HIES1
MCID: HYP828
MIFTS: 48

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 56 73 29 6
Job Syndrome 56 74 25 58 73
Ad-Hies 24 52 25 58
Hyper-Ige Recurrent Infection Syndrome 56 29 13
Stat3 Deficiency 24 25 58
Buckley Syndrome 25 58 73
Autosomal Dominant Hyper Ige Syndrome 24 52
Autosomal Dominant Hyper-Ige Syndrome 25 58
Hyperimmunoglobulin E Syndrome Type 1 58 73
Stat3-Deficient Hyper Ige Syndrome 24 25
Hies Autosomal Dominant 52 73
Autosomal Dominant Hies 25 58
Job's Syndrome 24 25
Hies1 56 73
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 52
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 25
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 25
Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant 73
Hyperimmunoglobulin E-Recurrent Infection Syndrome 58
Autosomal Dominant Hyperimmunoglobulin E Syndrome 58
Hyper Ig E Syndrome, Autosomal Dominant 52
Hyper-Ige Syndrome, Autosomal Dominant 56
Hyper-Ige Syndrome Autosomal Dominant 73
Ad Hyperimmunoglobulin E Syndrome 52
Job Syndrome Autosomal Dominant 52
Autosomal Dominant Job Syndrome 25
Hies, Autosomal Dominant 56
Job-Buckley Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

31
hyper-ige recurrent infection syndrome 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


GeneReviews:

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

Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


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

Genetics Home Reference : 25 Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly 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. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent 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. For unknown reasons, people with AD-HIES have abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and is involved in allergies. However, IgE is not needed for these roles in people with AD-HIES, and it is unclear why affected individuals have such high levels of the protein without having allergies. AD-HIES also affects other parts of the body, including the bones and teeth. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency for bones to fracture easily. A common dental abnormality in this condition is that the primary (baby) teeth do not fall out at the usual time during childhood but are retained as the adult teeth grow in. Other signs and symptoms of AD-HIES can include abnormalities of the arteries that supply blood to the heart muscle (coronary arteries), distinctive facial features, and structural abnormalities of the brain, which do not affect a person's intelligence.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant, also known as job syndrome, is related to hyper ige recurrent infection syndrome 2 and hyper ige recurrent infection syndrome 3. An important gene associated with Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant is STAT3 (Signal Transducer And Activator Of Transcription 3). The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are recurrent respiratory infections and generalized abnormality of skin

NIH Rare Diseases : 52 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 : 56 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 : 73 Hyper-IgE recurrent infection syndrome 1, autosomal dominant: A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.

