MCID: HYP847
MIFTS: 44

Hyper Ige Recurrent Infection Syndrome 1

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

Aliases & Classifications for Hyper Ige Recurrent Infection Syndrome 1

MalaCards integrated aliases for Hyper Ige Recurrent Infection Syndrome 1:

Name: Hyper Ige Recurrent Infection Syndrome 1 12
Job's Syndrome 12 15
Job Syndrome 12 43
Hyperimmunoglobulin E Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3261
MeSH 43 D007589
NCIt 49 C126342
UMLS 71 C1968689 C2936739

Summaries for Hyper Ige Recurrent Infection Syndrome 1

Disease Ontology : 12 A hyper IgE syndrome that has material basis in heterozygous mutation in the STAT3 gene on chromosome 17q21.

MalaCards based summary : Hyper Ige Recurrent Infection Syndrome 1, also known as job's syndrome, is related to hyper ige syndrome and suppurative lymphadenitis. An important gene associated with Hyper Ige Recurrent Infection Syndrome 1 is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and skin, and related phenotypes are Reduced mammosphere formation and hematopoietic system

Related Diseases for Hyper Ige Recurrent Infection Syndrome 1

Diseases in the Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant family:

Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive Hyper Ige Recurrent Infection Syndrome 2
Hyper Ige Recurrent Infection Syndrome 3 Hyper Ige Recurrent Infection Syndrome 4
Hyper Ige Recurrent Infection Syndrome 1

Diseases related to Hyper Ige Recurrent Infection Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 410)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 33.5 STAT3 PGM3 DOCK8
2 suppurative lymphadenitis 30.3 DOCK8 CD4 CCR6
3 esophageal candidiasis 30.1 CD4 CCR6 CARD9
4 lung abscess 30.1 STAT3 IL6 DOCK8 CD4
5 aortitis 29.9 IL6 IL17A
6 childhood type dermatomyositis 29.9 IL6 CD4 CCR6
7 osteomyelitis 29.7 STAT1 IL6 IL10
8 otitis media 29.7 IL6 IL17A IL10
9 chlamydia 29.7 IL6 IL17A IL10
10 histoplasmosis 29.7 STAT1 CLEC7A CD4 CCR6
11 aggressive periodontitis 29.6 IL6 IL17A IL10
12 periodontitis 29.6 IL6 IL17A IL10
13 chediak-higashi syndrome 29.6 IL10 CD4 CCR6
14 ileus 29.6 IL6 IL17A IL10
15 endocarditis 29.5 IL6 IL17A IL10
16 blepharitis 29.5 STAT1 IL6 CD4 CCR6
17 gastritis 29.5 IL6 IL17A IL10 CCR6
18 exanthem 29.5 IL6 IL10 CD4 CCR6
19 endophthalmitis 29.4 IL6 CD4 CARD9
20 cholangitis 29.4 IL6 IL17A IL10
21 pulmonary tuberculosis 29.4 IL6 IL17A IL10
22 bronchopneumonia 29.4 IL6 IL10 CD4
23 pneumonia 29.4 IL6 IL22 IL17A IL10
24 cryptococcosis 29.3 IL17A IL10 CLEC7A CD4 CCR6
25 lymphadenitis 29.3 STAT3 IL10 CD4 CCR6
26 aspergillosis 29.3 STAT3 IL6 IL10 CLEC7A CCR6
27 keratitis, hereditary 29.2 IL6 IL17A IL10 CD4 CCR6
28 acquired immunodeficiency syndrome 29.2 IL6 IL10 CD4 CCR6
29 thrombocytopenia 29.0 STAT3 STAT1 IL6 IL17A IL10
30 dermatitis 29.0 STAT3 IL6 IL17A IL10 CCR6
31 common cold 29.0 IL6 IL17A IL10 CD4 CCR6
32 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 28.9 STAT1 IL17A IL10 DOCK8 CD4 CCR6
33 stomatitis 28.9 IL6 IL10 CD4
34 combined t cell and b cell immunodeficiency 28.8 STAT3 IL6 IL10 DOCK8 CD4 CCR6
35 dermatitis, atopic 28.7 STAT3 STAT1 IL6 IL17F IL17A IL10
36 cutaneous candidiasis 28.7 IL17RC IL17RA IL17F IL17A CLEC7A CCR6
37 bacterial infectious disease 28.7 IL6 IL17A IL10 CD4 CCR6
38 mycobacterium tuberculosis 1 28.7 STAT1 IL17A IL10 CLEC7A CD4 CCR6
39 crohn's disease 28.5 STAT3 IL6 IL22 IL17A IL10 CD4
40 immune deficiency disease 28.5 STAT1 IL6 IL10 CD4 CCR6
41 severe combined immunodeficiency 28.4 TYK2 PGM3 IL6 IL17A IL10 CD4
42 oral candidiasis 28.4 STAT1 IL17RA IL17F IL17A CLEC7A CD4
43 candidiasis 26.0 STAT3 STAT1 RORC IL6 IL22 IL17RC
44 chronic mucocutaneous candidiasis 24.1 ZNF341 TYK2 STAT3 STAT1 RORC IL6
45 hyper-ige recurrent infection syndrome 1, autosomal dominant 13.0
46 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.9
47 obsolete: autosomal recessive hyper-ige syndrome 11.7
48 dock8 immunodeficiency syndrome 11.4
49 autoimmune enteropathy 10.5 STAT3 IL17A
50 acute generalized exanthematous pustulosis 10.3 IL22 IL17F IL17A

