HIES1
MCID: HYP828
MIFTS: 57

Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant (HIES1)

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

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

MalaCards integrated aliases for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

Name: Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 58
Job Syndrome 58 12 77 26 60 76 45
Ad-Hies 25 54 26 60 76
Hyperimmunoglobulin E Syndrome 12 30 6 41
Stat3 Deficiency 25 26 60
Buckley Syndrome 26 60 76
Job's Syndrome 12 26 15
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 54 76
Hyper-Ige Recurrent Infection Syndrome 58 13
Autosomal Dominant Hyper Ige Syndrome 25 54
Autosomal Dominant Hyper-Ige Syndrome 26 60
Hyperimmunoglobulin E Syndrome Type 1 60 76
Stat3-Deficient Hyper Ige Syndrome 25 26
Hies Autosomal Dominant 54 76
Autosomal Dominant Hies 26 60
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 26
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 26
Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant 76
Hyperimmunoglobulin E-Recurrent Infection Syndrome 60
Autosomal Dominant Hyperimmunoglobulin E Syndrome 60
Hyper Ig E Syndrome, Autosomal Dominant 54
Hyper-Ige Syndrome, Autosomal Dominant 58
Hyper-Ige Syndrome Autosomal Dominant 76
Ad Hyperimmunoglobulin E Syndrome 54
Job Syndrome Autosomal Dominant 54
Autosomal Dominant Job Syndrome 26
Hies, Autosomal Dominant 58
Job-Buckley Syndrome 26
Hies1 58

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

33
hyper-ige recurrent infection syndrome 1, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Intrafamilial variability is minimal and penetrance appears to be complete...

Classifications:



Summaries for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Genetics Home Reference : 26 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.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant, also known as job syndrome, is related to hyper ige syndrome and leukocyte adhesion deficiency, type iii. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 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, bone and lung, and related phenotypes are recurrent respiratory infections and generalized abnormality of skin

NIH Rare Diseases : 54 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.

OMIM : 58 Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999). (147060)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job''s... more...

GeneReviews: NBK25507

Related Diseases for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

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

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 31.9 DOCK8 PGM3 STAT3 TYK2
2 leukocyte adhesion deficiency, type iii 11.3
3 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.3
4 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.1
5 chronic granulomatous disease 10.3
6 hematopoietic stem cell transplantation 10.2
7 lymphoma 10.2
8 lung abscess 10.2
9 histoplasmosis 10.2
10 progressive multifocal leukoencephalopathy 10.1
11 fasciitis 10.1
12 necrotizing fasciitis 10.1
13 headache 10.1
14 crohn's disease 10.1
15 cryptococcosis 10.1
16 dermatitis 10.1
17 coronary artery aneurysm 10.1
18 aspergillosis 10.1
19 pelvic inflammatory disease 10.1
20 suppurative lymphadenitis 10.0 DOCK8 STAT3
21 immunodeficiency 23 10.0
22 b cell deficiency 10.0 DOCK8 STAT3
23 mixed lacrimal gland cancer 10.0 STAT3 TYK2
24 intracranial hypertension, idiopathic 9.9
25 brittle bone disorder 9.9
26 immunodeficiency 35 9.9
27 anaplastic large cell lymphoma 9.9
28 childhood type dermatomyositis 9.9
29 diabetes mellitus 9.9
30 keratoconus 9.9
31 osteochondritis dissecans 9.9
32 osteochondrosis 9.9
33 crohn's colitis 9.9
34 bone resorption disease 9.9
35 cryptococcal meningitis 9.9
36 osteomyelitis 9.9
37 dermatomyositis 9.9
38 neonatal diabetes mellitus 9.9
39 diarrhea 9.9
40 pleuropneumonia 9.9
41 calcinosis 9.9
42 nocardiosis 9.9
43 mastocytosis 9.9
44 aortic aneurysm 9.9
45 folliculitis 9.9
46 pancreatitis 9.9
47 mediastinitis 9.9
48 bullous pemphigoid 9.9
49 herpes simplex 9.9
50 amyloidosis 9.9

