Aliases & Classifications for Hyper Ige Syndrome

MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 49
Hyper-Ige Syndrome 36 28 51
Hyper-Ige Recurrent Infection Syndrome 49
Hyperimmunoglobulin E Syndrome 49
Hartnup Disease 69
Job Syndrome 69
H Disease 51
Hies 49

Classifications:



External Ids:

KEGG 36 H01968
UMLS 69 C3887645

Summaries for Hyper Ige Syndrome

NIH Rare Diseases : 49 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). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES. Last updated: 7/14/2015

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome, autosomal dominant and dermatitis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and p70S6K Signaling. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and t cells, and related phenotypes are digestive/alimentary and hematopoietic system

Related Diseases for Hyper Ige Syndrome

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome, autosomal dominant 33.4 DOCK8 STAT3 TYK2
2 dermatitis 29.8 IFNG IGHE IL4 STAT3
3 dermatitis, atopic 29.6 IFNG IGHE IL4 IL4R
4 renal cell carcinoma, nonpapillary 29.1 IFNG IL4 IL4R
5 food allergy 29.0 IFNG IL4
6 allergic hypersensitivity disease 28.9 IFNG IGHE IL4 IL4R
7 asthma 28.8 IFNG IGHE IL4 IL4R
8 hemoglobin h disease 12.5
9 his bundle tachycardia 12.3
10 hyper-ige recurrent infection syndrome, autosomal recessive 12.0
11 immunodeficiency 35 11.7
12 alpha-thalassemia myelodysplasia syndrome 11.2
13 leukocyte adhesion deficiency, type iii 11.1
14 immune suppression 10.3 IFNG STAT3
15 staphylococcal toxic shock syndrome 10.3 IFNG IGHE
16 mixed lacrimal gland cancer 10.3 STAT3 TYK2
17 peanut allergy 10.2 IFNG IGHE
18 lymphoma 10.2
19 egg allergy 10.2 IGHE IL4
20 immunodeficiency with hyper-igm, type 1 10.2 IGHE IL4
21 gastrointestinal allergy 10.2 IGHE IL4
22 latex allergy 10.2 IGHE IL4
23 beta-lactam allergy 10.1 IL4 IL4R
24 mycoplasmal pneumonia 10.1 IFNG IL4
25 hyperlucent lung 10.1 IFNG IL4
26 b-cell growth factor 10.1 IFNG IL4
27 baylisascariasis 10.1 IFNG IL4
28 hematopoietic stem cell transplantation 10.1
29 suppurative lymphadenitis 10.1 DOCK8 IFNG STAT3
30 orofacial granulomatosis 10.1 IFNG IL4
31 buruli ulcer 10.1 IFNG IL4
32 microscopic colitis 10.1 IFNG IL4
33 urinary schistosomiasis 10.1 IFNG IL4
34 folliculitis 10.1 IFNG IL4
35 poliomyelitis 10.1 IFNG IL4
36 primary systemic mycosis 10.1 IFNG IL4
37 vulvovaginal candidiasis 10.1 IFNG IL4
38 hyperimmunoglobulin syndrome 10.1 DOCK8 STAT3 TYK2
39 coccidiosis 10.1 IFNG IL4
40 eales disease 10.0 IFNG IL4
41 lichen disease 10.0 IFNG IL4
42 thalassemia 10.0
43 proliferative glomerulonephritis 10.0 IFNG IL4
44 cryptococcosis 10.0 IFNG IL4
45 paranasal sinus disease 10.0 IFNG IL4
46 rasmussen encephalitis 10.0 IFNG IL4
47 acute graft versus host disease 10.0 IFNG IL4
48 opportunistic mycosis 10.0 IFNG IL4
49 pneumonia 10.0
50 aneurysm 10.0

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



Diseases related to Hyper Ige Syndrome

Symptoms & Phenotypes for Hyper Ige Syndrome

UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 IFNG IL4 IL4R PGM3 STAT3
2 hematopoietic system MP:0005397 9.5 DOCK8 IFNG IL4 IL4R PGM3 STAT3
3 immune system MP:0005387 9.17 DOCK8 IFNG IL4 IL4R PGM3 STAT3