Wikipedia : 74 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... 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
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, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 hyper ige recurrent infection syndrome 2 12.7
2 hyper ige recurrent infection syndrome 3 12.7
3 hyper ige recurrent infection syndrome 4 12.7
4 hyper ige recurrent infection syndrome 1 11.7
5 dock8 immunodeficiency syndrome 11.7
6 leukocyte adhesion deficiency, type i 11.4
7 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.4
8 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.2
9 hyper-ige recurrent infection syndrome 4, autosomal recessive 11.2
10 candidiasis 10.4
11 exanthem 10.3
12 hernia, hiatus 10.3
13 esophagitis, eosinophilic, 1 10.3
14 streptococcus pneumonia 10.3
15 esophagitis 10.3
16 dysphagia 10.3
17 hyper ige syndrome 10.3
18 histoplasmosis 10.2
19 lung abscess 10.2
20 oral candidiasis 10.2
21 peritonitis 10.2
22 dermatitis 10.1
23 hypereosinophilic syndrome 10.1
24 dermatomyositis 10.1
25 childhood type dermatomyositis 10.1
26 demyelinating disease 10.1
27 progressive multifocal leukoencephalopathy 10.1
28 dermatitis, atopic 10.1
29 craniosynostosis 10.1
30 coronary artery aneurysm 10.1
31 osteomyelitis 10.1
32 cryptococcosis 10.1
33 crohn's disease 10.1
34 molluscum contagiosum 10.1
35 neurofibromatosis, type ii 10.1
36 gastroesophageal reflux 10.1
37 otitis media 10.1
38 anemia, autoimmune hemolytic 10.1
39 atrophoderma vermiculata 10.1
40 aspiration pneumonia 10.1
41 skin atrophy 10.1
42 folliculitis 10.1
43 hemolytic anemia 10.1
44 rare systemic disease 10.1
45 immunodeficiency 23 10.1
46 membranoproliferative glomerulonephritis 10.1
47 diaphragmatic hernia, congenital 9.9
48 retinal detachment 9.9
49 chediak-higashi syndrome 9.9
50 mycobacterium tuberculosis 1 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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 generalized abnormality of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011354
3 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
4 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
5 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
6 atelectasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100750
7 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
8 increased circulating total ige level 31 hallmark (90%) HP:0003212
9 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
12 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
13 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
16 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
17 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
18 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
19 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
20 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
21 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
22 eosinophilia 58 31 frequent (33%) Frequent (79-30%) HP:0001880
23 dystrophic fingernails 58 31 frequent (33%) Frequent (79-30%) HP:0008391
24 paronychia 58 31 frequent (33%) Frequent (79-30%) HP:0001818
25 abnormal hair morphology 31 frequent (33%) HP:0001595
26 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
27 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
28 skin vesicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0200037
29 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
30 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
31 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
32 dilatation 31 occasional (7.5%) HP:0002617
33 arnold-chiari type i malformation 31 very rare (1%) HP:0007099
34 hypertelorism 31 HP:0000316
35 frontal bossing 31 HP:0002007
36 high palate 31 HP:0000218
37 coarse facial features 31 HP:0000280
38 abnormality of the dentition 58 Frequent (79-30%)
39 erythema 31 HP:0010783
40 abnormality of the face 58 Frequent (79-30%)
41 joint hypermobility 31 HP:0001382
42 recurrent infections 58 Very frequent (99-80%)
43 recurrent pneumonia 31 HP:0006532
44 chronic mucocutaneous candidiasis 31 HP:0002728
45 abnormality of the hair 58 Frequent (79-30%)
46 wide nose 31 HP:0000445
47 aneurysm 58 Occasional (29-5%)
48 recurrent fungal infections 31 HP:0002841
49 increased ige level 58 Very frequent (99-80%)
50 persistence of primary teeth 31 HP:0006335

Symptoms via clinical synopsis from OMIM:

56
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

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 40)
# 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 Anti-Infective Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Antiparasitic Agents Phase 3
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Steroid Synthesis Inhibitors Phase 3
9 Hormone Antagonists Phase 3
10 Hormones Phase 3
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
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 Vaccines Phase 2
16 Agglutinins Phase 2
17 Immunologic Factors Phase 2
18 Antibodies Phase 2
19 Immunoglobulins Phase 2
20 Autoantibodies Phase 2
21 Anti-Bacterial Agents Phase 2
22 Liposomal amphotericin B Phase 2
23 Gastrointestinal Agents Phase 2
24 Anti-Ulcer Agents Phase 2
25 Citrate Phase 2
26 Neurotransmitter Agents Phase 2
27 Histamine Antagonists Phase 2
28 Bismuth tripotassium dicitrate Phase 2
29 Ranitidine bismuth citrate Phase 2
30
Bismuth Phase 2 7440-69-9 16682734 105143
31 Antacids Phase 2
32 Histamine H2 Antagonists Phase 2
33
Histamine Phosphate Phase 2 51-74-1 65513
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Anti-Asthmatic Agents Phase 1
36 Respiratory System Agents Phase 1
37 Anti-Allergic Agents Phase 1
38 Anti-Inflammatory Agents
39 Yellow Dock
40 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 14)
# 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 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
13 NIH Participation to USIDNET Registry Recruiting NCT01953016
14 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, Autosomal Dominant

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 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 29 STAT3
2 Hyper-Ige Recurrent Infection Syndrome 29

