MCID: HYP847
MIFTS: 43

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 15
Job Syndrome 12 43
Hyperimmunoglobulin E Syndrome 12
Job's 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 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 Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, 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 369)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 32.0 ZNF341 TYK2 STAT3 PGM3 IL6 IL17A
2 suppurative lymphadenitis 30.3 DOCK8 CD4
3 exanthem 30.3 IL6 CD4 CCR6
4 lung abscess 30.2 STAT3 IL6 DOCK8 CD4
5 aspergillosis 30.1 STAT3 IL6 CLEC7A CCR6
6 childhood type dermatomyositis 30.0 IL6 CD4 CCR6
7 aortitis 30.0 IL6 IL17A CD4
8 keratitis, hereditary 30.0 IL6 IL17A CD4 CCR6
9 esophageal candidiasis 29.9 IL17A CD4 CCR6 CARD9
10 common cold 29.8 IL6 IL17A CD4 CCR6
11 cryptococcosis 29.8 IL17A CLEC7A CD4 CCR6 CARD9
12 dermatitis 29.7 STAT3 IL6 IL17A CCR6
13 nocardiosis 29.7 IL12RB1 CD4
14 blepharitis 29.7 STAT1 IL6 CD4 CCR6
15 endophthalmitis 29.6 IL6 CD4 CARD9
16 thrombocytopenia 29.5 STAT3 STAT1 IL6 IL17F IL17A
17 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.5 STAT3 STAT1 IL17A DOCK8 CD4 CCR6
18 bacterial infectious disease 29.5 IL6 IL17A CD4 CCR6
19 dermatitis, atopic 29.4 STAT1 IL6 IL17A IL12RB1 CD4 CCR6
20 cutaneous candidiasis 29.4 IL17RA IL17F IL17A CLEC7A CCR6 CARD9
21 lymphadenitis 29.3 STAT3 IL12RB1 CD4 CCR6
22 crohn's disease 29.3 STAT3 IL6 IL22 IL17A CD4 CCR6
23 histoplasmosis 28.8 STAT1 IL17A IL12RB1 CLEC7A CD4 CCR6
24 mycobacterium tuberculosis 1 28.8 STAT1 IL17A IL12RB1 CLEC7A CD4 CCR6
25 severe combined immunodeficiency 28.7 TYK2 PGM3 JAK3 IL6 IL17A CD4
26 oral candidiasis 28.5 STAT1 IL17RA IL17F IL17A CLEC7A CD4
27 immune deficiency disease 28.1 STAT1 JAK3 IL6 IL12RB1 CD4 CCR6
28 candidiasis 27.6 STAT3 STAT1 RORC IL6 IL22 IL17RA
29 fungal infectious disease 26.6 STAT3 STAT1 IL6 IL17RA IL17F IL17A
30 chronic mucocutaneous candidiasis 25.4 ZNF341 TYK2 STAT3 STAT1 RORC IL6
31 hyper-ige recurrent infection syndrome 1, autosomal dominant 13.0
32 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.9
33 stat3 hyper ige syndrome 11.6
34 dock8 immunodeficiency syndrome 11.4
35 autoimmune polyendocrine syndrome 10.4 IL22 IL17A CCR6
36 autoimmune enteropathy 10.4 STAT3 IL17A
37 acute generalized exanthematous pustulosis 10.3 IL22 IL17F IL17A
38 leukocyte adhesion deficiency, type i 10.3 IL17A DOCK8 CCR6
39 tularemia 10.3 IL17A CD4 CCR6
40 alk-positive anaplastic large cell lymphoma 10.3 STAT3 JAK3
41 systemic autoimmune disease 10.3 IL6 IL17A
42 mixed lacrimal gland cancer 10.3 TYK2 STAT3 IL6
43 seborrheic dermatitis 10.3 DOCK8 CD4 CCR6
44 cheilitis 10.3 STAT3 CD4 CCR6
45 transient arthritis 10.2 IL17A CD4
46 dacryoadenitis 10.2 IL17A CD4 CCR6
47 norwegian scabies 10.2 IL17A CD4
48 autoimmune glomerulonephritis 10.2 IL17A CD4 CCR6
49 autoimmune disease of urogenital tract 10.2 IL17A CD4 CCR6
50 intestinal schistosomiasis 10.2 IL17A CD4 CCR6