Graphical network of the top 20 diseases related to Hyper Ige Recurrent Infection Syndrome 1:



Diseases related to Hyper Ige Recurrent Infection Syndrome 1

Symptoms & Phenotypes for Hyper Ige Recurrent Infection Syndrome 1

GenomeRNAi Phenotypes related to Hyper Ige Recurrent Infection Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CCR6 CLEC7A IL17A IL17RC RORC STAT1

MGI Mouse Phenotypes related to Hyper Ige Recurrent Infection Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 CARD9 CCR6 CD4 CLEC7A DOCK8 IL10
2 digestive/alimentary MP:0005381 10.02 CD4 CLEC7A IL10 IL17A IL17F IL6
3 homeostasis/metabolism MP:0005376 10 CARD9 CCR6 CD4 CLEC7A IL10 IL17A
4 immune system MP:0005387 9.86 CARD9 CCR6 CD4 CLEC7A DOCK8 IL10
5 respiratory system MP:0005388 9.17 CLEC7A IL10 IL17A IL17F IL17RA IL6

Drugs & Therapeutics for Hyper Ige Recurrent Infection Syndrome 1

Drugs for Hyper Ige Recurrent Infection Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Anti-Infective Agents Phase 3
4 Antiparasitic Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Antifungal Agents Phase 3
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Hormone Antagonists Phase 3
9 Steroid Synthesis Inhibitors Phase 3
10 Hormones Phase 3
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Sodium citrate Approved, Investigational Phase 2 68-04-2
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15 Immunoglobulins Phase 2
16 Antibodies Phase 2
17 Vaccines Phase 2
18 Immunologic Factors Phase 2
19 Agglutinins Phase 2
20 Anti-Bacterial Agents Phase 2
21 Liposomal amphotericin B Phase 2
22 Autoantibodies Phase 2
23 Gastrointestinal Agents Phase 2
24 Neurotransmitter Agents Phase 2
25 Anti-Ulcer Agents Phase 2
26
Histamine Phosphate Phase 2 51-74-1 65513
27 Bismuth tripotassium dicitrate Phase 2
28 Histamine H2 Antagonists Phase 2
29 Citrate Phase 2
30 Histamine Antagonists Phase 2
31 Ranitidine bismuth citrate Phase 2
32
Bismuth Phase 2 7440-69-9 16682734 105143
33 Antacids Phase 2
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Respiratory System Agents Phase 1
36 Anti-Asthmatic Agents Phase 1
37 Anti-Allergic Agents Phase 1
38 Anti-Inflammatory Agents
39 Yellow Dock
40 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Active, not recruiting NCT02629419 Phase 2 Amphotericin B
4 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Efficacy 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 Exhaled Breath Condensate as a Measurement of Airway Inflammation in Children With Asthma Completed NCT00078208
10 Cognitive Function in Leukocyte Disorders Completed NCT00005933
11 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
12 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
13 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
14 NIH Participation to USIDNET Registry Recruiting NCT01953016
15 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Recurrent Infection Syndrome 1

