HIES
MCID: HYP458
MIFTS: 42

Hyper Ige Syndrome (HIES) malady

Categories: Rare diseases

Aliases & Classifications for Hyper Ige Syndrome

Aliases & Descriptions for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 50 29
Hyper-Ige Recurrent Infection Syndrome 50
Hyperimmunoglobulin E Syndrome 50
Hyper-Ige Syndrome 52
Job Syndrome 69
Hies 50

Classifications:



Summaries for Hyper Ige Syndrome

NIH Rare Diseases : 50 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 recurrent infection syndrome, is related to his bundle tachycardia and hyper-ige recurrent infection syndrome. An important gene associated with Hyper Ige Syndrome is PGM3 (Phosphoglucomutase 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Influenza A. 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 hematopoietic system and immune 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 112)
id Related Disease Score Top Affiliating Genes
1 his bundle tachycardia 12.1
2 hyper-ige recurrent infection syndrome 11.9
3 hyper-ige recurrent infection syndrome, autosomal recessive 11.9
4 immunodeficiency 35 11.1
5 dermatitis 10.2
6 stocco dos santos syndrome 10.1 IFNG IGHE
7 pleomorphic adenoma carcinoma 10.1 STAT3 TYK2
8 non-gestational choriocarcinoma 10.1 IFNG STAT3
9 myofibroma 10.1 IFNG IGHE
10 lymphoma 10.1
11 atopic dermatitis 10.1
12 bilateral retinoblastoma 10.0 DOCK8 IFNG STAT3
13 papillary squamous carcinoma 10.0 IGHE IL4
14 hypoparathyroidism, x-linked 10.0 IGHE IL4
15 luminal breast carcinoma 10.0 IGHE IL4
16 myoglobinuria recurrent 10.0 IFNG IL4
17 asymptomatic neurosyphilis 10.0 IFNG IL4
18 apricot allergy 10.0 IGHE IL4
19 autosomal dominant deafness-onychodystrophy syndrome 10.0 IFNG IL4
20 tungiasis 10.0 IFNG IL4
21 crustacean allergy 10.0 IFNG IL4
22 cortical dysplasia, complex, with other brain malformations 4 10.0 DOCK8 STAT3 TYK2
23 urethral intrinsic sphincter deficiency 10.0 IFNG IL4
24 bursitis 10.0 DOCK8 STAT3 TYK2
25 centronuclear myopathy 5 10.0 IFNG IL4
26 clostridium difficile colitis 10.0 IFNG IL4
27 acute gonococcal prostatitis 10.0 IFNG IL4
28 hypotrichosis 4 10.0 IFNG IL4
29 hematopoietic stem cell transplantation 10.0
30 osteodysplasty precocious of danks mayne and kozlowski 10.0 IFNG IL4
31 cutaneous fibrous histiocytoma 10.0 IFNG IL4
32 ovarian papillary cystadenoma 10.0 IFNG IL4
33 neurotic disorder 10.0 IFNG IL4
34 tularemia 10.0 IFNG IL4
35 ectodermal dysplasia bartalos type 10.0 IFNG IL4
36 immune-complex glomerulonephritis 10.0 IFNG IL4
37 oral cavity cancer 10.0 IFNG IL4
38 acute myeloid leukemia with recurrent genetic anomaly 10.0 IFNG IL4
39 abnormal retinal correspondence 10.0 IFNG IL4
40 red cell phospholipid defect with hemolysis 9.9 IFNG IL4
41 hydrophthalmos 9.9 IFNG IL4
42 orbital osteomyelitis 9.9 IFNG IL4
43 loiasis 9.9 IFNG IL4
44 eczematous dermatitis of eyelid 9.9 IFNG STAT3 TYK2
45 proximal symphalangism 9.9 IFNG IL4
46 aneurysm 9.9
47 pneumonia 9.9
48 molluscum contagiosum 9.9
49 myiasis 9.9 IFNG IL4
50 motor peripheral neuropathy 9.9 IFNG IL4

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



Diseases related to Hyper Ige Syndrome

Symptoms & Phenotypes for Hyper Ige Syndrome

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 DOCK8 IFNG IL4 PGM3 STAT3 TYK2
2 immune system MP:0005387 9.1 DOCK8 IFNG IL4 PGM3 STAT3 TYK2