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



Diseases related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Symptoms & Phenotypes for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Human phenotypes related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
2 generalized abnormality of skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011354
3 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
4 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
5 atelectasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100750
6 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
7 eczema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000964
8 increased circulating total ige level 33 hallmark (90%) HP:0003212
9 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
10 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
11 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
12 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
13 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
14 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
15 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
16 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
17 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
18 gingivitis 60 33 frequent (33%) Frequent (79-30%) HP:0000230
19 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
20 cough 60 33 frequent (33%) Frequent (79-30%) HP:0012735
21 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034
22 eosinophilia 60 33 frequent (33%) Frequent (79-30%) HP:0001880
23 dystrophic fingernails 60 33 frequent (33%) Frequent (79-30%) HP:0008391
24 paronychia 60 33 frequent (33%) Frequent (79-30%) HP:0001818
25 abnormal hair morphology 33 frequent (33%) HP:0001595
26 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
27 osteomyelitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002754
28 cellulitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100658
29 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
30 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
31 skin vesicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0200037
32 dilatation 33 occasional (7.5%) HP:0002617
33 arnold-chiari type i malformation 33 very rare (1%) HP:0007099
34 hypertelorism 33 HP:0000316
35 frontal bossing 33 HP:0002007
36 high palate 33 HP:0000218
37 coarse facial features 33 HP:0000280
38 abnormality of the dentition 60 Frequent (79-30%)
39 abnormality of the face 60 Frequent (79-30%)
40 joint hypermobility 33 HP:0001382
41 recurrent infections 60 Very frequent (99-80%)
42 erythema 33 HP:0010783
43 recurrent pneumonia 33 HP:0006532
44 chronic mucocutaneous candidiasis 33 HP:0002728
45 abnormality of the hair 60 Frequent (79-30%)
46 wide nose 33 HP:0000445
47 aneurysm 60 Occasional (29-5%)
48 recurrent fungal infections 33 HP:0002841
49 persistence of primary teeth 33 HP:0006335
50 recurrent sinopulmonary infections 33 HP:0005425

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
coarse facies
asymmetric face
mild prognathism

Immunology:
recurrent fungal infections
recurrent staphylococcus aureus infections
abscesses are 'cold,' lacking erythema, heat, and swelling

Respiratory:
recurrent sinopulmonary infections

Head And Neck Nose:
broad nose
thickening of the soft tissue of the nose

Respiratory Lung:
pneumatocele formation

Skin Nails Hair Skin:
eczema, severe
recurrent skin abscesses

Skeletal Spine:
scoliosis
vertebral body abnormalities

Skeletal:
recurrent fractures
joint hyperextensibility
decreased bone mineral density

Laboratory Abnormalities:
eosinophilia
increased serum ige

Head And Neck Mouth:
high-arched palate

Head And Neck Teeth:
retained primary teeth
reduced resorption of primary tooth roots

Skeletal Skull:
craniosynostosis (rare)

Clinical features from OMIM:

147060

MGI Mouse Phenotypes related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

47
# 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, Autosomal Dominant

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Steroid Synthesis Inhibitors Phase 3
4 Hormones Phase 3
5 Cytochrome P-450 Enzyme Inhibitors Phase 3
6 Hormone Antagonists Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
9 Antiparasitic Agents Phase 3,Phase 2
10 Antifungal Agents Phase 3,Phase 2
11 Antiprotozoal Agents Phase 3,Phase 2
12
Sodium Citrate Approved, Investigational Phase 2 68-04-2
13
Histamine Approved, Investigational Phase 2 51-45-6 774
14
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
15
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
16
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
17 Immunoglobulins Phase 2,Phase 1
18 Antibodies Phase 2,Phase 1
19 Immunologic Factors Phase 2
20 Vaccines Phase 2
21 Agglutinins Phase 2
22 Gastrointestinal Agents Phase 2
23 Citrate Phase 2
24 Neurotransmitter Agents Phase 2
25 Bismuth tripotassium dicitrate Phase 2
26 Ranitidine bismuth citrate Phase 2
27 Antacids Phase 2
28 Histamine Antagonists Phase 2
29 Anti-Ulcer Agents Phase 2
30
Bismuth Phase 2 7440-69-9 105143 16682734
31 Histamine H2 Antagonists Phase 2
32
Histamine Phosphate Phase 2 51-74-1 65513
33 Anti-Bacterial Agents Phase 2,Not Applicable
34 Liposomal amphotericin B Phase 2
35 Autoantibodies Phase 2
36
Omalizumab Approved, Investigational Phase 1 242138-07-4
37 Respiratory System Agents Phase 1
38 Anti-Allergic Agents Phase 1
39 Anti-Asthmatic Agents Phase 1
40 Pharmaceutical Solutions Early Phase 1
41 Yellow Dock
42 Coagulase Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
4 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
5 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness 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 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
10 Study of Mycobacterial Infections Recruiting NCT00018044
11 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1
12 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
13 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
14 Human Immunity Against Staphylococcus Aureus Skin Infection Completed NCT02262819 Not Applicable S. aureus
15 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
16 Detection and Characterization of Infections and Infection Susceptibility Enrolling by invitation NCT00404560
17 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Cochrane evidence based reviews: job syndrome