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

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

40
Bone, Skin, Lung, Brain, Heart, Bone Marrow, Eye

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

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

(show top 50) (show all 99)
# Title Authors PMID Year
1
STAT3 mutations in the hyper-IgE syndrome. 6 24 56
17881745 2007
2
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 24 56 6
17676033 2007
3
Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 56 6
23342295 2012
4
STAT3 mutation in the original patient with Job's syndrome. 56 6
17942886 2007
5
The face of Job. 56 61 24
9709729 1998
6
Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. 6 56
4161105 1966
7
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. 24 56
22118528 2011
8
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 24 56
18591410 2008
9
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 6 24
18602572 2008
10
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 24 56
18337720 2008
11
Genetic linkage of hyper-IgE syndrome to chromosome 4. 56 24
10441580 1999
12
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 56 24
10053178 1999
13
Raised serum-IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. 24 56
4129875 1974
14
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. 56
24159173 2013
15
Intracranial aneurysms associated with hyperimmunoglobulinaemia E (Job) syndrome: report of two cases. 61 24
20861064 2011
16
Diverticulitis in a young man with hyper-IgE syndrome. 61 24
21037522 2010
17
Autosomal Dominant Hyper IgE Syndrome 6
20301786 2010
18
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. 56
18591412 2008
19
Effects of allogeneic peripheral stem cell transplantation in a patient with job syndrome of hyperimmunoglobulinemia E and recurrent infections. 24 61
9727824 1998
20
Job's syndrome: a rare cause of recurrent lung abscess in childhood. 56
2241394 1990
21
Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. 56
3279022 1988
22
Potentiation of human immunoglobulin E synthesis by plasma immunoglobulin E binding factors from patients with the hyperimmunoglobulin E syndrome. 56
3485112 1986
23
Craniosynostosis in hyper-IgE-syndrome. 56
4076261 1985
24
Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. 56
4011897 1985
25
Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. 56
3871199 1985
26
The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature. 56
6348470 1983
27
Levamisole in Job's syndrome. 56
7144828 1982
28
Osteogenesis imperfecta tarda in a child with hyper-IgE syndrome. 56
6981344 1982
29
Levamisole is inferior to placebo in the hyperimmunoglobulin E recurrent-infection (Job's) syndrome. 56
6806658 1982
30
Combined neutrophil and T-cell deficiency: initial report of a kindred with features of the hyper-IgE syndrome and chronic granulomatous disease. 56
6979928 1982
31
Mononuclear cells from patients with the hyperimmunoglobulin E-recurrent infection syndrome produce an inhibitor of leukocyte chemotaxis. 56
7068851 1982
32
Deficiency of suppressor T cells in the hyperimmunoglobulin E syndrome. 56
6456275 1981
33
Abnormalities in the regulation of human IgE synthesis. 56
360511 1978
34
Recurrent severe staphylococcal infections, eczematoid rash, extreme elevations of IgE, eosinophilia, and divergent chemotactic responses in two generations. 56
839376 1977
35
A familial defect in cellular chemotaxis associated with redheadedness and recurrent infection. 56
932900 1976
36
Familial neutrophil chemotaxis defect, recurrent bacterial infections, mucocutaneous candidiasis, and hyperimmunoglobulinemia E. 56
1138587 1975
37
Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses. 56
4137601 1974
38
Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. 56
5059313 1972
39
Job's syndrome--a variant of chronic granulomatous disease. Report of a case. 56
5815897 1969
40
Leucocytes in Job's syndrome. 56
4180157 1969
41
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. 24
22402565 2012
42
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency. 24
22084479 2012
43
Coronary artery abnormalities in Hyper-IgE syndrome. 24
21494893 2011
44
Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES). 24
21288777 2011
45
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 24
20816194 2010
46
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. 24
20584545 2010
47
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 24
20159255 2010
48
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 24
20004785 2009
49
Combined immunodeficiency associated with DOCK8 mutations. 24
19776401 2009
50
Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. 24
18173452 2008

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

ClinVar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant:

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT3 NM_003150.4(STAT3):c.1384_1386GTG[1] (p.Val463del)short repeat Pathogenic 18303 rs113994138 17:40477056-40477058 17:42325038-42325040
2 STAT3 NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp)SNV Pathogenic 18304 rs113994135 17:40481661-40481661 17:42329643-42329643
3 STAT3 NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln)SNV Pathogenic 18305 rs113994136 17:40481660-40481660 17:42329642-42329642
4 STAT3 NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln)SNV Pathogenic 18306 rs113994137 17:40481441-40481441 17:42329423-42329423
5 STAT3 NM_139276.2(STAT3):c.1145G>T (p.Arg382Leu)SNV Pathogenic 18307 rs113994136 17:40481660-40481660 17:42329642-42329642
6 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met)SNV Pathogenic 18308 rs113994139 17:40474492-40474492 17:42322474-42322474
7 STAT3 NM_139276.2(STAT3):c.2147C>T (p.Thr716Met)SNV Pathogenic 224848 rs869312892 17:40468917-40468917 17:42316899-42316899
8 STAT3 NM_139276.2(STAT3):c.454C>T (p.Arg152Trp)SNV Pathogenic 224846 rs869312890 17:40491346-40491346 17:42339328-42339328
9 STAT3 NM_139276.2(STAT3):c.1166C>T (p.Thr389Ile)SNV Pathogenic 64689 rs397514766 17:40481639-40481639 17:42329621-42329621
10 STAT3 NM_139276.2(STAT3):c.1853G>A (p.Gly618Asp)SNV Pathogenic 430904 rs1555563871 17:40475057-40475057 17:42323039-42323039
11 STAT3 NM_139276.2(STAT3):c.1311C>A (p.His437Gln)SNV Pathogenic 664121 17:40478188-40478188 17:42326170-42326170
12 STAT3 NM_139276.2(STAT3):c.2117T>C (p.Leu706Pro)SNV Pathogenic/Likely pathogenic 429592 rs1131691476 17:40469227-40469227 17:42317209-42317209
13 STAT3 NM_139276.2(STAT3):c.1979T>C (p.Met660Thr)SNV Pathogenic/Likely pathogenic 265261 rs886039434 17:40474422-40474422 17:42322404-42322404
14 STAT3 NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys)SNV Pathogenic/Likely pathogenic 36784 rs193922717 17:40481466-40481466 17:42329448-42329448
15 STAT3 NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp)SNV Likely pathogenic 36783 rs193922716 17:40485737-40485737 17:42333719-42333719
16 STAT3 NM_139276.2(STAT3):c.1772A>T (p.Lys591Met)SNV Likely pathogenic 36788 rs193922719 17:40475138-40475138 17:42323120-42323120
17 STAT3 NM_139276.2(STAT3):c.1780G>A (p.Glu594Lys)SNV Likely pathogenic 36789 rs193922720 17:40475130-40475130 17:42323112-42323112
18 STAT3 NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys)SNV Likely pathogenic 36790 rs193922721 17:40474431-40474431 17:42322413-42322413
19 STAT3 NM_139276.2(STAT3):c.2134T>C (p.Cys712Arg)SNV Likely pathogenic 36791 rs193922722 17:40469210-40469210 17:42317192-42317192
20 STAT3 NM_139276.2(STAT3):c.986T>A (p.Met329Lys)SNV Likely pathogenic 476197 rs1555566820 17:40485754-40485754 17:42333736-42333736
21 STAT3 NM_139276.2(STAT3):c.1976T>A (p.Ile659Asn)SNV Likely pathogenic 495061 rs1555563717 17:40474425-40474425 17:42322407-42322407
22 STAT3 NM_139276.2(STAT3):c.2228G>T (p.Gly743Val)SNV Conflicting interpretations of pathogenicity 514074 rs151033214 17:40468836-40468836 17:42316818-42316818
23 STAT3 NM_139276.2(STAT3):c.832C>T (p.Arg278Cys)SNV Uncertain significance 450010 rs1555566945 17:40486033-40486033 17:42334015-42334015
24 STAT3 NM_139276.2(STAT3):c.1230C>G (p.His410Gln)SNV Uncertain significance 649873 17:40481575-40481575 17:42329557-42329557
25 STAT3 NM_139276.2(STAT3):c.1199A>T (p.Asn400Ile)SNV Uncertain significance 653749 17:40481606-40481606 17:42329588-42329588
