HIES1
MCID: HYP828
MIFTS: 57

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious 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 57 72 29 6
Job Syndrome 57 73 43 58 72
Hyper-Ige Recurrent Infection Syndrome 57 29 13
Buckley Syndrome 43 58 72
Ad-Hies 20 43 58
Autosomal Dominant Hyper-Ige Syndrome 43 58
Hyperimmunoglobulin E Syndrome Type 1 58 72
Hies Autosomal Dominant 20 72
Autosomal Dominant Hies 43 58
Stat3 Deficiency 43 58
Hies1 57 72
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 20
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 43
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 43
Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant 72
Hyperimmunoglobulin E-Recurrent Infection Syndrome 58
Autosomal Dominant Hyperimmunoglobulin E Syndrome 58
Hyper Ig E Syndrome, Autosomal Dominant 20
Hyper-Ige Syndrome, Autosomal Dominant 57
Autosomal Dominant Hyper Ige Syndrome 20
Hyper-Ige Syndrome Autosomal Dominant 72
Stat3-Deficient Hyper Ige Syndrome 43
Ad Hyperimmunoglobulin E Syndrome 20
Job Syndrome Autosomal Dominant 20
Autosomal Dominant Job Syndrome 43
Hies, Autosomal Dominant 57
Job-Buckley Syndrome 43
Job's Syndrome 43

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®:

57 (Updated 20-May-2021)
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


Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


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

MedlinePlus Genetics : 43 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 syndrome and hyper ige recurrent infection syndrome 1. 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 Human cytomegalovirus infection and NFAT and Cardiac Hypertrophy. The drugs Posaconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and lung, and related phenotypes are generalized abnormality of skin and recurrent respiratory infections

GARD : 20 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. Other more variable immunologic abnormalities include defective granulocyte chemotaxis, abnormalities in T-lymphocyte subgroups, impaired antibody production, and decreased production of or response to certain cytokines. Importantly, the same immune system defects are not found in all patients. Some patients may have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999). (147060) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

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 5, 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 130)
# Related Disease Score Top Affiliating Genes
1 hyper ige syndrome 31.5 STAT3 IL6ST
2 hyper ige recurrent infection syndrome 1 31.5 STAT3 IL6ST
3 hyper ige recurrent infection syndrome 2 11.4
4 hyper ige recurrent infection syndrome 3 11.4
5 hyper ige recurrent infection syndrome 4 11.4
6 dock8 immunodeficiency syndrome 11.4
7 leukocyte adhesion deficiency, type i 11.3
8 stat3 hyper ige syndrome 11.1
9 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.1
10 hyper-ige recurrent infection syndrome 3, autosomal recessive 10.9
11 hyper-ige recurrent infection syndrome 4, autosomal recessive 10.9
12 hyper-ige recurrent infection syndrome 5, autosomal recessive 10.9
13 candidiasis 10.3
14 dermatitis, atopic 10.3
15 exanthem 10.3
16 histoplasmosis 10.2
17 gastroesophageal reflux 10.2
18 hernia, hiatus 10.2
19 esophagitis, eosinophilic, 1 10.2
20 streptococcus pneumonia 10.2
21 esophagitis 10.2
22 dysphagia 10.2
23 dermatomyositis 10.1
24 childhood type dermatomyositis 10.1
25 demyelinating disease 10.1
26 progressive multifocal leukoencephalopathy 10.1
27 lung abscess 10.1
28 oral candidiasis 10.1
29 peritonitis 10.1
30 otitis media 10.1
31 anemia, autoimmune hemolytic 10.1
32 atrophoderma vermiculata 10.1
33 immunodeficiency 67 10.1
34 autoimmune disease, multisystem, infantile-onset, 1 10.1
35 disease by infectious agent 10.1
36 aspiration pneumonia 10.1
37 skin atrophy 10.1
38 folliculitis 10.1
39 hemolytic anemia 10.1
40 acne 10.1
41 chickenpox 10.1
42 aphthous stomatitis 10.1
43 sutton disease 2 10.1
44 rare systemic disease 10.1
45 craniosynostosis 10.1
46 coronary artery aneurysm 10.1
47 diffuse large b-cell lymphoma 10.0
48 osteomyelitis 10.0
49 cryptococcosis 10.0
50 b-cell lymphoma 10.0