Drugs & Therapeutics for Hyper Ige Syndrome

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

(show all 40)
id 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 Antiparasitic Agents Phase 3,Phase 2
11 Antiprotozoal Agents Phase 3,Phase 2
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
13
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
14
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
15 Immunoglobulins Phase 2,Phase 1
16 Antibodies Phase 2,Phase 1
17 Agglutinins Phase 2
18 Vaccines Phase 2
19 Anti-Bacterial Agents Phase 2
20 Liposomal amphotericin B Phase 2
21 Autoantibodies Phase 2
22
Bismuth Phase 2 7440-69-9 16682734 105143
23 Ranitidine bismuth citrate Phase 2
24
Histamine Phosphate Phase 2 51-74-1 65513
25 Gastrointestinal Agents Phase 2
26 Neurotransmitter Agents Phase 2
27 Histamine Antagonists Phase 2
28 Histamine H2 Antagonists Phase 2
29 Antacids Phase 2
30 Anti-Ulcer Agents Phase 2
31 Bismuth tripotassium dicitrate Phase 2
32 Citrate Nutraceutical Phase 2
33
Citric Acid Nutraceutical, Vet_approved Phase 2 77-92-9 311
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Anti-Allergic Agents Phase 1
36 Anti-Asthmatic Agents Phase 1
37 Respiratory System Agents Phase 1
38 Coagulase
39 Pulmonary Surfactants
40 Yellow Dock Nutraceutical

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Recruiting NCT02996448 Phase 2
3 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1
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 Role of Endotracheal Suction on the Occurrence of Meconium Aspiration Syndrome in Non-vigorous Meconium Stained Babies Completed NCT01758822
11 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
12 Study of Mycobacterial Infections Recruiting NCT00018044
13 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819
14 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
15 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
16 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
17 Role and Molecular Mechanism of Farnesoid X Receptor(FXR) and RIPK3 in the Formation of Acute Respiratory Distress Syndrome in Neonates Recruiting NCT02598648
18 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:

id Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29

Anatomical Context for Hyper Ige Syndrome

MalaCards organs/tissues related to Hyper Ige Syndrome:

39
Skin, Lung, T Cells, B Cells, Bone, Liver, Neutrophil

Publications for Hyper Ige Syndrome

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 239)
id Title Authors Year
1
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
2
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
3
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. ( 26659092 )
2016
4
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. ( 27799162 )
2016
5
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
6
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. ( 27091139 )
2016
7
B-cell-specific STAT3 deficiency: Insight into the molecular basis ofA autosomal-dominant hyper-IgE syndrome. ( 27423495 )
2016
8
Hyper-IgE syndrome with a novel mutation of the STAT3 gene. ( 27333819 )
2016
9
Liver abscess in a boy with hyper IgE syndrome. ( 27843873 )
2016
10
Autosomal Dominant Hyper IgE Syndrome - Treatment Strategies and Clinical Outcomes. ( 26743515 )
2016
11
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. ( 27226025 )
2016
12
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. ( 26592211 )
2016
13
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome. ( 27488252 )
2016
14
Hyper-IgE Syndrome in an Infant. ( 26801049 )
2016
15
Elucidating the effects of disease-causing mutations on STAT3 function in autosomal-dominant hyper-IgE syndrome. ( 27315770 )
2016
16
Quantitative defects in invariant NKT cells and TLR responses in patients with hyper-IgE syndrome. ( 25796310 )
2015
17
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. ( 26304966 )
2015
18
Giant Herpes Labialis in a Child with DOCK8-deficient Hyper-IgE Syndrome. ( 26148752 )
2015
19
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. ( 25962528 )
2015
20
Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort. ( 26293184 )
2015
21
Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome. ( 26453584 )
2015
22
Caring for children with hyper-IgE syndrome. ( 26166283 )
2015
23
Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation. ( 26687240 )
2015
24
Cerebral aneurysm in a 12-year-old boy with a STAT3 mutation (hyper-IgE syndrome). ( 25814298 )
2015
25
An 8 minute colorimetric paper-based reverse phase vertical flow serum microarray for screening of hyper IgE syndrome. ( 26365343 )
2015
26
Brain Abscess and Keratoacanthoma Suggestive of Hyper IgE Syndrome. ( 26060590 )
2015
27
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome. ( 26472314 )
2015
28
Recurrent Meningitis in Hyper IgE Syndrome. ( 25371145 )
2014
29
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation. ( 24628715 )
2014
30
Vertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome. ( 24197892 )
2014
31
Recurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation. ( 25379309 )
2014
32
A novel case of Hyper IgE syndrome combined with natural killer cell deficiency. ( 24571902 )
2014
33
A case of exuberant candidal onychomycosis in a child with hyper IgE syndrome. ( 24565777 )
2014
34
Hyper IgE syndrome. ( 24616862 )
2014
35
Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. ( 24627079 )
2014
36
Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome. ( 24402620 )
2014
37
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. ( 25518794 )
2014
38
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy. ( 25388448 )
2014
39
Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India. ( 25543043 )
2014
40
A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome. ( 24673638 )
2014
41
Clinical features, STAT3 gene mutations and Th17 cell analysis in nine children with hyper-IgE syndrome in mainland China. ( 23659370 )
2013
42
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. ( 24058807 )
2013
43
Lung function in hyper IgE syndrome. ( 22492690 )
2013
44
Psoriasis in hyper IgE syndrome - a case report. ( 24009971 )
2013
45
Renal abscess in hyper-IgE syndrome. ( 23374820 )
2013
46
Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome. ( 22992060 )
2013
47
Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation. ( 23020750 )
2013
48
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
49
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism. ( 23623265 )
2013
50
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. ( 23584561 )
2013