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 JAK3 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 10.28 CARD9 CCR6 CD4 CLEC7A DOCK8 IL12RB1
2 digestive/alimentary MP:0005381 10.14 CD4 CLEC7A IL17A IL17F IL22 IL6
3 homeostasis/metabolism MP:0005376 10.13 CARD9 CCR6 CD4 CLEC7A IL12RB1 IL17A
4 immune system MP:0005387 10.11 CARD9 CCR6 CD4 CLEC7A DOCK8 IL12RB1
5 endocrine/exocrine gland MP:0005379 10.07 CD4 IL17A IL22 IL6 JAK3 PGM3
6 mortality/aging MP:0010768 9.77 CD4 CLEC7A IL17A IL17F IL22 IL6
7 respiratory system MP:0005388 9.23 CLEC7A IL17A IL17F IL17RA IL22 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
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
4 Anti-Infective Agents Phase 3
5 Antiparasitic Agents Phase 3
6 Antiprotozoal Agents Phase 3
7 Antifungal Agents Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
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 Agglutinins Phase 2
18 Vaccines Phase 2
19 Amebicides Phase 2
20 Anti-Bacterial Agents Phase 2
21 Liposomal amphotericin B Phase 2
22 Autoantibodies Phase 2
23 Neurotransmitter Agents Phase 2
24 Antacids Phase 2
25 Anti-Ulcer Agents Phase 2
26 Histamine Antagonists Phase 2
27 Ranitidine bismuth citrate Phase 2
28 Citrate Phase 2
29 Histamine H2 Antagonists Phase 2
30
Histamine Phosphate Phase 2 51-74-1 65513
31 Gastrointestinal Agents Phase 2
32 Bismuth tripotassium dicitrate Phase 2
33
Bismuth Phase 2 7440-69-9 16682734 105143
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Respiratory System Agents Phase 1
36 Anti-Allergic Agents Phase 1
37 Immunoglobulins, Intravenous Phase 1
38 Anti-Asthmatic Agents Phase 1
39 Anti-Inflammatory Agents
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 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
13 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
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
Skin, Bone, Lung, Bone Marrow, Tongue, Neutrophil

Publications for Hyper Ige Recurrent Infection Syndrome 1

Articles related to Hyper Ige Recurrent Infection Syndrome 1:

(show all 45)
# Title Authors PMID Year
1
Orthognathic Surgical Treatment in a Patient With Hyperimmunoglobulin E Syndrome. 61
31977682 2020
2
Case report of an unusual presentation of Staphylococcus aureus induced toxic shock syndrome/hyperimmunoglobulinemia E syndrome. 61
32282735 2020
3
Late onset Job syndrome With Growth Retardation. 61
32284486 2020
4
[THE DISEASE OF JOB]. 61
31507115 2019
5
Hyper IgE syndromes: clinical and molecular characteristics. 61
30264496 2019
6
Job syndrome. 61
30220469 2019
7
Hyperimmunoglobulin E syndrome (Job syndrome): chest CT findings. 61
30020346 2018
8
Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. 61
29552943 2018
9
Pediatric anaphylaxis and hyper IgE syndrome. 61
28280372 2017
10
Eosinophilia in an Acutely Limping Child: An Easy Guess of Rare Systemic Aetiology! 61
27504370 2016
11
Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome. 61
26292779 2015
12
WU polyomavirus in respiratory epithelial cells from lung transplant patient with Job syndrome. 61
25531075 2015
13
JAK-STAT and bone metabolism. 61
24069548 2013
14
An unusual lesion of the tongue in a 4-year-old with Job syndrome. 61
23415466 2013
15
Congenital insensitivity to pain and anhydrosis: a report of two cases. 61
23630006 2013
16
Nursing teamwork and time to respond to call lights: an exploratory study. 61
23459913 2013
17
Hyper Ig E syndrome (Job syndrome, HIES) - radiological images of pulmonary complications on the basis of three cases. 61
22844313 2012
18
Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases. 61
20861064 2011
19
Diverticulitis in a young man with hyper-IgE syndrome. 61
21037522 2010
20
Hyper IgE Disorder Associated with Multiple Fused Primary Teeth: A Rare Clinical Occurrence. 61
27616847 2010
21
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 61
20093388 2010
22
Ileocecal histoplasmosis simulating Crohn disease in a patient with hyperimmunoglobulin E syndrome. 61
19633521 2009
23
Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome. 61
18329728 2008
24
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 61
18380833 2008
25
Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. 61
18410869 2008
26
Job syndrome masquerading as non-accidental injury. 61
17804589 2008
27
[Hyper IgE syndrome. Opportune diagnosis and management]. 61
18697452 2008
28
Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature. 61
16778678 2006
29
Hyper-IgE syndrome is not associated with defects in several candidate toll-like receptor pathway genes. 61
16112032 2005
30
Invasive aspergillosis in primary immunodeficiencies. 61
16110817 2005
31
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. 61
28226175 2004
32
Giant chalazia in the hyperimmunoglobulinemia E (hyper-IgE) syndrome. 61
15206652 2004
33
Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections. 61
9727824 1998
34
The face of Job. 61
9709729 1998
35
Candida endophthalmitis in Job syndrome. 61
8619778 1996
36
[Job syndrome (hyper-IgE) and hypo-IgA. A rare association of immunodeficiencies]. 61
8725083 1996
37
Use of recombinant human interferon gamma to enhance neutrophil chemotactic responses in Job syndrome of hyperimmunoglobulinemia E and recurrent infections. 61
1900333 1991
38
[Hyperimmunoglobulinemia E (Job) syndrome]. 61
2057202 1991
39
[Chemotaxis and cellular migration in respiratory pathology]. 61
2204970 1990
40
Regulation of immunoglobulin production in hyperimmunoglobulin E recurrent-infection syndrome by interferon gamma. 61
2513574 1989
41
[The hyper-IgE-syndrome (Buckley- or Job-syndrome)]. 61
3545808 1987
42
Demonstration of a cold abscess by gallium-67 imaging in a patient with Job syndrome. 61
3488663 1986
43
[The concept of Job syndrome]. 61
6670279 1983
44
Abnormalities of lymphocyte locomotion in immunodeficiency disease. 61
6616960 1983
45
Immune regulation in the hyper-IgE/Job syndrome. 61
6360246 1983