Drugs & Therapeutics for Hyper Ige Syndrome

Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Steroid Synthesis Inhibitors Phase 3
4 Cytochrome P-450 Enzyme Inhibitors Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anti-Infective Agents Phase 3,Phase 2
9 Antifungal Agents Phase 3,Phase 2
10 Antiprotozoal Agents Phase 3,Phase 2
11 Antiparasitic Agents Phase 3,Phase 2
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
13
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
14
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16 Immunoglobulins Phase 2,Phase 1
17 Antibodies Phase 2,Phase 1
18 Anti-Bacterial Agents Phase 2
19 Liposomal amphotericin B Phase 2
20 Autoantibodies Phase 2
21 Agglutinins Phase 2
22 Vaccines Phase 2
23
Bismuth Phase 2 7440-69-9 105143 16682734
24 Ranitidine bismuth citrate Phase 2
25
Histamine Phosphate Phase 2 51-74-1 65513
26 Gastrointestinal Agents Phase 2
27 Neurotransmitter Agents Phase 2
28 Histamine Antagonists Phase 2
29 Histamine H2 Antagonists Phase 2
30 Antacids Phase 2
31 Anti-Ulcer Agents Phase 2
32 Bismuth tripotassium dicitrate Phase 2
33 Citrate Nutraceutical Phase 2
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Respiratory System Agents Phase 1
36 Anti-Allergic Agents Phase 1
37 Anti-Asthmatic Agents Phase 1
38 Coagulase
39 Yellow Dock Nutraceutical

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
3 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
4 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Suspended NCT02996448 Phase 2 NDV-3A
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
10 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
11 Study of Mycobacterial Infections Recruiting NCT00018044
12 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819
13 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
14 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
15 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
16 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
17 Genetic Analysis of Immune Disorders Enrolling by invitation NCT00001467

Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 28

Anatomical Context for Hyper Ige Syndrome

MalaCards organs/tissues related to Hyper Ige Syndrome:

38
Skin, Lung, T Cells, Bone, Bone Marrow, B Cells, Liver

Publications for Hyper Ige Syndrome

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 257)
# Title Authors Year
1
Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation. ( 29368105 )
2018
2
Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. ( 29419892 )
2018
3
Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation. ( 28167354 )
2017
4
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. ( 28203787 )
2017
5
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. ( 28315006 )
2017
6
Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome. ( 28587312 )
2017
7
Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome. ( 29093656 )
2017
8
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin Positive S. aureus Mimic Hyper IgE Syndrome in an Infant. ( 28938255 )
2017
9
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
10
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. ( 28197791 )
2017
11
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. ( 28562253 )
2017
12
Hyper IgE Syndrome and Renal Cell Carcinoma. ( 28607797 )
2017
13
Acute cardiac disease in a patient with hyper-IgE syndrome. ( 28884991 )
2017
14
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. ( 29269803 )
2017
15
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. ( 28902078 )
2017
16
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. ( 28803389 )
2017
17
Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome. ( 28643229 )
2017
18
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. ( 28939137 )
2017
19
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
20
Pediatric anaphylaxis and hyper IgE syndrome. ( 28280372 )
2017
21
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. ( 27488252 )
2016
22
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. ( 26592211 )
2016
23
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. ( 27091139 )
2016
24
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. ( 27315770 )
2016
25
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
26
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. ( 26659092 )
2016
27
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. ( 27799162 )
2016
28
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. ( 27423495 )
2016
29
Liver abscess in a boy with hyper IgE syndrome. ( 27843873 )
2016
30
Hyper-IgE Syndrome in an Infant. ( 26801049 )
2016
31
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. ( 27333819 )
2016
32
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. ( 27226025 )
2016
33
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. ( 26743515 )
2016
34
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. ( 25796310 )
2015
35
Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome. ( 26060590 )
2015
36
An 8 minute colorimetric paper-based reverse phase vertical flow serum microarray for screening of hyper IgE syndrome. ( 26365343 )
2015
37
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome. ( 26472314 )
2015
38
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. ( 26304966 )
2015
39
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. ( 26687240 )
2015
40
Caring for children with hyper-IgE syndrome. ( 26166283 )
2015
41
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. ( 25962528 )
2015
42
Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. ( 26293184 )
2015
43
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. ( 26148752 )
2015
44
Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome). ( 25814298 )
2015
45
Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome. ( 26453584 )
2015
46
Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India. ( 25543043 )
2014
47
Recurrent Meningitis in Hyper IgE Syndrome. ( 25371145 )
2014
48
Hyper IgE syndrome. ( 24616862 )
2014
49
Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. ( 24627079 )
2014
50
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. ( 25518794 )
2014