Variations for Hyper Ige Syndrome

ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del) deletion Pathogenic rs113994138 GRCh37 Chromosome 17, 40477056: 40477058
2 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh37 Chromosome 17, 40481661: 40481661
3 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh37 Chromosome 17, 40481660: 40481660
4 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh37 Chromosome 17, 40481441: 40481441
5 STAT3 STAT3, ARG383LEU single nucleotide variant Pathogenic
6 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
7 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
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 37)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 IFNG IGHE IL4 STAT3 TYK2
2
Show member pathways
12.53 IFNG IL4 STAT3 TYK2
3
Show member pathways
12.41 IFNG IGHE IL4
4
Show member pathways
12.36 IFNG STAT3 TYK2
5
Show member pathways
12.33 IFNG IL4 STAT3 TYK2
6 12.27 IFNG IL4 STAT3 TYK2
7
Show member pathways
12.12 IGHE IL4 STAT3 TYK2
8
Show member pathways
12.1 IFNG IL4 STAT3
9
Show member pathways
12.07 IFNG STAT3 TYK2
10 12.05 IFNG STAT3 TYK2
11
Show member pathways
11.94 IFNG IL4 STAT3 TYK2
12
Show member pathways
11.91 IFNG IL4 TYK2
13
Show member pathways
11.86 IFNG IL4 STAT3 TYK2
14
Show member pathways
11.72 IFNG STAT3 TYK2
15
Show member pathways
11.65 IFNG STAT3
16 11.51 IGHE IL4 STAT3 TYK2
17 11.47 IGHE IL4
18 11.46 IFNG STAT3 TYK2
19
Show member pathways
11.43 STAT3 TYK2
20 11.43 IFNG STAT3
21 11.4 STAT3 TYK2
22 11.35 STAT3 TYK2
23 11.32 IFNG IL4
24
Show member pathways
11.31 IFNG IL4 STAT3 TYK2
25 11.29 STAT3 TYK2
26 11.27 IL4 STAT3 TYK2
27 11.25 STAT3 TYK2
28
Show member pathways
11.22 STAT3 TYK2
29 11.17 STAT3 TYK2
30 11.14 IFNG IL4
31 11.12 IFNG IL4
32 11.08 IFNG IL4
33 11.05 IFNG STAT3
34 11 IFNG IL4
35
Show member pathways
10.93 IFNG IL4 STAT3 TYK2
36
Show member pathways
10.9 IFNG STAT3 TYK2
37 10.84 STAT3 TYK2

GO Terms for Hyper Ige Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 IFNG IGHE IL4

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

id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.5 IFNG IL4 STAT3
2 positive regulation of B cell activation GO:0050871 9.46 IGHE IL4
3 positive regulation of T cell proliferation GO:0042102 9.43 IFNG IL4
4 response to cytokine GO:0034097 9.4 IL4 STAT3
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.37 IFNG IL4
6 defense response to protozoan GO:0042832 9.26 IFNG IL4
7 positive regulation of chemokine biosynthetic process GO:0045080 9.16 IFNG IL4
8 positive regulation of isotype switching to IgG isotypes GO:0048304 8.96 IFNG IL4
9 positive regulation of MHC class II biosynthetic process GO:0045348 8.62 IFNG IL4

Sources for Hyper Ige Syndrome

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