lipopolysaccharide receptor activityGO:0018759.3TLR2, TLR4
4cytokine activityGO:0051258.8IL17C, IL17A, IL4, IFNG
5protein bindingGO:0055157.3TLR2, TLR4, DOCK8, CXCR2, STAT3, IL4

Products for genes affiliated with Hyper Ige Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hyper Ige Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet