HIES1
MCID: HYP828
MIFTS: 53

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
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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 73
Job Syndrome 57 42 58 75 73
Hyper-Ige Recurrent Infection Syndrome 57 12 5 38
Buckley Syndrome 42 58 73
Ad-Hies 19 42 58
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 19 5
Autosomal Dominant Hyper-Ige Syndrome 42 58
Hyperimmunoglobulin E Syndrome Type 1 58 73
Hies Autosomal Dominant 19 73
Autosomal Dominant Hies 42 58
Stat3 Deficiency 42 58
Hies1 57 73
Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome 42
Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 42
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 19
Hyper-Ige Syndrome, Autosomal Dominant 57
Autosomal Dominant Hyper Ige Syndrome 19
Hyper-Ige Syndrome Autosomal Dominant 73
Stat3-Deficient Hyper Ige Syndrome 42
Ad Hyperimmunoglobulin E Syndrome 19
Job Syndrome Autosomal Dominant 19
Autosomal Dominant Job Syndrome 42
Hies, Autosomal Dominant 57
Job-Buckley Syndrome 42
Job's Syndrome 42

Characteristics:


Inheritance:

Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant: Autosomal dominant 57
Autosomal Dominant Hyper-Ige Syndrome: Autosomal dominant 58

Prevelance:

Autosomal Dominant Hyper-Ige Syndrome: 1-9/1000000 (Europe) 1-9/100000 (Europe) 58

Age Of Onset:

Autosomal Dominant Hyper-Ige Syndrome: Infancy,Neonatal 58

Age Of Death:

Autosomal Dominant Hyper-Ige Syndrome: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy


Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


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

MedlinePlus Genetics: 42 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 1 and hyper ige syndrome. 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 skin, bone and heart, and related phenotypes are generalized abnormality of skin and recurrent respiratory infections

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 24-Oct-2022)

GARD: 19 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 genetic changes in the STAT3 gene. In other cases, the cause is unknown.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

Wikipedia: 75 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 4a, Autosomal Dominant family:

Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive Hyper-Ige Recurrent Infection Syndrome 4b, 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 151)
# Related Disease Score Top Affiliating Genes
1 hyper ige recurrent infection syndrome 1 31.8 STAT3 PGM3
2 hyper ige syndrome 30.9 STAT3 PGM3 DOP1A
3 immunodeficiency 23 29.5 PGM3 DOP1A
4 chronic mucocutaneous candidiasis 29.4 STAT3 PGM3
5 hyper ige recurrent infection syndrome 4 11.6
6 hyper ige recurrent infection syndrome 2 11.5
7 hyper ige recurrent infection syndrome 3 11.5
8 dock8 immunodeficiency syndrome 11.5
9 familial candidiasis 11.3
10 stat3 hyper ige syndrome 11.2
11 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.1
12 hyper-ige recurrent infection syndrome 3, autosomal recessive 10.9
13 hyper-ige recurrent infection syndrome 4b, autosomal recessive 10.9
14 hyper-ige recurrent infection syndrome 5, autosomal recessive 10.9
15 hyper-ige recurrent infection syndrome 4a, autosomal dominant 10.9
16 candidiasis 10.3
17 dermatitis, atopic 10.3
18 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
19 lung abscess 10.2
20 histoplasmosis 10.2
21 gastroesophageal reflux 10.2
22 hernia, hiatus 10.2
23 streptococcus pneumonia 10.2
24 dermatomyositis 10.1
25 childhood type dermatomyositis 10.1
26 demyelinating disease 10.1
27 progressive multifocal leukoencephalopathy 10.1
28 bacteremia 2 10.1
29 oral candidiasis 10.1
30 peritonitis 10.1
31 otitis media 10.1
32 down syndrome 10.1
33 anemia, autoimmune hemolytic 10.1
34 atrophoderma vermiculata 10.1
35 immunodeficiency 67 10.1
36 esophagitis, eosinophilic, 1 10.1
37 autoimmune disease, multisystem, infantile-onset, 1 10.1
38 aspiration pneumonia 10.1
39 henoch-schoenlein purpura 10.1
40 esophagitis 10.1
41 skin atrophy 10.1
42 eosinophilic gastroenteritis 10.1
43 folliculitis 10.1
44 hemolytic anemia 10.1
45 acne 10.1
46 lung disease 10.1
47 herpes zoster 10.1
48 chickenpox 10.1
49 aphthous stomatitis 10.1
50 rare systemic disease 10.1

