AD-HIES
MCID: HYP345
MIFTS: 54

Hyper-Ige Recurrent Infection Syndrome (AD-HIES) malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases, Bone diseases

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome

Aliases & Descriptions for Hyper-Ige Recurrent Infection Syndrome:

Name: Hyper-Ige Recurrent Infection Syndrome 54 13
Job Syndrome 12 24 25 56 66 42 69
Ad-Hies 23 50 24 25 56 66
Stat3 Deficiency 23 24 25 56
Job's Syndrome 12 24 25 14
Autosomal Dominant Hyper Ige Syndrome 23 50 24
Stat3-Deficient Hyper Ige Syndrome 23 24 25
Buckley Syndrome 25 56 66
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 50 66
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 54 69
Autosomal Dominant Hyper-Ige Syndrome 25 56
Hyperimmunoglobulin E Syndrome Type 1 56 66
Hyperimmunoglobulin E Syndrome 12 29
Hies Autosomal Dominant 50 66
Autosomal Dominant Hies 25 56
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 25
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 25
Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant 66
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 69
Hyperimmunoglobulin E-Recurrent Infection Syndrome 56
Autosomal Dominant Hyperimmunoglobulin E Syndrome 56
Hyper Ig E Syndrome, Autosomal Dominant 50
Hyper-Ige Syndrome Autosomal Dominant 66
Stat3 Deficient Hyper Ige Syndrome 24
Ad Hyperimmunoglobulin E Syndrome 50
Job Syndrome Autosomal Dominant 50
Autosomal Dominant Job Syndrome 25
Job-Buckley Syndrome 25
Job’s Syndrome 23

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant hyper-ige syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

GeneReviews:

23
hyper-ige recurrent infection syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


GeneReviews:

23
Penetrance Intrafamilial variability is minimal and penetrance appears to be complete...

Classifications:



External Ids:

OMIM 54 147060
Disease Ontology 12 DOID:3261
MeSH 42 D007589
Orphanet 56 ORPHA2314
ICD10 via Orphanet 34 D82.4
UMLS via Orphanet 70 C2936739 C3489795
ICD10 33 D82.4

Summaries for Hyper-Ige Recurrent Infection Syndrome

NIH Rare Diseases : 50 autosomal dominant hyper ige syndrome (ad-hies), formerly known as job syndrome, affects several body systems including the immune system. ad-hies is characterized by abnormally high levels of an immune system protein called immunoglobulin e (ige) in the blood.  signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. the eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. some cases of ad-hies are caused by mutations in the stat3 gene. in other cases, the cause is unknown. last updated: 7/14/2015

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome, also known as job syndrome, is related to hyper-ige recurrent infection syndrome, autosomal recessive and hyper ige syndrome, and has symptoms including pruritus, fever and osteopenia. An important gene associated with Hyper-Ige Recurrent Infection Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Influenza A. The drugs Dopamine and Haloperidol have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are hematopoietic system and immune system

UniProtKB/Swiss-Prot : 66 Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant: A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eczema, recurrent Staphylococcal infections, increased serum IgE, eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.

Genetics Home Reference : 25 Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. These infections often result in the formation of air-filled cysts (pneumatoceles) in the lungs. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.

OMIM : 54 Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema,... (147060) more...

GeneReviews: NBK25507

Related Diseases for Hyper-Ige Recurrent Infection Syndrome

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



Diseases related to Hyper-Ige Recurrent Infection Syndrome

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome

Symptoms by clinical synopsis from OMIM:

147060

Clinical features from OMIM:

147060

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 fever 56 32 Occasional (29-5%) HP:0001945
3 osteopenia 56 32 Frequent (79-30%) HP:0000938
4 scoliosis 56 32 Frequent (79-30%) HP:0002650
5 chronic otitis media 56 32 Frequent (79-30%) HP:0000389
6 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
7 generalized abnormality of skin 56 32 Very frequent (99-80%) HP:0011354
8 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
9 prominent forehead 56 32 Frequent (79-30%) HP:0011220
10 cleft palate 56 32 Frequent (79-30%) HP:0000175
11 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
12 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
13 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
14 deeply set eye 56 32 Frequent (79-30%) HP:0000490
15 atelectasis 56 32 Very frequent (99-80%) HP:0100750
16 osteomyelitis 56 32 Occasional (29-5%) HP:0002754
17 gingivitis 56 32 Frequent (79-30%) HP:0000230
18 recurrent fractures 56 32 Frequent (79-30%) HP:0002757
19 skin rash 56 32 Very frequent (99-80%) HP:0000988
20 cellulitis 56 32 Occasional (29-5%) HP:0100658
21 cough 56 32 Frequent (79-30%) HP:0012735
22 eczema 56 32 Very frequent (99-80%) HP:0000964
23 lymphoma 56 32 Occasional (29-5%) HP:0002665
24 craniosynostosis 56 32 Occasional (29-5%) HP:0001363
25 papule 56 32 Frequent (79-30%) HP:0200034
26 abnormality of the hair 56 32 Frequent (79-30%) HP:0001595
27 aneurysm 56 32 Occasional (29-5%) HP:0002617
28 skin vesicle 56 32 Occasional (29-5%) HP:0200037
29 eosinophilia 56 32 Frequent (79-30%) HP:0001880
30 dystrophic fingernails 56 32 Frequent (79-30%) HP:0008391
31 paronychia 56 32 Frequent (79-30%) HP:0001818
32 increased ige level 56 32 Very frequent (99-80%) HP:0003212
33 hypertelorism 32 HP:0000316
34 frontal bossing 32 HP:0002007
35 high palate 32 HP:0000218
36 coarse facial features 32 HP:0000280
37 abnormality of the teeth 56 Frequent (79-30%)
38 abnormality of the face 56 Frequent (79-30%)
39 joint hypermobility 32 HP:0001382
40 recurrent infections 56 Very frequent (99-80%)
41 wide nose 32 HP:0000445
42 recurrent fungal infections 32 HP:0002841
43 persistence of primary teeth 32 HP:0006335
44 recurrent sinopulmonary infections 32 HP:0005425
45 eczematoid dermatitis 32 HP:0000976
46 recurrent staphylococcus aureus infections 32 HP:0002726

MGI Mouse Phenotypes related to Hyper-Ige Recurrent Infection Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 STK4 TYK2 DOCK8 IL17A IRAK4 STAT3
2 immune system MP:0005387 9.1 DOCK8 IL17A IRAK4 STAT3 STK4 TYK2

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome

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

(show top 50) (show all 138)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 1 51-61-6, 62-31-7 681
2
Haloperidol Approved Phase 4,Phase 1 52-86-8 3559
3
Risperidone Approved, Investigational Phase 4,Phase 1 106266-06-2 5073
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5
Cilostazol Approved Phase 4 73963-72-1 2754
6
Fluphenazine Approved Phase 4 69-23-8 3372
7
Fluspirilene Approved Phase 4 1841-19-6 3396
8
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
9
Perphenazine Approved Phase 4 58-39-9 4748
10
Pimozide Approved Phase 4 2062-78-4 16362
11
Sulpiride Approved Phase 4 15676-16-1 5355
12
Ziprasidone Approved Phase 4 146939-27-7 60854
13
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
14 Autonomic Agents Phase 4,Phase 1
15 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
17 Antiemetics Phase 4,Phase 1
18 Antipsychotic Agents Phase 4,Phase 1
19 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
20 Dopamine Agents Phase 4,Phase 1
21 Dopamine Antagonists Phase 4,Phase 1
22 Gastrointestinal Agents Phase 4,Phase 2,Phase 1
23 Haloperidol decanoate Phase 4,Phase 1
24 Psychotropic Drugs Phase 4,Phase 3,Phase 1
25
Serotonin Phase 4,Phase 1 50-67-9 5202
26 Serotonin Agents Phase 4,Phase 1
27 Serotonin Antagonists Phase 4,Phase 1
28 Tranquilizing Agents Phase 4,Phase 3,Phase 1
29 Anti-Asthmatic Agents Phase 4,Phase 1
30 Respiratory System Agents Phase 4,Phase 1
31 Bronchodilator Agents Phase 4
32 Fibrinolytic Agents Phase 4
33 Neuroprotective Agents Phase 4
34 Phosphodiesterase 3 Inhibitors Phase 4
35 Phosphodiesterase Inhibitors Phase 4
36 Platelet Aggregation Inhibitors Phase 4
37 Protective Agents Phase 4
38 Purinergic P2 Receptor Antagonists Phase 4
39 Purinergic P2Y Receptor Antagonists Phase 4
40 Vasodilator Agents Phase 4
41 Antidepressive Agents Phase 4
42 Antidepressive Agents, Second-Generation Phase 4
43 Benperidol Phase 4
44 bromperidol Phase 4
45 Clopenthixol Phase 4
46 Dopamine D2 Receptor Antagonists Phase 4
47 Fluphenazine depot Phase 4
48 Fluphenazine enanthate Phase 4
49 Neurotransmitter Uptake Inhibitors Phase 4
50 Paliperidone Palmitate Phase 4