26 STAT3 NM_139276.2(STAT3):c.875C>G (p.Ser292Cys)SNV Uncertain significance 660373 17:40485990-40485990 17:42333972-42333972
27 STAT3 NM_139276.2(STAT3):c.779T>C (p.Leu260Pro)SNV Uncertain significance 654844 17:40489471-40489471 17:42337453-42337453
28 STAT3 NM_139276.2(STAT3):c.385G>A (p.Ala129Thr)SNV Uncertain significance 649925 17:40491415-40491415 17:42339397-42339397
29 STAT3 NM_139276.2(STAT3):c.103G>T (p.Ala35Ser)SNV Uncertain significance 657535 17:40500432-40500432 17:42348414-42348414
30 STAT3 NM_139276.2(STAT3):c.70G>A (p.Asp24Asn)SNV Uncertain significance 656613 17:40500465-40500465 17:42348447-42348447
31 STAT3 NM_139276.2(STAT3):c.373-5G>ASNV Uncertain significance 664860 17:40491432-40491432 17:42339414-42339414
32 STAT3 NM_139276.2(STAT3):c.1328C>T (p.Thr443Ile)SNV Uncertain significance 542784 rs1555564776 17:40478171-40478171 17:42326153-42326153
33 STAT3 STAT3:c.469-34_469-30deldeletion Uncertain significance 36792 rs140846959 17:40490860-40490864 17:42338842-42338846
34 STAT3 NM_139276.2(STAT3):c.1365+140dupduplication Uncertain significance 36785 rs143987966 17:40477988-40477988 17:42325970-42325970
35 STAT3 STAT3:c.1601-72_1601-71delshort repeat Uncertain significance 36786 rs149538586 17:40475714-40475715 17:42323696-42323697
36 STAT3 NM_139276.2(STAT3):c.498G>C (p.Glu166Asp)SNV Uncertain significance 542783 rs1555568530 17:40490801-40490801 17:42338783-42338783
37 STAT3 NM_139276.2(STAT3):c.973C>T (p.Arg325Trp)SNV Uncertain significance 566291 rs1567718244 17:40485767-40485767 17:42333749-42333749
38 STAT3 NM_139276.2(STAT3):c.1859C>T (p.Thr620Ile)SNV Uncertain significance 568201 rs1567708034 17:40475051-40475051 17:42323033-42323033
39 STAT3 NM_139276.2(STAT3):c.1636T>C (p.Trp546Arg)SNV Uncertain significance 570821 rs1567708724 17:40475608-40475608 17:42323590-42323590
40 STAT3 NM_139276.2(STAT3):c.1249A>G (p.Arg417Gly)SNV Uncertain significance 581180 rs1567713821 17:40481460-40481460 17:42329442-42329442
41 STAT3 NM_139276.2(STAT3):c.1906T>C (p.Ser636Pro)SNV Uncertain significance 582348 rs1567707544 17:40474495-40474495 17:42322477-42322477
42 STAT3 NM_139276.2(STAT3):c.523A>C (p.Asn175His)SNV Uncertain significance 582920 17:40490776-40490776 17:42338758-42338758
43 STAT3 NM_139276.2(STAT3):c.1600+5G>ASNV Uncertain significance 567618 17:40476724-40476724 17:42324706-42324706
44 STAT3 NM_139276.2(STAT3):c.307C>T (p.Arg103Trp)SNV Uncertain significance 566510 rs1408283351 17:40497642-40497642 17:42345624-42345624
45 STAT3 NM_139276.2(STAT3):c.274-3T>CSNV Uncertain significance 568862 17:40497678-40497678 17:42345660-42345660
46 STAT3 NM_139276.2(STAT3):c.38G>A (p.Arg13Gln)SNV Uncertain significance 582847 17:40500497-40500497 17:42348479-42348479
47 STAT3 NM_139276.2(STAT3):c.1993A>T (p.Ile665Phe)SNV Uncertain significance 661329 17:40474408-40474408 17:42322390-42322390
48 STAT3 NM_139276.2(STAT3):c.1905G>C (p.Gln635His)SNV Uncertain significance 654079 17:40474496-40474496 17:42322478-42322478
49 STAT3 NM_139276.2(STAT3):c.1831A>G (p.Ser611Gly)SNV Uncertain significance 661648 17:40475079-40475079 17:42323061-42323061
50 STAT3 NM_139276.2(STAT3):c.1516G>A (p.Glu506Lys)SNV Uncertain significance 659139 17:40476813-40476813 17:42324795-42324795

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

73 (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

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

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

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

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