AD-HIES
MCID: HYP756
MIFTS: 57

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant (AD-HIES)

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

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

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

Name: Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 57 73
Job Syndrome 57 12 76 25 59 75 44 73
Ad-Hies 24 53 25 59 75
Hyperimmunoglobulin E Syndrome 12 29 6 40
Stat3 Deficiency 24 25 59
Buckley Syndrome 25 59 75
Job's Syndrome 12 25 15
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 53 75
Hyper-Ige Recurrent Infection Syndrome 57 13
Autosomal Dominant Hyper Ige Syndrome 24 53
Autosomal Dominant Hyper-Ige Syndrome 25 59
Hyperimmunoglobulin E Syndrome Type 1 59 75
Stat3-Deficient Hyper Ige Syndrome 24 25
Hies Autosomal Dominant 53 75
Autosomal Dominant Hies 25 59
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 25
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 25
Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant 75
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 73
Hyperimmunoglobulin E-Recurrent Infection Syndrome 59
Autosomal Dominant Hyperimmunoglobulin E Syndrome 59
Hyper Ig E Syndrome, Autosomal Dominant 53
Hyper-Ige Syndrome, Autosomal Dominant 57
Hyper-Ige Syndrome Autosomal Dominant 75
Ad Hyperimmunoglobulin E Syndrome 53
Job Syndrome Autosomal Dominant 53
Autosomal Dominant Job Syndrome 25
Hies, Autosomal Dominant 57
Job-Buckley Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

32
hyper-ige recurrent infection syndrome, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

Genetics Home Reference : 25 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, Autosomal Dominant, also known as job syndrome, is related to hyper ige syndrome and hyper-ige recurrent infection syndrome, autosomal recessive. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Influenza A. Affiliated tissues include skin, bone and lung, and related phenotypes are osteopenia and scoliosis

NIH Rare Diseases : 53 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 : 57 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 : 75 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 : 76 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, Autosomal Dominant

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

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 29.9 TYK2 STAT3 PGM3 DOCK8
2 hyper-ige recurrent infection syndrome, autosomal recessive 12.9
3 leukocyte adhesion deficiency, type iii 11.3
4 hematopoietic stem cell transplantation 10.2
5 progressive multifocal leukoencephalopathy 10.1
6 aspergillosis 10.1
7 hypereosinophilic syndrome 10.1
8 fasciitis 10.1
9 necrotizing fasciitis 10.1
10 headache 10.1
11 coronary artery aneurysm 10.1
12 suppurative lymphadenitis 10.0 STAT3 DOCK8
13 mixed lacrimal gland cancer 10.0 TYK2 STAT3
14 intracranial hypertension, idiopathic 9.9
15 dermatitis, atopic 9.9
16 brittle bone disorder 9.9
17 immunodeficiency 35 9.9
18 childhood type dermatomyositis 9.9
19 chronic granulomatous disease 9.9
20 diabetes mellitus 9.9
21 osteochondritis dissecans 9.9
22 bone resorption disease 9.9
23 cryptococcal meningitis 9.9
24 dermatomyositis 9.9
25 endocarditis 9.9
26 neonatal diabetes mellitus 9.9
27 diarrhea 9.9
28 pleuropneumonia 9.9
29 histoplasmosis 9.9
30 calcinosis 9.9
31 nocardiosis 9.9
32 dermatitis 9.9
33 folliculitis 9.9
34 mediastinitis 9.9
35 bullous pemphigoid 9.9
36 herpes simplex 9.9
37 molluscum contagiosum 9.9
38 amyloidosis 9.9
39 meningitis 9.9
40 col1a1/2-related osteogenesis imperfecta 9.9
41 amyloidosis aa 9.9
42 eosinophilic pustular folliculitis 9.9
43 gianotti crosti syndrome 9.9
44 orofacial granulomatosis 9.9
45 autoimmune enteropathy 9.9 STAT3 IL17A
46 chronic mucocutaneous candidiasis 9.9 STAT3 IL17A
47 intestinal disease 9.9 STAT3 IL17A
48 polycythemia vera 9.8 TYK2 STAT3
49 gastrointestinal system disease 9.8 STAT3 IL17A
50 bacterial infectious disease 9.8 IRAK4 IL17A