Interventional clinical trials:

(show top 50) (show all 63)
id Name Status NCT ID Phase
1 Efficacy and Safety of Adjunctive Cilostazol in Acute Myocardial Infarction Patients Recruiting NCT01261832 Phase 4
2 Evaluation of the Necessity of Long-term Pharmacological Treatment With Antipsychotics in Schizophrenic Patients Active, not recruiting NCT02307396 Phase 4
3 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3
4 Antibiotic Treatment of Gulf War Veterans' Illnesses Completed NCT00007735 Phase 3
5 Perioperative Pregabalin and Lidocaine to Reduce Chronic Breast Cancer Pain Active, not recruiting NCT02240199 Phase 3
6 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Recruiting NCT02996448 Phase 2
7 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2
8 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
9 Expanding HIV Testing and Prevention to Reach Vulnerable Young Women Recruiting NCT02974998 Phase 2
10 Decitabine Versus Azacitidine in Myelodysplastic Syndrome Patients With Low and Intermediate-1 Risk Active, not recruiting NCT01720225 Phase 2
11 Combination Study of Cytarabine and Tosedostat in Acute Myeloid Leukemia (AML) or High Risk Myelodysplastic Syndromes (MDS) Active, not recruiting NCT01636609 Phase 1, Phase 2
12 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2
13 Typical Versus Atypical Antipsychotics; Occupation of Striatal Receptors and the Appearance of Extrapyramidal Symptomatology, in Healthy Volunteers Unknown status NCT01259973 Phase 1
14 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1
15 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
16 Safety of and Immune Response to an Adenoviral HIV Vaccine (VRC-HIVADV014-00-VP) With or Without a Plasmid HIV Vaccine (VRC-HIVDNA016-00-VP) in HIV Uninfected Adults Completed NCT00124007 Phase 1
17 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
18 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884
19 Effectiveness Study of Integrative Treatment for Pediatric Community Acquired Pneumonia Unknown status NCT02362906
20 Influence of Light Therapy on Confusion in Patients at the Intensive Care Unit Unknown status NCT01343433
21 A Trial of Clay Weight on the Ear Drum for Patulous Eustachian Tube Unknown status NCT00933478
22 Effect of Different Working Conditions on Risk Factors in Dentists Versus Trainers Unknown status NCT00521235
23 Critical Care Excellence in Sepsis and Trauma Unknown status NCT01426711
24 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
25 Effectiveness of Physical Therapy Program to Treat Rotator Cuff Disorders Among Nursing Professionals Completed NCT01465932
26 Sleep Disorders Management, Health and Safety in Police Completed NCT00207285
27 Case-control Study on Individual Risk Factors of CTS Completed NCT03166033
28 Effectiveness of an Intervention for Prevention and Treatment of Burnout in Primary Care Completed NCT01870154
29 Level of Burn Out of Surgical Residents Working in All Hospitals of Lahore Completed NCT02206139
30 Level of Burn Out of Surgical Residents Working in Government Hospitals of Lahore Completed NCT02204592
31 Comprehensive Police Fatigue Management Program Completed NCT00246051
32 Fire Fighter Fatigue Management Program: Operation Healthy Sleep Completed NCT01988129
33 Health Protection & Promotion for Oregon Correctional Officers Completed NCT02098603
34 Stress Free Now, a Mind-body Reduction Program for Nurses Completed NCT01796054
35 The Effects of Work Schedule and Sleep Patterns on Caregivers' Health Completed NCT01443156
36 Inflammation and Glycation in a General Adult Population Completed NCT01796184
37 Can we Reduce Hospital Attendance Without Compromising Care by the Use of Telephone Consultation Completed NCT00129701
38 Risk Assessment of Long-Haul Truck Drivers Completed NCT00381992
39 Frequency of Parenteral and Non-Parenteral Exposures to Blood Among Healthcare Workers at the Clinical Center, NIH and at Seven Academic Hospitals in Japan Completed NCT00001712
40 Community-Based Peer Facilitator Intervention Completed NCT02496793
41 Integration of HIV Care and Treatment Into Antenatal Care in Migori District, Kenya Completed NCT00931216
42 Motiv82Change: an HIV Prevention Study for Young Latino Men Completed NCT00877695
43 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
44 Study of Mycobacterial Infections Recruiting NCT00018044
45 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
46 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819
47 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
48 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
49 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
50 Cardiovascular Risk Prevention Among Night Workers Recruiting NCT02899442