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 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized abnormality of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011354
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
4 atelectasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100750
5 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
6 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
7 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
8 increased circulating ige level 31 hallmark (90%) HP:0003212
9 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
10 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
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 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
16 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
17 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
18 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
19 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
20 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
21 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
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 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
27 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
28 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
29 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
30 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
31 skin vesicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0200037
32 vascular dilatation 31 occasional (7.5%) HP:0002617
33 frontal bossing 31 HP:0002007
34 high palate 31 HP:0000218
35 coarse facial features 31 HP:0000280
36 hypertelorism 31 HP:0000316
37 abnormality of the dentition 58 Frequent (79-30%)
38 abnormality of the face 58 Frequent (79-30%)
39 joint hypermobility 31 HP:0001382
40 erythema 31 HP:0010783
41 recurrent pneumonia 31 HP:0006532
42 abnormality of the hair 58 Frequent (79-30%)
43 wide nose 31 HP:0000445
44 dilatation 58 Occasional (29-5%)
45 recurrent infections 58 Very frequent (99-80%)
46 recurrent sinopulmonary infections 31 HP:0005425
47 persistence of primary teeth 31 HP:0006335
48 increased circulating total ige level 58 Very frequent (99-80%)
49 recurrent staphylococcus aureus infections 31 HP:0002726
50 eczematoid dermatitis 31 HP:0000976

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
vertebral body abnormalities

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

Laboratory Abnormalities:
eosinophilia
increased serum ige

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

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

Head And Neck Eyes:
hypertelorism

Skeletal:
recurrent fractures
joint hyperextensibility
decreased bone mineral density

Respiratory:
recurrent sinopulmonary infections

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 (Updated 20-May-2021)

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 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
2
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Hormones Phase 3
5 Hormone Antagonists Phase 3
6 Antiprotozoal Agents Phase 3
7 Antiparasitic Agents Phase 3
8 Antifungal Agents Phase 3
9 Anti-Infective Agents Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11
Ranitidine Approved, Withdrawn Phase 2 66357-59-3, 66357-35-5, 82530-72-1 3001055
12
Sodium citrate Approved, Investigational Phase 2 68-04-2
13
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15 Immunoglobulins Phase 2
16 Vaccines Phase 2
17 Agglutinins Phase 2
18 Antibodies Phase 2
19 Gastrointestinal Agents Phase 2
20 Ranitidine bismuth citrate Phase 2
21 Neurotransmitter Agents Phase 2
22 Citrate Phase 2
23 Antacids Phase 2
24 Anti-Ulcer Agents Phase 2
25 Histamine H2 Antagonists Phase 2
26
Bismuth Phase 2 7440-69-9 16682734 105143
27 Bismuth tripotassium dicitrate Phase 2
28 Histamine Antagonists Phase 2
29
Histamine Phosphate Phase 2 51-74-1 65513
30
Omalizumab Approved, Investigational Phase 1 242138-07-4
31 Respiratory System Agents Phase 1
32 Anti-Asthmatic Agents Phase 1
33 Immunoglobulins, Intravenous Phase 1
34 Anti-Allergic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 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
3 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 Terminated NCT02996448 Phase 2 NDV-3A
4 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
5 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
6 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
7 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
8 Cognitive Function in Leukocyte Disorders Completed NCT00005933
9 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150

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, Eye, Lung, Neutrophil, Bone Marrow, T Cells, Skin

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 111)
# Title Authors PMID Year
1
Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 6 57
23342295 2012
2
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 57 6
18591410 2008
3
STAT3 mutation in the original patient with Job's syndrome. 57 6
17942886 2007
4
STAT3 mutations in the hyper-IgE syndrome. 57 6
17881745 2007
5
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 57 6
17676033 2007
6
Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. 57 6
4161105 1966
7
The face of Job. 61 57
9709729 1998
8
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
9
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. 6
29330115 2018
10
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. 6
29868029 2018
11
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. 6
28579554 2017
12
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. 6
28315006 2017
13
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
. 6
28253502 2017
14
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 6
27799162 2016
15
A case of selective IgG subclass deficiency with STAT3 mutation. 6
27302695 2016
16
The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 6
26384563 2015
17
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 6
25359994 2015
18
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 6
25038750 2014
19
Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. 6
24627079 2014
20
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 6
24452316 2014
21
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. 57
24159173 2013
22
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. 6
23830147 2013
23
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. 6
23584561 2013
24
Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization. 6
23584591 2013
25
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 6
22751495 2012
26
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. 6
22581330 2012
27
Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation. 6
22030463 2012
28
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. 57
22118528 2011
29
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 6
21792878 2011
30
Clinical, immunological and genetic features in Taiwanese patients with the phenotype of hyper-immunoglobulin E recurrent infection syndromes (HIES). 6
21324546 2011
31
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 6
20816194 2010
32
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 6
20159255 2010
33
STAT3 Hyper IgE Syndrome 6
20301786 2010
34
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. 6
20048285 2010
35
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. 6
19577286 2009
36
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 6
18706697 2008
37
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
18602572 2008
38
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. 57
18591412 2008
39
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 57
18337720 2008
40
Genetic linkage of hyper-IgE syndrome to chromosome 4. 57
10441580 1999
41
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. 57
10053178 1999
42
Job's syndrome: a rare cause of recurrent lung abscess in childhood. 57
2241394 1990
43
Clinical and immunologic aspects of the hyperimmunoglobulin E syndrome. 57
3279022 1988
44
Potentiation of human immunoglobulin E synthesis by plasma immunoglobulin E binding factors from patients with the hyperimmunoglobulin E syndrome. 57
3485112 1986
45
Craniosynostosis in hyper-IgE-syndrome. 57
4076261 1985
46
Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. 57
4011897 1985
47
Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. 57
3871199 1985
48
The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature. 57
6348470 1983
49
Pyoderma eczema and folliculitis with defective leucocyte and lymphocyte function: a new familial immunodeficiency disease responsive to a histamine-1 antagonist. 57
6135027 1983
50
Levamisole in Job's syndrome. 57
7144828 1982