Cochrane evidence based reviews: job syndrome

Genetic Tests for Hyper Ige Recurrent Infection Syndrome 1

Anatomical Context for Hyper Ige Recurrent Infection Syndrome 1

MalaCards organs/tissues related to Hyper Ige Recurrent Infection Syndrome 1:

40
Bone, T Cells, Skin, B Cells, Lung, Eye, Bone Marrow

Publications for Hyper Ige Recurrent Infection Syndrome 1

Articles related to Hyper Ige Recurrent Infection Syndrome 1:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Job's Syndrome: A Rare Case Report. 61
32019325 2020
2
A new manifestation of Job's syndrome in the orofacial region. 61
31668864 2020
3
Hyper-IgE in the allergy clinic--when is it primary immunodeficiency? 61
30043993 2018
4
Report of Massive Bleed after Chest-drain Insertion in a Case of Job's (hyper-IgE) Syndrome. 61
30443121 2018
5
TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome. 61
30035749 2018
6
Fatal Talaromyces marneffei Infection in a Patient with Autoimmune Hepatitis. 61
29349620 2018
7
Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions. 61
29406845 2018
8
Retraction note: A Boy with Relentless Pruritus: Job's Syndrome. 61
28695886 2017
9
Herpes Simplex Virus and Human Papillomavirus Coinfections in Hyperimmunoglobulin E Syndrome Presenting as a Conjunctival Mass Lesion. 61
29158737 2017
10
Oral Manifestations of Job's Syndrome in a Paediatric Dental Patient - A Case Report. 61
28050511 2016
11
Fraternal twins with job's syndrome and immune complex nephritis. 61
28509165 2016
12
A Boy with Relentless Pruritus: Job's Syndrome. 61
26897360 2016
13
A Twenty-Three-Year-Old Man with a Chronic Anterior Chest Wall Wound, Eosinophilia, and Elevated IgE-Job's Syndrome. 61
27159513 2015
14
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. 61
25518794 2014
15
A new case of Job's syndrome at the clinic: a diagnostic challenge. 61
24560409 2014
16
[Job's syndrome and miliary tuberculosis]. 61
25188660 2014
17
Job's syndrome presenting with a tension pneumothorax and a lung abscess. 61
25432646 2014
18
Hyperimmunoglobulin E syndrome with persistent vertebral osteomyelitis due to methicillin-resistant Staphylococcus aureus: Case report and review of the literature. 61
26839768 2014
19
Job's syndrome with an atypical presentation. 61
24392534 2013
20
Do you know this syndrome? 61
24173199 2013
21
Serum free light chains as predictors of lymphomagenesis in patients with autosomal dominant hyper-immunoglobulin E syndrome (Job's syndrome). 61
23039380 2013
22
Free light chain assay: doing a "good job" in Job's syndrome. 61
23101694 2013
23
Safety of major abdominal surgical procedures in patients with hyperimmunoglobulinemia E (Job's syndrome): a changing paradigm? 61
23188219 2013
24
Rectal histoplasmosis in Job's syndrome. 61
23151895 2013
25
An update on the hyper-IgE syndromes. 61
23210525 2012
26
Multilocus variable-number tandem-repeat analysis-confirmed emergence of a macrolide resistance-associated mutation in Mycoplasma pneumoniae during macrolide therapy for interstitial pneumonia in an immunocompromised child. 61
22814468 2012
27
Anesthetic management in a child with Job's syndrome. 61
25885624 2012
28
Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome. 61
23055595 2012
29
Hyper-IgE syndrome update. 61
22268731 2012
30
Cutaneous manifestations of DOCK8 deficiency syndrome. 61
21931011 2012
31
Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES). 61
22126402 2011
32
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. 61
21346738 2011
33
Tracheal stenosis in hyper immunoglobulin E syndrome: a novel case report. 61
21459460 2011
34
[Hyperimmunoglobulin E syndrome (Job's syndrome)]. 61
22482162 2011
35
Acupuncture for symptom management in patients with hyper-IgE (Job's) syndrome. 61
21208131 2011
36
Anesthesia in a patient with Job's syndrome (hyper IgE). Case report. 61
21334510 2011
37
Severe Candida spp. infections: new insights into natural immunity. 61
21129931 2010
38
Hyper-IgE syndrome with Epstein-Barr virus associated extranodal NK/T cell lymphoma of skin. 61
20434102 2010
39
Th17 cells, Job's syndrome and HIV: opportunities for bacterial and fungal infections. 61
20543597 2010
40
Clinical manifestations of hyper IgE syndromes. 61
21178271 2010
41
Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography. 61
19933621 2009
42
Recurrent giant chalazia in hyperimmunoglobulin E (Job's) syndrome. 61
18528638 2009
43
Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature. 61
19700878 2009
44
Recurrent hemoptysis with Penicillium marneffei and Stenotrophomonas maltophilia in Job's syndrome. 61
19707602 2009
45
Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations. 61
19036057 2009
46
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 61
18337720 2008
47
Methicillin-resistant Staphylococcus aureus (MRSA) mitral valve acute bacterial endocarditis (ABE) in a patient with Job's syndrome (hyperimmunoglobulin E syndrome) successfully treated with linezolid and high-dose daptomycin. 61
18206530 2008
48
Hyperimmunoglobulin E syndrome (Job's syndrome). 61
19284090 2008
49
Congenital immunodeficiency disorder. 61
18290560 2007
50
STAT3 mutation in the original patient with Job's syndrome. 61
17942886 2007

