MCID: HYP847
MIFTS: 40

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 44
Hyperimmunoglobulin E Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3261
MeSH 44 D007589
NCIt 50 C126342
UMLS 72 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 Cytokine Signaling in Immune system and Th17 cell differentiation. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are hematopoietic system and immune 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 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 167)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 31.6 TYK2 STAT3 PGM3 DOCK8
2 suppurative lymphadenitis 30.0 STAT3 DOCK8
3 chronic mucocutaneous candidiasis 29.3 STAT3 IL17A
4 bacterial infectious disease 28.7 IRAK4 IL17A
5 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.9
6 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.9
7 obsolete: autosomal recessive hyper-ige syndrome 11.7
8 dock8 immunodeficiency syndrome 11.4
9 dermatitis, atopic 10.4
10 osteomyelitis 10.2
11 vasculitis 10.2
12 meningitis 10.2
13 headache 10.2
14 lung abscess 10.2
15 peritonitis 10.2
16 keratitis, hereditary 10.1
17 otitis media 10.1
18 allergic rhinitis 10.1
19 aspergillosis 10.1
20 exanthem 10.1
21 keratoconus 10.1
22 papilledema 10.1
23 candidiasis 10.1
24 herpes zoster 10.1
25 herpes simplex 10.1
26 molluscum contagiosum 10.1
27 fasciitis 10.1
28 necrotizing fasciitis 10.1
29 haemophilus influenzae 10.1
30 cryptococcosis 10.1
31 b cell deficiency 10.0 STAT3 DOCK8
32 mixed lacrimal gland cancer 10.0 TYK2 STAT3
33 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist 9.9
34 neutrophil migration 9.9
35 prolidase deficiency 9.9
36 strabismus 9.9
37 intracranial hypertension, idiopathic 9.9
38 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
39 pancreatic beta cell agenesis with neonatal diabetes mellitus 9.9
40 patent ductus venosus 9.9
41 brittle bone disorder 9.9
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
43 immunodeficiency 35 9.9
44 hydrops, lactic acidosis, and sideroblastic anemia 9.9
45 tooth agenesis 9.9
46 anaplastic large cell lymphoma 9.9
47 immunoglobulin alpha deficiency 9.9
48 crohn's colitis 9.9
49 pollen allergy 9.9
50 bone resorption disease 9.9

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 DOCK8 IL17A IRAK4 PGM3 STAT3 TYK2
2 immune system MP:0005387 9.1 DOCK8 IL17A IRAK4 PGM3 STAT3 TYK2

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 43)
# 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 Antifungal Agents Phase 3
4 Antiparasitic Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Anti-Infective Agents Phase 3
7 14-alpha Demethylase Inhibitors Phase 3
8 Hormones Phase 3
9 Steroid Synthesis Inhibitors Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11 Hormone Antagonists Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
13
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
14
Histamine Approved, Investigational Phase 2 51-45-6 774
15
Sodium citrate Approved, Investigational Phase 2 68-04-2
16
Ranitidine Approved Phase 2 66357-35-5, 66357-59-3 3001055
17
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
18 Antibodies Phase 2
19 Immunoglobulins Phase 2
20 Immunologic Factors Phase 2
21 Agglutinins Phase 2
22 Vaccines Phase 2
23 Liposomal amphotericin B Phase 2
24 Anti-Bacterial Agents Phase 2
25 Autoantibodies Phase 2
26 Gastrointestinal Agents Phase 2
27 Neurotransmitter Agents Phase 2
28 Antacids Phase 2
29 Citrate Phase 2
30 Histamine Antagonists Phase 2
31
Histamine Phosphate Phase 2 51-74-1 65513
32 Anti-Ulcer Agents Phase 2
33 Histamine H2 Antagonists Phase 2
34 Bismuth tripotassium dicitrate Phase 2
35
Bismuth Phase 2 7440-69-9 16682734 105143
36 Ranitidine bismuth citrate Phase 2
37
Omalizumab Approved, Investigational Phase 1 242138-07-4
38 Anti-Allergic Agents Phase 1
39 Respiratory System Agents Phase 1
40 Anti-Asthmatic Agents Phase 1
41 Anti-Inflammatory Agents
42 Yellow Dock
43 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 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:

41
Skin, Lung, Bone, Bone Marrow, Neutrophil, Colon, T Cells

Publications for Hyper Ige Recurrent Infection Syndrome 1

Articles related to Hyper Ige Recurrent Infection Syndrome 1:

(show top 50) (show all 141)
# Title Authors PMID Year
1
Hyper-IgE in the allergy clinic--when is it primary immunodeficiency? 38
30043993 2018
2
Report of Massive Bleed after Chest-drain Insertion in a Case of Job's (hyper-IgE) Syndrome. 38
30443121 2018
3
TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome. 38
30035749 2018
4
Fatal Talaromyces marneffei Infection in a Patient with Autoimmune Hepatitis. 38
29349620 2018
5
Learning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions. 38
29406845 2018
6
Retraction note: A Boy with Relentless Pruritus: Job's Syndrome. 38
28695886 2017
7
Herpes Simplex Virus and Human Papillomavirus Coinfections in Hyperimmunoglobulin E Syndrome Presenting as a Conjunctival Mass Lesion. 38
29158737 2017
8
Oral Manifestations of Job's Syndrome in a Paediatric Dental Patient - A Case Report. 38
28050511 2016
9
Fraternal twins with job's syndrome and immune complex nephritis. 38
28509165 2016
10
A Boy with Relentless Pruritus: Job's Syndrome. 38
26897360 2016
11
A Twenty-Three-Year-Old Man with a Chronic Anterior Chest Wall Wound, Eosinophilia, and Elevated IgE-Job's Syndrome. 38
27159513 2015
12
Acute disseminated encephalomyelitis: an uncommon presentation of hyper IgE syndrome. 38
25518794 2014
13
A new case of Job's syndrome at the clinic: a diagnostic challenge. 38
24560409 2014
14
[Job's syndrome and miliary tuberculosis]. 38
25188660 2014
15
Job's syndrome presenting with a tension pneumothorax and a lung abscess. 38
25432646 2014
16
Hyperimmunoglobulin E syndrome with persistent vertebral osteomyelitis due to methicillin-resistant Staphylococcus aureus: Case report and review of the literature. 38
26839768 2014
17
Job's syndrome with an atypical presentation. 38
24392534 2013
18
Do you know this syndrome? 38
24173199 2013
19
Free light chain assay: doing a "good job" in Job's syndrome. 38
23101694 2013
20
Serum free light chains as predictors of lymphomagenesis in patients with autosomal dominant hyper-immunoglobulin E syndrome (Job's syndrome). 38
23039380 2013
21
Safety of major abdominal surgical procedures in patients with hyperimmunoglobulinemia E (Job's syndrome): a changing paradigm? 38
23188219 2013
22
Rectal histoplasmosis in Job's syndrome. 38
23151895 2013
23
An update on the hyper-IgE syndromes. 38
23210525 2012
24
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. 38
22814468 2012
25
Anesthetic management in a child with Job's syndrome. 38
25885624 2012
26
Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome. 38
23055595 2012
27
Hyper-IgE syndrome update. 38
22268731 2012
28
Cutaneous manifestations of DOCK8 deficiency syndrome. 38
21931011 2012
29
Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES). 38
22126402 2011
30
New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. 38
21346738 2011
31
Tracheal stenosis in hyper immunoglobulin E syndrome: a novel case report. 38
21459460 2011
32
[Hyperimmunoglobulin E syndrome (Job's syndrome)]. 38
22482162 2011
33
Acupuncture for symptom management in patients with hyper-IgE (Job's) syndrome. 38
21208131 2011
34
Anesthesia in a patient with Job's syndrome (hyper IgE). Case report. 38
21334510 2011
35
Severe Candida spp. infections: new insights into natural immunity. 38
21129931 2010
36
Hyper-IgE syndrome with Epstein-Barr virus associated extranodal NK/T cell lymphoma of skin. 38
20434102 2010
37
Th17 cells, Job's syndrome and HIV: opportunities for bacterial and fungal infections. 38
20543597 2010
38
Clinical manifestations of hyper IgE syndromes. 38
21178271 2010
39
Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography. 38
19933621 2009
40
Recurrent giant chalazia in hyperimmunoglobulin E (Job's) syndrome. 38
18528638 2009
41
Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature. 38
19700878 2009
42
Recurrent hemoptysis with Penicillium marneffei and Stenotrophomonas maltophilia in Job's syndrome. 38
19707602 2009
43
Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations. 38
19036057 2009
44
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 38
18337720 2008
45
Hyperimmunoglobulin E syndrome (Job's syndrome). 38
19284090 2008
46
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. 38
18206530 2008
47
Congenital immunodeficiency disorder. 38
18290560 2007
48
STAT3 mutation in the original patient with Job's syndrome. 38
17942886 2007
49
STAT3 mutations in the hyper-IgE syndrome. 38
17881745 2007
50
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. 38
17098478 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 TYK2 STAT3 IRAK4 IL17A
2
Show member pathways
12.22 TYK2 STAT3 IL17A
3
Show member pathways
12.2 TYK2 STAT3 IL17A
4
Show member pathways
11.71 TYK2 STAT3 IRAK4
5
Show member pathways
11.65 TYK2 STAT3
6
Show member pathways
11.56 STAT3 IL17A
7 11.55 TYK2 STAT3
8
Show member pathways
11.52 TYK2 STAT3
9
Show member pathways
11.45 TYK2 STAT3 IL17A
10 11.44 TYK2 STAT3 IRAK4 IL17A
11 11.4 STAT3 IRAK4
12
Show member pathways
11.32 TYK2 STAT3
13 11.29 TYK2 STAT3
14 11.24 TYK2 STAT3
15 11.21 TYK2 STAT3
16 11.19 TYK2 STAT3 IL17A
17 11.12 TYK2 STAT3
18 11.06 TYK2 STAT3
19
Show member pathways
11.02 TYK2 STAT3
20 10.95 TYK2 STAT3
21
Show member pathways
10.83 TYK2 STAT3
22 10.6 TYK2 STAT3

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:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.43 TYK2 STAT3 IRAK4
2 interleukin-27-mediated signaling pathway GO:0070106 9.16 TYK2 STAT3
3 interleukin-23-mediated signaling pathway GO:0038155 8.96 TYK2 STAT3
4 cytokine-mediated signaling pathway GO:0019221 8.92 TYK2 STAT3 IRAK4 IL17A

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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