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome

Cochrane evidence based reviews: job syndrome

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome 29
2 Autosomal Dominant Hyper Ige Syndrome 24 STAT3

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome:

39
Bone, Skin, Lung, Eye

Publications for Hyper-Ige Recurrent Infection Syndrome

Articles related to Hyper-Ige Recurrent Infection Syndrome:

id Title Authors Year
1
Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography. ( 19933621 )
2009
2
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. ( 17098478 )
2007

Variations for Hyper-Ige Recurrent Infection Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome:

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 STAT3 p.Arg382Leu VAR_037365 rs113994136
2 STAT3 p.Arg382Gln VAR_037366 rs113994136
3 STAT3 p.Arg382Trp VAR_037367 rs113994135
4 STAT3 p.Phe384Leu VAR_037368
5 STAT3 p.Phe384Ser VAR_037369
6 STAT3 p.Thr389Ile VAR_037370 rs397514766
7 STAT3 p.Arg423Gln VAR_037371 rs113994137
8 STAT3 p.His437Tyr VAR_037372
9 STAT3 p.Ser611Asn VAR_037375
10 STAT3 p.Phe621Val VAR_037376
11 STAT3 p.Thr622Ile VAR_037377
12 STAT3 p.Val637Leu VAR_037378
13 STAT3 p.Val637Met VAR_037379 rs113994139
14 STAT3 p.Tyr657Cys VAR_037381 rs193922721

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome:

6 (show all 13)
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.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh37 Chromosome 17, 40485737: 40485737
8 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
9 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh37 Chromosome 17, 40475138: 40475138
10 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh37 Chromosome 17, 40475130: 40475130
11 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh37 Chromosome 17, 40474431: 40474431
12 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh37 Chromosome 17, 40469210: 40469210
13 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh37 Chromosome 17, 40481639: 40481639

Expression for Hyper-Ige Recurrent Infection Syndrome

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome.

Pathways for Hyper-Ige Recurrent Infection Syndrome

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

(show all 24)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13 IL17A IRAK4 STAT3 TYK2
2
Show member pathways
12.47 IRAK4 STAT3 TYK2
3
Show member pathways
12.24 IL17A STAT3 TYK2
4
Show member pathways
12.22 IL17A STAT3 TYK2
5
Show member pathways
11.82 IRAK4 STAT3 TYK2
6
Show member pathways
11.67 STAT3 TYK2
7
Show member pathways
11.58 IL17A STAT3
8
Show member pathways
11.54 STAT3 TYK2
9 11.49 IL17A STAT3 TYK2
10 11.42 IL17A IRAK4 STAT3 TYK2
11 11.41 STAT3 TYK2
12 11.4 IRAK4 STAT3
13
Show member pathways
11.36 IL17A STAT3 TYK2
14
Show member pathways
11.33 STAT3 TYK2
15 11.3 STAT3 TYK2
16 11.25 STAT3 TYK2
17 11.23 STAT3 TYK2
18 11.14 STAT3 TYK2
19
Show member pathways
11.14 IL17A STAT3 TYK2
20 11.09 STAT3 TYK2
21
Show member pathways
11.05 STAT3 TYK2
22 10.98 STAT3 TYK2
23
Show member pathways
10.87 STAT3 TYK2
24 10.6 STAT3 TYK2

GO Terms for Hyper-Ige Recurrent Infection Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.13 IRAK4 STK4 TYK2
2 phosphorylation GO:0016310 8.92 IRAK4 STAT3 STK4 TYK2

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.8 IRAK4 STK4 TYK2

Sources for Hyper-Ige Recurrent Infection 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
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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