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 TYK2 STAT3 STAT1 RORC JAK3 IL6
2
Show member pathways
13.82 STAT4 STAT3 STAT1 JAK3 IL6 IL22
3
Show member pathways
13.66 TYK2 STAT3 JAK3 IL6 IL22 IL17RA
4
Show member pathways
13.54 TYK2 STAT4 STAT3 STAT1 JAK3 IL6
5
Show member pathways
13.38 STAT4 STAT3 STAT1 JAK3 IL6 IL22
6
Show member pathways
13.3 IL6 IL22 IL17RA IL17A IL12RB1 CD4
7
Show member pathways
13.29 TYK2 STAT3 STAT1 RORC JAK3 IL6
8
Show member pathways
13.06 TYK2 STAT4 STAT3 STAT1 JAK3 IL6
9
Show member pathways
12.86 STAT3 STAT1 JAK3 CD4 CCR6
10 12.85 STAT4 STAT3 STAT1 JAK3 IL6 IL12RB1
11
Show member pathways
12.84 STAT1 IL6 IL22 IL17A CD4
12
Show member pathways
12.81 TYK2 STAT3 STAT1 JAK3 IL6
13
Show member pathways
12.79 TYK2 STAT3 STAT1 JAK3 IL6 IL22
14
Show member pathways
12.6 STAT3 STAT1 IL6 IL17A CD4
15
Show member pathways
12.6 TYK2 STAT4 STAT3 STAT1 RORC IL6
16 12.59 TYK2 STAT4 STAT3 STAT1 JAK3 IL17A
17
Show member pathways
12.46 TYK2 STAT4 STAT3 STAT1 JAK3 IL6
18
Show member pathways
12.39 TYK2 STAT3 STAT1 JAK3
19
Show member pathways
12.37 STAT3 RORC IL6 IL17RA IL17F IL17A
20
Show member pathways
12.36 TYK2 STAT4 STAT3 STAT1 JAK3
21
Show member pathways
12.3 TYK2 STAT3 STAT1 JAK3
22
Show member pathways
12.27 TYK2 STAT4 STAT3 STAT1 RORC JAK3
23 12.25 TYK2 STAT1 IL6 CARD9
24 12.24 STAT1 IL6 CLEC7A CARD9
25
Show member pathways
12.23 TYK2 STAT4 STAT3 STAT1 JAK3
26
Show member pathways
12.22 STAT1 IL6 CLEC7A CARD9
27
Show member pathways
12.15 TYK2 STAT4 STAT3 STAT1 JAK3
28
Show member pathways
12.01 TYK2 STAT4 STAT3 STAT1 IL12RB1 CD4
29 11.98 TYK2 STAT3 STAT1 RORC JAK3 IL6
30 11.89 STAT3 STAT1 IL6
31
Show member pathways
11.88 TYK2 STAT4 STAT3 STAT1 RORC IL6
32
Show member pathways
11.86 TYK2 STAT3 STAT1 IL6
33 11.84 TYK2 STAT1 IL6
34
Show member pathways
11.83 STAT3 RORC JAK3 IL6 IL17RA IL17F
35 11.81 RORC IL22 IL17A IL12RB1 CD4 CCR6
36 11.75 STAT3 STAT1 CD4
37 11.74 IL6 IL17RA CD4
38
Show member pathways
11.66 TYK2 STAT3 STAT1 IL6
39 11.63 TYK2 STAT4 STAT3 STAT1
40 11.54 TYK2 STAT3 IL6
41 11.54 STAT4 STAT3 STAT1 IL6
42 11.51 STAT4 JAK3 CD4
43 11.49 TYK2 STAT3 STAT1
44
Show member pathways
11.49 STAT3 STAT1 JAK3
45
Show member pathways
11.46 STAT3 STAT1 JAK3
46
Show member pathways
11.4 TYK2 STAT4 STAT3 STAT1 RORC JAK3
47 11.37 TYK2 STAT3 IL6
48 11.33 IL6 IL22 IL17A
49
Show member pathways
11.31 TYK2 STAT4 STAT3 IL12RB1
50 11.28 TYK2 STAT3 JAK3