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 210)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT3 NM_139276.2(STAT3):c.1853G>A (p.Gly618Asp) SNV Pathogenic 430904 rs1555563871 GRCh37: 17:40475057-40475057
GRCh38: 17:42323039-42323039
2 STAT3 NM_139276.2(STAT3):c.454C>T (p.Arg152Trp) SNV Pathogenic 224846 rs869312890 GRCh37: 17:40491346-40491346
GRCh38: 17:42339328-42339328
3 STAT3 NM_139276.2(STAT3):c.1311C>A (p.His437Gln) SNV Pathogenic 664121 rs1598399795 GRCh37: 17:40478188-40478188
GRCh38: 17:42326170-42326170
4 STAT3 NM_139276.3(STAT3):c.1110-1_1112del Deletion Pathogenic 940951 GRCh37: 17:40481792-40481795
GRCh38: 17:42329774-42329777
5 STAT3 NM_003150.4(STAT3):c.1145G>T (p.Arg382Leu) SNV Pathogenic 18307 rs113994136 GRCh37: 17:40481660-40481660
GRCh38: 17:42329642-42329642
6 STAT3 NM_003150.4(STAT3):c.1166C>T (p.Thr389Ile) SNV Pathogenic 64689 rs397514766 GRCh37: 17:40481639-40481639
GRCh38: 17:42329621-42329621
7 STAT3 NM_003150.4(STAT3):c.1384_1386GTG[1] (p.Val463del) Microsatellite Pathogenic 18303 rs113994138 GRCh37: 17:40477056-40477058
GRCh38: 17:42325038-42325040
8 STAT3 NM_139276.2(STAT3):c.2117T>C (p.Leu706Pro) SNV Pathogenic 429592 rs1131691476 GRCh37: 17:40469227-40469227
GRCh38: 17:42317209-42317209
9 STAT3 NM_139276.2(STAT3):c.1979T>C (p.Met660Thr) SNV Pathogenic 265261 rs886039434 GRCh37: 17:40474422-40474422
GRCh38: 17:42322404-42322404
10 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met) SNV Pathogenic 18308 rs113994139 GRCh37: 17:40474492-40474492
GRCh38: 17:42322474-42322474
11 STAT3 NM_139276.2(STAT3):c.2144C>T (p.Pro715Leu) SNV Pathogenic 421171 rs1064794957 GRCh37: 17:40469200-40469200
GRCh38: 17:42317182-42317182
12 STAT3 NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln) SNV Pathogenic 18305 rs113994136 GRCh37: 17:40481660-40481660
GRCh38: 17:42329642-42329642
13 STAT3 NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) SNV Pathogenic 18304 rs113994135 GRCh37: 17:40481661-40481661
GRCh38: 17:42329643-42329643
14 STAT3 NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln) SNV Pathogenic 18306 rs113994137 GRCh37: 17:40481441-40481441
GRCh38: 17:42329423-42329423
15 STAT3 NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) SNV Pathogenic 18304 rs113994135 GRCh37: 17:40481661-40481661
GRCh38: 17:42329643-42329643
16 STAT3 NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln) SNV Pathogenic 18305 rs113994136 GRCh37: 17:40481660-40481660
GRCh38: 17:42329642-42329642
17 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met) SNV Pathogenic 18308 rs113994139 GRCh37: 17:40474492-40474492
GRCh38: 17:42322474-42322474
18 STAT3 NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) SNV Pathogenic 224848 rs869312892 GRCh37: 17:40468917-40468917
GRCh38: 17:42316899-42316899
19 STAT3 NM_139276.2(STAT3):c.986T>A (p.Met329Lys) SNV Likely pathogenic 476197 rs1555566820 GRCh37: 17:40485754-40485754
GRCh38: 17:42333736-42333736
20 STAT3 NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) SNV Likely pathogenic 36790 rs193922721 GRCh37: 17:40474431-40474431
GRCh38: 17:42322413-42322413
21 STAT3 NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) SNV Likely pathogenic 36783 rs193922716 GRCh37: 17:40485737-40485737
GRCh38: 17:42333719-42333719
22 STAT3 NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) SNV Likely pathogenic 36783 rs193922716 GRCh37: 17:40485737-40485737
GRCh38: 17:42333719-42333719
23 STAT3 NM_139276.2(STAT3):c.1859C>T (p.Thr620Ile) SNV Likely pathogenic 568201 rs1567708034 GRCh37: 17:40475051-40475051
GRCh38: 17:42323033-42323033
24 STAT3 NM_139276.2(STAT3):c.1772A>T (p.Lys591Met) SNV Likely pathogenic 36788 rs193922719 GRCh37: 17:40475138-40475138
GRCh38: 17:42323120-42323120
