MCID: STT071
MIFTS: 20

Stat3 Hyper Ige Syndrome

Aliases & Classifications for Stat3 Hyper Ige Syndrome

MalaCards integrated aliases for Stat3 Hyper Ige Syndrome:

Name: Stat3 Hyper Ige Syndrome 24
Stat3 Loss-of-Function Hyper-Ige Syndrome 24
Stat3-Deficient Hyper-Ige Syndrome 24
Stat3 Deficiency 24
Stat3 Lof Hies 24
Job Syndrome 24
Stat3-Hies 24

Characteristics:

GeneReviews:

24
Penetrance Intrafamilial variability is minimal and penetrance appears to be complete.

Summaries for Stat3 Hyper Ige Syndrome

MalaCards based summary : Stat3 Hyper Ige Syndrome, also known as stat3 loss-of-function hyper-ige syndrome, is related to hyper ige recurrent infection syndrome 1 and hyper ige syndrome. An important gene associated with Stat3 Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3). The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin.

GeneReviews: NBK25507

Related Diseases for Stat3 Hyper Ige Syndrome

Diseases related to Stat3 Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 hyper ige recurrent infection syndrome 1 11.7
2 hyper ige syndrome 10.4
3 hernia, hiatus 10.3
4 esophagitis, eosinophilic, 1 10.3
5 streptococcus pneumonia 10.3
6 esophagitis 10.3
7 haemophilus influenzae 10.3
8 dysphagia 10.3
9 dermatitis 10.2
10 gastroesophageal reflux 10.1
11 hyper-ige recurrent infection syndrome 1, autosomal dominant 10.1
12 cystic fibrosis 10.1
13 dermatitis, atopic 10.1
14 exanthem 10.1
15 scoliosis 10.1
16 candidiasis 10.1
17 histoplasmosis 10.1
18 lung disease 10.1
19 bronchiectasis 10.1
20 cerebral aneurysms 10.1
21 aspergillosis 9.9
22 chronic granulomatous disease 9.9
23 pneumonia 9.9
24 systemic lupus erythematosus 9.7
25 lymphoma, hodgkin, classic 9.7
26 brittle bone disorder 9.7
27 lymphoma, non-hodgkin, familial 9.7
28 invasive aspergillosis 9.7
29 osteonecrosis 9.7
30 mastitis 9.7
31 parametritis 9.7
32 allergic bronchopulmonary aspergillosis 9.7
33 glomerulonephritis 9.7
34 cellulitis 9.7
35 lymphopenia 9.7
36 bacterial pneumonia 9.7
37 lupus erythematosus 9.7
38 splenomegaly 9.7
39 ige responsiveness, atopic 9.7
40 immune deficiency disease 9.7
41 lymphoma 9.7
42 bacterial infectious disease 9.7
43 fungal infectious disease 9.7
44 lymphadenitis 9.7
45 endophthalmitis 9.7
46 conjunctivitis 9.7
47 stomatitis 9.7
48 hypereosinophilic syndrome 9.7
49 hypermobile ehlers-danlos syndrome 9.7
50 fournier gangrene 9.7

Graphical network of the top 20 diseases related to Stat3 Hyper Ige Syndrome:



Diseases related to Stat3 Hyper Ige Syndrome

Symptoms & Phenotypes for Stat3 Hyper Ige Syndrome

Drugs & Therapeutics for Stat3 Hyper Ige Syndrome

Drugs for Stat3 Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# 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 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 13)
# 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 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
7 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Cognitive Function in Leukocyte Disorders Completed NCT00005933
10 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
11 NIH Participation to USIDNET Registry Recruiting NCT01953016
12 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
13 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Stat3 Hyper Ige Syndrome

Genetic Tests for Stat3 Hyper Ige Syndrome

Anatomical Context for Stat3 Hyper Ige Syndrome

MalaCards organs/tissues related to Stat3 Hyper Ige Syndrome:

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

Publications for Stat3 Hyper Ige Syndrome

Articles related to Stat3 Hyper Ige Syndrome:

(show all 50)
# Title Authors PMID Year
1
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. 61 24
28747427 2017
2
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. 24
30170123 2019
3
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis. 24
30248356 2019
4
Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency. 24
29803798 2018
5
Mutations in the signal transducer and activator of transcription family of genes in cancer. 24
29417693 2018
6
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. 24
28803389 2017
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
8
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. 24
27091139 2016
9
Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome. 24
26292779 2015
10
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. 24
26304966 2015
11
Successful haploidentical donor hematopoietic stem cell transplant and restoration of STAT3 function in an adolescent with autosomal dominant hyper-IgE syndrome. 24
25962528 2015
12
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 24
25359994 2015
13
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 24
24931394 2014
14
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. 24
24589341 2014
15
Bone density and fractures in autosomal dominant hyper IgE syndrome. 24
24402620 2014
16
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. 24
22402565 2012
17
Somatic STAT3 mutations in large granular lymphocytic leukemia. 24
22591296 2012
18
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency. 24
22084479 2012
19
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. 24
22118528 2011
20
Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases. 24
20861064 2011
21
Coronary artery abnormalities in Hyper-IgE syndrome. 24
21494893 2011
22
Diverticulitis in a young man with hyper-IgE syndrome. 24
21037522 2010
23
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 24
20816194 2010
24
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. 24
20584545 2010
25
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 24
20159255 2010
26
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 24
20004785 2009
27
Combined immunodeficiency associated with DOCK8 mutations. 24
19776401 2009
28
Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. 24
18173452 2008
29
STAT3 mutations in the hyper-IgE syndrome. 24
17881745 2007
30
Brain abnormalities in patients with hyperimmunoglobulin E syndrome. 24
17438082 2007
31
Causes of death in hyper-IgE syndrome. 24
17335882 2007
32
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. 24
17098478 2007
33
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. 24
17088085 2006
34
Dermatitis and the newborn rash of hyper-IgE syndrome. 24
15381553 2004
35
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. 24
14722525 2004
36
Cutaneous manifestations of hyper-IgE syndrome in infants and children. 24
12378200 2002
37
Genetic linkage of hyper-IgE syndrome to chromosome 4. 24
10441580 1999
38
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 24
10053178 1999
39
The face of Job. 24
9709729 1998
40
Targeted disruption of the mouse Stat3 gene leads to early embryonic lethality. 24
9108058 1997
41
Impaired memory B-cell development and antibody maturation with a skewing toward IgE in patients with STAT3 hyper-IgE syndrome. 61
31269238 2019
42
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy. 61
30793327 2019
43
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. 61
28562253 2017
44
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. 61
28203787 2017
45
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children. 61
26592211 2016
46
Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome. 61
26453584 2015
47
The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 61
26384563 2015
48
Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern. 61
24898675 2014
49
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). 61
22981789 2012
50
STAT3 Hyper IgE Syndrome 61
20301786 2010

Variations for Stat3 Hyper Ige Syndrome

Expression for Stat3 Hyper Ige Syndrome

Search GEO for disease gene expression data for Stat3 Hyper Ige Syndrome.

Pathways for Stat3 Hyper Ige Syndrome

GO Terms for Stat3 Hyper Ige Syndrome

Sources for Stat3 Hyper Ige Syndrome

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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