Variations for Hyper Ige Recurrent Infection Syndrome 1

Expression for Hyper Ige Recurrent Infection Syndrome 1

Search GEO for disease gene expression data for Hyper Ige Recurrent Infection Syndrome 1.

Pathways for Hyper Ige Recurrent Infection Syndrome 1

Pathways related to Hyper Ige Recurrent Infection Syndrome 1 according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TYK2 STAT3 STAT1 RORC IL6 IL22
2
Show member pathways
13.81 STAT3 STAT1 IL6 IL22 IL17RC IL17RA
3
Show member pathways
13.6 TYK2 STAT3 IL6 IL22 IL17RC IL17RA
4
Show member pathways
13.52 TYK2 STAT3 STAT1 IL6 IL22 IL17RC
5
Show member pathways
13.34 STAT3 STAT1 IL6 IL22 IL17RC IL17RA
6
Show member pathways
13.28 IL6 IL22 IL17RC IL17RA IL17A IL10
7
Show member pathways
13.26 TYK2 STAT3 STAT1 RORC IL6 IL22
8
Show member pathways
13.1 TYK2 STAT3 STAT1 IL6 IL10 CARD9
9
Show member pathways
12.84 STAT1 IL6 IL22 IL17A IL10 CD4
10
Show member pathways
12.76 TYK2 STAT3 STAT1 IL6 IL22
11
Show member pathways
12.59 STAT3 STAT1 IL6 IL17A IL10 CD4
12 12.55 TYK2 STAT3 STAT1 IL17A IL10 CARD9
13
Show member pathways
12.51 TYK2 STAT3 STAT1 RORC IL6 IL17F
14
Show member pathways
12.39 TYK2 STAT3 STAT1 RORC IL6 IL22
15
Show member pathways
12.32 TYK2 STAT3 STAT1 IL6 IL22 IL10
16
Show member pathways
12.31 STAT3 RORC IL6 IL17RC IL17RA IL17F
17
Show member pathways
12.29 TYK2 STAT3 STAT1 IL6
18
Show member pathways
12.27 TYK2 STAT1 IL6 IL17A IL10
19
Show member pathways
12.26 TYK2 STAT3 STAT1 IL10
20 12.24 STAT1 IL6 IL10 CLEC7A CARD9
21 12.23 TYK2 STAT1 IL6 CARD9
22
Show member pathways
12.22 STAT1 IL6 IL10 CLEC7A CARD9
23
Show member pathways
11.99 TYK2 STAT3 STAT1 CD4
24 11.89 TYK2 STAT3 STAT1 IL6 IL10
25 11.87 STAT3 STAT1 IL6
26
Show member pathways
11.85 TYK2 STAT3 STAT1 IL6
27 11.78 RORC IL22 IL17A IL10 CD4 CCR6
28 11.77 IL6 IL17RA IL10 CD4
29
Show member pathways
11.77 STAT3 RORC IL6 IL17RC IL17RA IL17F
30 11.75 STAT3 STAT1 CD4
31 11.71 IL6 IL17A IL10
32
Show member pathways
11.63 TYK2 STAT3 STAT1 IL6
33 11.61 TYK2 STAT3 STAT1 RORC IL6 IL17F
34 11.59 TYK2 STAT3 STAT1
35 11.57 STAT3 IL10 CD4
36 11.53 TYK2 STAT3 IL6 IL10
37 11.51 STAT3 STAT1 IL6
38 11.48 TYK2 STAT3 STAT1
39
Show member pathways
11.44 TYK2 STAT3 STAT1 RORC IL6 IL22
40 11.43 TYK2 STAT3 STAT1
41
Show member pathways
11.42 TYK2 STAT3 STAT1
42 11.36 TYK2 STAT3 IL6 IL10
43 11.33 IL6 IL22 IL17A
44 11.28 IL6 IL10 CD4
45 11.06 TYK2 STAT3 STAT1

GO Terms for Hyper Ige Recurrent Infection Syndrome 1

Biological processes related to Hyper Ige Recurrent Infection Syndrome 1 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.01 IL6 IL17A IL10 CD4 CCR6
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 ZNF341 STAT3 STAT1 RORC IL6 IL10
3 inflammatory response GO:0006954 9.8 STAT3 IL6 IL22 IL17F IL17A IL10
4 response to glucocorticoid GO:0051384 9.76 IL6 IL22 IL10
5 cellular response to cytokine stimulus GO:0071345 9.75 STAT3 STAT1 IL17RA
6 acute-phase response GO:0006953 9.69 STAT3 IL6 IL22
7 positive regulation of interleukin-6 secretion GO:2000778 9.65 IL17RC IL17F IL17A
8 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.63 STAT3 CLEC7A
9 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.63 CLEC7A CD4
10 defense response to fungus GO:0050832 9.63 IL17RC IL17RA IL17A
11 interleukin-15-mediated signaling pathway GO:0035723 9.62 STAT3 CD4
12 interleukin-35-mediated signaling pathway GO:0070757 9.62 STAT3 STAT1
13 interleukin-23-mediated signaling pathway GO:0038155 9.61 TYK2 STAT3
14 interleukin-9-mediated signaling pathway GO:0038113 9.6 STAT3 STAT1
15 interleukin-21-mediated signaling pathway GO:0038114 9.59 STAT3 STAT1
16 interleukin-6-mediated signaling pathway GO:0070102 9.58 STAT3 STAT1 IL6
17 T-helper 17 cell lineage commitment GO:0072540 9.57 STAT3 IL6
18 response to peptidoglycan GO:0032494 9.56 IL6 CARD9
19 granulocyte chemotaxis GO:0071621 9.55 IL17RC IL17RA
20 positive regulation of interleukin-23 production GO:0032747 9.54 IL17RA IL17A
21 regulation of interleukin-6 biosynthetic process GO:0045408 9.52 IL17F CARD9
22 interleukin-27-mediated signaling pathway GO:0070106 9.5 TYK2 STAT3 STAT1
23 fibroblast activation GO:0072537 9.49 IL17RA IL17A
24 interleukin-17-mediated signaling pathway GO:0097400 9.46 IL17RC IL17RA IL17F IL17A
25 regulation of interleukin-2 biosynthetic process GO:0045076 9.43 IL17F CARD9
26 cytokine-mediated signaling pathway GO:0019221 9.36 TYK2 STAT3 STAT1 RORC IL6 IL22
27 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.35 IL17RC IL17RA IL17F IL17A CLEC7A

Molecular functions related to Hyper Ige Recurrent Infection Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 ZNF341 TYK2 STAT3 STAT1 RORC IL6
2 CCR5 chemokine receptor binding GO:0031730 9.16 STAT3 STAT1
3 cytokine activity GO:0005125 9.02 IL6 IL22 IL17F IL17A IL10
4 interleukin-17 receptor activity GO:0030368 8.96 IL17RC IL17RA

Sources for Hyper Ige Recurrent Infection Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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48 NCI
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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