25 STAT3 NM_139276.2(STAT3):c.1780G>A (p.Glu594Lys) SNV Likely pathogenic 36789 rs193922720 GRCh37: 17:40475130-40475130
GRCh38: 17:42323112-42323112
26 STAT3 NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) SNV Likely pathogenic 36790 rs193922721 GRCh37: 17:40474431-40474431
GRCh38: 17:42322413-42322413
27 STAT3 NM_139276.2(STAT3):c.2134T>C (p.Cys712Arg) SNV Likely pathogenic 36791 rs193922722 GRCh37: 17:40469210-40469210
GRCh38: 17:42317192-42317192
28 STAT3 NM_003150.4(STAT3):c.1976T>A (p.Ile659Asn) SNV Likely pathogenic 495061 rs1555563717 GRCh37: 17:40474425-40474425
GRCh38: 17:42322407-42322407
29 STAT3 NM_003150.4(STAT3):c.2129T>G (p.Ile710Ser) SNV Likely pathogenic 803390 rs1598381121 GRCh37: 17:40469212-40469212
GRCh38: 17:42317194-42317194
30 STAT3 NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) SNV Likely pathogenic 36784 rs193922717 GRCh37: 17:40481466-40481466
GRCh38: 17:42329448-42329448
31 STAT3 NM_139276.3(STAT3):c.833G>A (p.Arg278His) SNV Likely pathogenic 850251 GRCh37: 17:40486032-40486032
GRCh38: 17:42334014-42334014
32 STAT3 NM_139276.2(STAT3):c.*1850C>T SNV Uncertain significance 323214 rs886052933 GRCh37: 17:40465913-40465913
GRCh38: 17:42313895-42313895
33 STAT3 NM_139276.2(STAT3):c.973C>T (p.Arg325Trp) SNV Uncertain significance 566291 rs1567718244 GRCh37: 17:40485767-40485767
GRCh38: 17:42333749-42333749
34 STAT3 NM_139276.2(STAT3):c.307C>T (p.Arg103Trp) SNV Uncertain significance 566510 rs1408283351 GRCh37: 17:40497642-40497642
GRCh38: 17:42345624-42345624
35 STAT3 NM_139276.2(STAT3):c.1636T>C (p.Trp546Arg) SNV Uncertain significance 570821 rs1567708724 GRCh37: 17:40475608-40475608
GRCh38: 17:42323590-42323590
36 STAT3 NM_139276.2(STAT3):c.*646T>C SNV Uncertain significance 323234 rs886052939 GRCh37: 17:40467117-40467117
GRCh38: 17:42315099-42315099
37 STAT3 NM_139276.2(STAT3):c.-162A>G SNV Uncertain significance 323251 rs886052945 GRCh37: 17:40540435-40540435
GRCh38: 17:42388417-42388417
38 STAT3 NM_139276.2(STAT3):c.*2002G>A SNV Uncertain significance 323211 rs531760487 GRCh37: 17:40465761-40465761
GRCh38: 17:42313743-42313743
39 STAT3 NM_139276.2(STAT3):c.*1673C>T SNV Uncertain significance 323217 rs886052935 GRCh37: 17:40466090-40466090
GRCh38: 17:42314072-42314072
40 STAT3 NM_139276.2(STAT3):c.*1497G>A SNV Uncertain significance 323220 rs190710939 GRCh37: 17:40466266-40466266
GRCh38: 17:42314248-42314248
41 STAT3 NM_139276.2(STAT3):c.*895A>G SNV Uncertain significance 323229 rs537640981 GRCh37: 17:40466868-40466868
GRCh38: 17:42314850-42314850
42 STAT3 NM_139276.2(STAT3):c.*1266G>A SNV Uncertain significance 323226 rs886052938 GRCh37: 17:40466497-40466497
GRCh38: 17:42314479-42314479
43 STAT3 NM_139276.2(STAT3):c.*1850C>G SNV Uncertain significance 323215 rs886052933 GRCh37: 17:40465913-40465913
GRCh38: 17:42313895-42313895
44 STAT3 NM_139276.2(STAT3):c.-55C>G SNV Uncertain significance 323249 rs886052944 GRCh37: 17:40540328-40540328
GRCh38: 17:42388310-42388310
45 STAT3 NM_139276.2(STAT3):c.-195G>C SNV Uncertain significance 323252 rs780393027 GRCh37: 17:40540468-40540468
GRCh38: 17:42388450-42388450
46 STAT3 NM_139276.2(STAT3):c.*1196T>C SNV Uncertain significance 323227 rs193126798 GRCh37: 17:40466567-40466567
GRCh38: 17:42314549-42314549
47 STAT3 NM_139276.2(STAT3):c.2216A>G (p.Asn739Ser) SNV Uncertain significance 323241 rs886052941 GRCh37: 17:40468848-40468848
GRCh38: 17:42316830-42316830
48 STAT3 NM_139276.2(STAT3):c.657T>C (p.Ser219=) SNV Uncertain significance 323247 rs886052943 GRCh37: 17:40489593-40489593
GRCh38: 17:42337575-42337575
49 STAT3 NM_139276.2(STAT3):c.*1415C>G SNV Uncertain significance 323221 rs886052936 GRCh37: 17:40466348-40466348
GRCh38: 17:42314330-42314330
50 STAT3 NM_139276.2(STAT3):c.-140C>T SNV Uncertain significance 323250 rs528219097 GRCh37: 17:40540413-40540413
GRCh38: 17:42388395-42388395