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 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.05 ZNF341 STAT3 STAT1 RORC IL6 CD4
2 inflammatory response GO:0006954 9.95 STAT3 IL6 IL22 IL17F IL17A CLEC7A
3 positive regulation of T cell proliferation GO:0042102 9.8 JAK3 IL6 CD4
4 cellular response to cytokine stimulus GO:0071345 9.79 STAT3 STAT1 IL17RA
5 response to peptide hormone GO:0043434 9.78 STAT4 STAT3 STAT1
6 interleukin-12-mediated signaling pathway GO:0035722 9.76 TYK2 STAT4 IL12RB1
7 acute-phase response GO:0006953 9.72 STAT3 IL6 IL22
8 JAK-STAT cascade GO:0007259 9.7 STAT4 STAT3 STAT1
9 interleukin-6-mediated signaling pathway GO:0070102 9.67 STAT3 STAT1 IL6
10 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.64 STAT3 JAK3
11 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.64 CLEC7A CD4
12 positive regulation of interleukin-12 biosynthetic process GO:0045084 9.63 IL17A CLEC7A
13 enzyme linked receptor protein signaling pathway GO:0007167 9.63 JAK3 CD4
14 interleukin-15-mediated signaling pathway GO:0035723 9.63 STAT3 JAK3 CD4
15 response to peptidoglycan GO:0032494 9.61 IL6 CARD9
16 interleukin-35-mediated signaling pathway GO:0070757 9.61 STAT4 STAT3 STAT1
17 T-helper 17 cell lineage commitment GO:0072540 9.6 STAT3 IL6
18 positive regulation of interleukin-23 production GO:0032747 9.59 IL17RA IL17A
19 interleukin-27-mediated signaling pathway GO:0070106 9.58 TYK2 STAT3 STAT1
20 fibroblast activation GO:0072537 9.57 IL17RA IL17A
21 regulation of interleukin-6 biosynthetic process GO:0045408 9.56 IL17F CARD9
22 interleukin-23-mediated signaling pathway GO:0038155 9.56 TYK2 STAT4 STAT3 IL12RB1
23 negative regulation of primary miRNA processing GO:2000635 9.54 STAT3 IL6
24 interleukin-9-mediated signaling pathway GO:0038113 9.54 STAT3 STAT1 JAK3
25 regulation of interleukin-2 biosynthetic process GO:0045076 9.51 IL17F CARD9
26 interleukin-17-mediated signaling pathway GO:0097400 9.5 IL17RA IL17F IL17A
27 interleukin-21-mediated signaling pathway GO:0038114 9.46 STAT4 STAT3 STAT1 JAK3
28 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.43 STAT3 IL6 IL17RA IL17F IL17A CLEC7A
29 cytokine-mediated signaling pathway GO:0019221 9.4 TYK2 STAT4 STAT3 STAT1 RORC JAK3

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 9.58 ZNF341 TYK2 STAT4 STAT3 STAT1 RORC
2 cytokine activity GO:0005125 9.46 IL6 IL22 IL17F IL17A
3 CCR5 chemokine receptor binding GO:0031730 8.96 STAT3 STAT1

Sources for Hyper Ige Recurrent Infection Syndrome 1

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57 OMIM via Orphanet
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