Variations for Hyper Ige Syndrome

ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
2 STAT3 NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del) deletion Pathogenic rs113994138 GRCh37 Chromosome 17, 40477056: 40477058
3 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh37 Chromosome 17, 40481661: 40481661
4 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh37 Chromosome 17, 40481660: 40481660
5 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh37 Chromosome 17, 40481441: 40481441
6 STAT3 STAT3, ARG383LEU single nucleotide variant Pathogenic
7 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
8 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh37 Chromosome 17, 40481639: 40481639
9 PGM3 NM_015599.2(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
10 PGM3 NM_015599.2(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
11 PGM3 NM_001199917.1(PGM3): c.1102_1104delGAA (p.Glu368del) deletion Pathogenic rs267608259 GRCh38 Chromosome 6, 83178682: 83178684

Expression for Hyper Ige Syndrome

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

Pathways for Hyper Ige Syndrome

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

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 IFNG IGHE IL4 IL4R STAT3 TYK2
2
Show member pathways
12.86 IL4 IL4R STAT3 TYK2
3 12.64 IFNG IL4 IL4R STAT3
4
Show member pathways
12.6 IFNG IL4 STAT3 TYK2
5
Show member pathways
12.58 IL4 IL4R STAT3 TYK2
6
Show member pathways
12.43 IFNG IGHE IL4 IL4R
7 12.36 IFNG IL4 STAT3 TYK2
8
Show member pathways
12.3 IFNG IL4 IL4R STAT3 TYK2
9
Show member pathways
12.16 IFNG IL4 STAT3
10
Show member pathways
12.13 IFNG STAT3 TYK2
11 12.12 IFNG STAT3 TYK2
12
Show member pathways
12.05 IFNG IL4 STAT3 TYK2
13
Show member pathways
12.04 IFNG STAT3 TYK2
14
Show member pathways
12.04 IGHE IL4 IL4R STAT3 TYK2
15
Show member pathways
11.97 IFNG IL4 TYK2
16
Show member pathways
11.93 IFNG IL4 IL4R STAT3 TYK2
17
Show member pathways
11.75 IFNG STAT3 TYK2
18
Show member pathways
11.69 IFNG STAT3
19
Show member pathways
11.68 IFNG IL4 STAT3 TYK2
20 11.64 IFNG IL4R STAT3 TYK2
21 11.5 IGHE IL4 IL4R
22 11.41 IL4R STAT3
23 11.41 IGHE IL4 IL4R STAT3 TYK2
24 11.38 STAT3 TYK2
25 11.38 IL4 STAT3 TYK2
26 11.37 HBA2 IFNG
27 11.33 IFNG IL4 IL4R
28 11.32 STAT3 TYK2
29 11.27 STAT3 TYK2
30
Show member pathways
11.26 STAT3 TYK2
31 11.21 HBA2 IFNG
32 11.2 STAT3 TYK2
33 11.16 IFNG IL4
34 11.15 IFNG IL4 IL4R
35 11.12 IFNG IL4
36 11.08 IFNG STAT3
37 11.04 IFNG IL4
38 10.98 IFNG STAT3 TYK2
39
Show member pathways
10.98 IFNG IL4 IL4R STAT3 TYK2
40 10.89 STAT3 TYK2
41 10.82 IL4 IL4R
42 10.65 IL4 IL4R

GO Terms for Hyper Ige Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.26 IFNG IGHE IL4 IL4R
2 interleukin-12-mediated signaling pathway GO:0035722 8.8 IFNG STAT3 TYK2

Sources for Hyper Ige Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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