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Genetic tests related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome 30 STAT3

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

MalaCards organs/tissues related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

42
Skin, Bone, Lung, Eye, Bone Marrow, Tongue, Neutrophil

Publications for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Articles related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

(show all 23)
# Title Authors Year
1
Job syndrome. ( 30220469 )
2019
2
Hyperimmunoglobulin E syndrome (Job syndrome): chest CT findings. ( 30020346 )
2018
3
WU polyomavirus in respiratory epithelial cells from lung transplant patient with Job syndrome. ( 25531075 )
2015
4
Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome. ( 26292779 )
2015
5
An unusual lesion of the tongue in a 4-year-old with Job syndrome. ( 23415466 )
2013
6
Hyper Ig E syndrome (Job syndrome, HIES) - radiological images of pulmonary complications on the basis of three cases. ( 22844313 )
2012
7
Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. ( 23342295 )
2012
8
Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases. ( 20861064 )
2011
9
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. ( 20093388 )
2010
10
Job syndrome masquerading as non-accidental injury. ( 17804589 )
2008
11
Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. ( 18410869 )
2008
12
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). ( 18380833 )
2008
13
STAT3 mutations in the hyper-IgE syndrome. ( 17881745 )
2007
14
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. ( 17676033 )
2007
15
STAT3 mutation in the original patient with Job's syndrome. ( 17942886 )
2007
16
Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature. ( 16778678 )
2006
17
Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections. ( 9727824 )
1998
18
[Job syndrome (hyper-IgE) and hypo-IgA. A rare association of immunodeficiencies]. ( 8725083 )
1996
19
Candida endophthalmitis in Job syndrome. ( 8619778 )
1996
20
Use of recombinant human interferon gamma to enhance neutrophil chemotactic responses in Job syndrome of hyperimmunoglobulinemia E and recurrent infections. ( 1900333 )
1991
21
Demonstration of a cold abscess by gallium-67 imaging in a patient with Job syndrome. ( 3488663 )
1986
22
Immune regulation in the hyper-IgE/Job syndrome. ( 6360246 )
1983
23
Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. ( 4161105 )
1966

Variations for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

76 (show all 14)
# 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 1, Autosomal Dominant:

6 (show top 50) (show all 86)
# 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.1387_1389delGTG (p.Val463del) deletion Pathogenic rs113994138 GRCh38 Chromosome 17, 42325038: 42325040
3 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh37 Chromosome 17, 40481661: 40481661
4 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh38 Chromosome 17, 42329643: 42329643
5 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh37 Chromosome 17, 40481660: 40481660
6 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh38 Chromosome 17, 42329642: 42329642
7 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh37 Chromosome 17, 40481441: 40481441
8 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh38 Chromosome 17, 42329423: 42329423
9 STAT3 NM_139276.2(STAT3): c.1145G> T (p.Arg382Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 40481660: 40481660
10 STAT3 NM_139276.2(STAT3): c.1145G> T (p.Arg382Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 42329642: 42329642
11 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
12 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
13 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh37 Chromosome 17, 40485737: 40485737
14 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh38 Chromosome 17, 42333719: 42333719
15 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
16 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh38 Chromosome 17, 42329448: 42329448
17 STAT3 NM_139276.2(STAT3): c.1365+146dupA duplication Uncertain significance rs143987966 GRCh37 Chromosome 17, 40477988: 40477988
18 STAT3 NM_139276.2(STAT3): c.1365+146dupA duplication Uncertain significance rs143987966 GRCh38 Chromosome 17, 42325970: 42325970
19 STAT3 STAT3: c.1601-72_1601-71del deletion Uncertain significance rs149538586 GRCh38 Chromosome 17, 42323696: 42323697
20 STAT3 STAT3: c.1601-72_1601-71del deletion Uncertain significance rs149538586 GRCh37 Chromosome 17, 40475714: 40475715
21 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh37 Chromosome 17, 40475383: 40475383
22 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh38 Chromosome 17, 42323365: 42323365
23 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh37 Chromosome 17, 40475138: 40475138
24 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh38 Chromosome 17, 42323120: 42323120
25 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh37 Chromosome 17, 40475130: 40475130
26 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh38 Chromosome 17, 42323112: 42323112
27 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh37 Chromosome 17, 40474431: 40474431
28 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh38 Chromosome 17, 42322413: 42322413
29 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh37 Chromosome 17, 40469210: 40469210
30 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh38 Chromosome 17, 42317192: 42317192
31 STAT3 STAT3: c.469-34_469-30del deletion Uncertain significance rs140846959 GRCh38 Chromosome 17, 42338842: 42338846
32 STAT3 STAT3: c.469-34_469-30del deletion Uncertain significance rs140846959 GRCh37 Chromosome 17, 40490860: 40490864
33 STAT3 NM_139276.2(STAT3): c.711C> T (p.Asp237=) single nucleotide variant Benign rs17882069 GRCh37 Chromosome 17, 40489539: 40489539
34 STAT3 NM_139276.2(STAT3): c.711C> T (p.Asp237=) single nucleotide variant Benign rs17882069 GRCh38 Chromosome 17, 42337521: 42337521
35 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh37 Chromosome 17, 40481639: 40481639
36 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh38 Chromosome 17, 42329621: 42329621
37 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh37 Chromosome 17, 40477064: 40477064
38 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh38 Chromosome 17, 42325046: 42325046
39 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh37 Chromosome 17, 40468917: 40468917
40 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh38 Chromosome 17, 42316899: 42316899
41 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Pathogenic rs869312890 GRCh37 Chromosome 17, 40491346: 40491346
42 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Pathogenic rs869312890 GRCh38 Chromosome 17, 42339328: 42339328
43 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh38 Chromosome 17, 42323038: 42323038
44 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh37 Chromosome 17, 40475056: 40475056
45 STAT3 NM_139276.2(STAT3): c.2117T> C (p.Leu706Pro) single nucleotide variant Likely pathogenic rs1131691476 GRCh37 Chromosome 17, 40469227: 40469227
46 STAT3 NM_139276.2(STAT3): c.2117T> C (p.Leu706Pro) single nucleotide variant Likely pathogenic rs1131691476 GRCh38 Chromosome 17, 42317209: 42317209
47 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic rs1555563871 GRCh37 Chromosome 17, 40475057: 40475057
48 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic rs1555563871 GRCh38 Chromosome 17, 42323039: 42323039
49 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic rs1555566820 GRCh37 Chromosome 17, 40485754: 40485754
50 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic rs1555566820 GRCh38 Chromosome 17, 42333736: 42333736

Expression for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Search GEO for disease gene expression data for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant.

Pathways for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Pathways related to Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 IL17A IRAK4 STAT3 TYK2
2
Show member pathways
12.22 IL17A STAT3 TYK2
3
Show member pathways
12.2 IL17A STAT3 TYK2
4
Show member pathways
11.7 IRAK4 STAT3 TYK2
5
Show member pathways
11.64 STAT3 TYK2
6
Show member pathways
11.55 IL17A STAT3
7 11.54 STAT3 TYK2
8
Show member pathways
11.45 IL17A STAT3 TYK2
9 11.44 IL17A IRAK4 STAT3 TYK2
10 11.4 IRAK4 STAT3
11
Show member pathways
11.32 STAT3 TYK2
12 11.29 STAT3 TYK2
13 11.24 STAT3 TYK2
14 11.21 STAT3 TYK2
15 11.19 IL17A STAT3 TYK2
16 11.12 STAT3 TYK2
17 11.06 STAT3 TYK2
18
Show member pathways
11.02 STAT3 TYK2
19 10.95 STAT3 TYK2
20
Show member pathways
10.83 STAT3 TYK2
21 10.6 STAT3 TYK2

GO Terms for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

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

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

Sources for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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