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

72 (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

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 STAT3 IL6ST
2
Show member pathways
12.36 STAT3 IL6ST
3
Show member pathways
12.34 STAT3 IL6ST
4 12.33 STAT3 IL6ST
5
Show member pathways
12.14 STAT3 IL6ST
6 12.11 STAT3 IL6ST
7
Show member pathways
11.98 STAT3 IL6ST
8
Show member pathways
11.91 STAT3 IL6ST
9
Show member pathways
11.89 STAT3 IL6ST
10 11.87 STAT3 IL6ST
11
Show member pathways
11.87 STAT3 IL6ST
12
Show member pathways
11.75 STAT3 IL6ST
13
Show member pathways
11.73 STAT3 IL6ST
14 11.67 STAT3 IL6ST
15 11.62 STAT3 IL6ST
16
Show member pathways
11.45 STAT3 IL6ST
17
Show member pathways
11.42 STAT3 IL6ST
18
Show member pathways
11.37 STAT3 IL6ST
19
Show member pathways
11.28 STAT3 IL6ST
20
Show member pathways
11.13 STAT3 IL6ST
21
Show member pathways
11.06 STAT3 IL6ST
22 10.9 STAT3 IL6ST
23 10.67 STAT3 IL6ST
24 10.35 STAT3 IL6ST
25 9.9 STAT3 IL6ST

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 viral process GO:0016032 9.46 STAT3 IL6ST
2 positive regulation of cell proliferation GO:0008284 9.43 STAT3 IL6ST
3 cytokine-mediated signaling pathway GO:0019221 9.4 STAT3 IL6ST
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.37 STAT3 IL6ST
5 response to cytokine GO:0034097 9.32 STAT3 IL6ST
6 positive regulation of Notch signaling pathway GO:0045747 9.26 STAT3 IL6ST
7 interleukin-6-mediated signaling pathway GO:0070102 9.16 STAT3 IL6ST
8 interleukin-35-mediated signaling pathway GO:0070757 8.96 STAT3 IL6ST
9 interleukin-27-mediated signaling pathway GO:0070106 8.62 STAT3 IL6ST

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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