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



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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
4 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
5 generalized abnormality of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011354
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
8 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
9 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
10 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
11 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
12 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
13 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
14 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
15 atelectasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100750
16 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
17 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
18 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
19 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
20 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
21 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
22 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
23 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
24 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
25 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
26 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595
27 skin vesicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0200037
28 eosinophilia 59 32 frequent (33%) Frequent (79-30%) HP:0001880
29 dystrophic fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0008391
30 paronychia 59 32 frequent (33%) Frequent (79-30%) HP:0001818
31 increased ige level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003212
32 hypertelorism 32 HP:0000316
33 frontal bossing 32 HP:0002007
34 high palate 32 HP:0000218
35 coarse facial features 32 HP:0000280
36 abnormality of the dentition 59 Frequent (79-30%)
37 abnormality of the face 59 Frequent (79-30%)
38 joint hypermobility 32 HP:0001382
39 recurrent infections 59 Very frequent (99-80%)
40 erythema 32 HP:0010783
41 wide nose 32 HP:0000445
42 aneurysm 59 Occasional (29-5%)
43 recurrent fungal infections 32 HP:0002841
44 persistence of primary teeth 32 HP:0006335
45 recurrent sinopulmonary infections 32 HP:0005425
46 eczematoid dermatitis 32 HP:0000976
47 recurrent staphylococcus aureus infections 32 HP:0002726
48 dilatation 32 occasional (7.5%) HP:0002617

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

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, Autosomal Dominant

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

Cochrane evidence based reviews: job syndrome

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

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

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome 29 STAT3

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

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

41
Skin, Bone, Lung, Eye, Tongue, Neutrophil

Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

(show all 18)
# Title Authors Year
1
Hyperimmunoglobulin E syndrome (Job syndrome): chest CT findings. ( 30020346 )
2018
2
Job syndrome. ( 30220469 )
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
Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases. ( 20861064 )
2011
8
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. ( 20093388 )
2010
9
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). ( 18380833 )
2008
10
Job syndrome masquerading as non-accidental injury. ( 17804589 )
2008
11
Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. ( 18410869 )
2008
12
Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature. ( 16778678 )
2006
13
Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections. ( 9727824 )
1998
14
[Job syndrome (hyper-IgE) and hypo-IgA. A rare association of immunodeficiencies]. ( 8725083 )
1996
15
Candida endophthalmitis in Job syndrome. ( 8619778 )
1996
16
Use of recombinant human interferon gamma to enhance neutrophil chemotactic responses in Job syndrome of hyperimmunoglobulinemia E and recurrent infections. ( 1900333 )
1991
17
Demonstration of a cold abscess by gallium-67 imaging in a patient with Job syndrome. ( 3488663 )
1986
18
Immune regulation in the hyper-IgE/Job syndrome. ( 6360246 )
1983

Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

75 (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, Autosomal Dominant:

6 (show top 50) (show all 85)
# 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 STAT3, ARG383LEU single nucleotide variant Pathogenic
10 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
11 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
12 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh37 Chromosome 17, 40485737: 40485737
13 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh38 Chromosome 17, 42333719: 42333719
14 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
15 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh38 Chromosome 17, 42329448: 42329448
16 STAT3 NM_139276.2(STAT3): c.1365+146dupA duplication Uncertain significance rs193922718 GRCh37 Chromosome 17, 40477988: 40477988
17 STAT3 NM_139276.2(STAT3): c.1365+146dupA duplication Uncertain significance rs193922718 GRCh38 Chromosome 17, 42325970: 42325970
18 STAT3 STAT3: c.1601-72_1601-71del deletion Uncertain significance rs149538586 GRCh38 Chromosome 17, 42323696: 42323697
19 STAT3 STAT3: c.1601-72_1601-71del deletion Uncertain significance rs149538586 GRCh37 Chromosome 17, 40475714: 40475715
20 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh37 Chromosome 17, 40475383: 40475383
21 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh38 Chromosome 17, 42323365: 42323365
22 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh37 Chromosome 17, 40475138: 40475138
23 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh38 Chromosome 17, 42323120: 42323120
24 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh37 Chromosome 17, 40475130: 40475130
25 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh38 Chromosome 17, 42323112: 42323112
26 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh37 Chromosome 17, 40474431: 40474431
27 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh38 Chromosome 17, 42322413: 42322413
28 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh37 Chromosome 17, 40469210: 40469210
29 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh38 Chromosome 17, 42317192: 42317192
30 STAT3 STAT3: c.469-34_469-30del deletion Uncertain significance rs140846959 GRCh38 Chromosome 17, 42338842: 42338846
31 STAT3 STAT3: c.469-34_469-30del deletion Uncertain significance rs140846959 GRCh37 Chromosome 17, 40490860: 40490864
32 STAT3 NM_139276.2(STAT3): c.711C> T (p.Asp237=) single nucleotide variant Benign rs17882069 GRCh37 Chromosome 17, 40489539: 40489539
33 STAT3 NM_139276.2(STAT3): c.711C> T (p.Asp237=) single nucleotide variant Benign rs17882069 GRCh38 Chromosome 17, 42337521: 42337521
34 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh37 Chromosome 17, 40481639: 40481639
35 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh38 Chromosome 17, 42329621: 42329621
36 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh37 Chromosome 17, 40477064: 40477064
37 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh38 Chromosome 17, 42325046: 42325046
38 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh37 Chromosome 17, 40468917: 40468917
39 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh38 Chromosome 17, 42316899: 42316899
40 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Pathogenic rs869312890 GRCh37 Chromosome 17, 40491346: 40491346
41 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Pathogenic rs869312890 GRCh38 Chromosome 17, 42339328: 42339328
42 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh38 Chromosome 17, 42323038: 42323038
43 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh37 Chromosome 17, 40475056: 40475056
44 STAT3 NM_139276.2(STAT3): c.2117T> C (p.Leu706Pro) single nucleotide variant Likely pathogenic rs1131691476 GRCh37 Chromosome 17, 40469227: 40469227
45 STAT3 NM_139276.2(STAT3): c.2117T> C (p.Leu706Pro) single nucleotide variant Likely pathogenic rs1131691476 GRCh38 Chromosome 17, 42317209: 42317209
46 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 40475057: 40475057
47 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 42323039: 42323039
48 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 42333736: 42333736
49 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 40485754: 40485754
50 STAT3 NM_003150.3(STAT3): c.1976T> A (p.Ile659Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 40474425: 40474425

Expression for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

Pathways for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 IL17A IRAK4 STAT3 TYK2
2
Show member pathways
12.46 IRAK4 STAT3 TYK2
3
Show member pathways
12.24 IL17A STAT3 TYK2
4
Show member pathways
12.22 IL17A STAT3 TYK2
5 11.85 IRAK4 STAT3 TYK2
6 11.74 STAT3 TYK2
7
Show member pathways
11.7 IRAK4 STAT3 TYK2
8
Show member pathways
11.66 STAT3 TYK2
9
Show member pathways
11.57 IL17A STAT3
10 11.56 STAT3 TYK2
11
Show member pathways
11.53 STAT3 TYK2
12
Show member pathways
11.45 IL17A STAT3 TYK2
13 11.44 IL17A IRAK4 STAT3 TYK2
14 11.4 IRAK4 STAT3
15
Show member pathways
11.33 STAT3 TYK2
16 11.3 STAT3 TYK2
17 11.25 STAT3 TYK2
18 11.23 STAT3 TYK2
19 11.19 IL17A STAT3 TYK2
20 11.14 STAT3 TYK2
21 11.08 STAT3 TYK2
22
Show member pathways
11.05 STAT3 TYK2
23 10.98 STAT3 TYK2
24
Show member pathways
10.87 STAT3 TYK2
25 10.6 STAT3 TYK2

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

Biological processes related to Hyper-Ige Recurrent Infection Syndrome, 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, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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