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 30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized abnormality of skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011354
2 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
3 skin ulcer 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200042
4 atelectasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100750
5 skin rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000988
6 eczema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000964
7 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000989
8 increased circulating ige level 30 Very rare (1%) HP:0003212
9 scoliosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002650
10 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
11 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
12 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
13 prominent forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0011220
14 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
15 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
16 gingivitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000230
17 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
18 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
19 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
20 cough 58 30 Frequent (33%) Frequent (79-30%)
HP:0012735
21 papule 58 30 Frequent (33%) Frequent (79-30%)
HP:0200034
22 eosinophilia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001880
23 dystrophic fingernails 58 30 Frequent (33%) Frequent (79-30%)
HP:0008391
24 paronychia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001818
25 abnormal hair morphology 30 Frequent (33%) HP:0001595
26 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
27 lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002665
28 cellulitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100658
29 osteomyelitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002754
30 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001363
31 skin vesicle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200037
32 vascular dilatation 30 Occasional (7.5%) HP:0002617
33 high palate 30 Very rare (1%) HP:0000218
34 joint hypermobility 30 Very rare (1%) HP:0001382
35 recurrent pneumonia 30 Very rare (1%) HP:0006532
36 wide nose 30 Very rare (1%) HP:0000445
37 persistence of primary teeth 30 Very rare (1%) HP:0006335
38 eczematoid dermatitis 30 Very rare (1%) HP:0000976
39 chronic mucocutaneous candidiasis 30 Very rare (1%) HP:0002728
40 cutaneous abscess 30 Very rare (1%) HP:0031292
41 frontal bossing 30 HP:0002007
42 coarse facial features 30 HP:0000280
43 hypertelorism 30 HP:0000316
44 abnormality of the dentition 58 Frequent (79-30%)
45 abnormality of the face 58 Frequent (79-30%)
46 erythema 30 HP:0010783
47 abnormality of the hair 58 Frequent (79-30%)
48 dilatation 58 Occasional (29-5%)
49 recurrent infections 58 Very frequent (99-80%)
50 recurrent sinopulmonary infections 30 HP:0005425

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.13 DOP1A PGM3 STAT3
2 reproductive system MP:0005389 8.8 DOP1A PGM3 STAT3

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 46)
# 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
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
4 Cytochrome P-450 Enzyme Inhibitors Phase 3
5 Antifungal Agents Phase 3
6 Anti-Infective Agents Phase 3
7 Hormones Phase 3
8 Hormone Antagonists Phase 3
9 Antiprotozoal Agents Phase 3
10 Antiparasitic Agents Phase 3
11
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
12
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Lenograstim Approved, Investigational Phase 2 135968-09-1
15
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
16
Ranitidine Approved, Withdrawn Phase 2 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
17
Histamine Approved, Investigational Phase 2 51-45-6 774
18
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
19 Antineoplastic Agents, Alkylating Phase 2
20 Anesthetics Phase 2
21 Antirheumatic Agents Phase 2
22 Antimetabolites Phase 2
23 Immunosuppressive Agents Phase 2
24 Alkylating Agents Phase 2
25 Immunologic Factors Phase 2
26 Vaccines Phase 2
27 Antibodies Phase 2
28 Agglutinins Phase 2
29 Immunoglobulins Phase 2
30 Gastrointestinal Agents Phase 2
31 Citrate Phase 2
32 Bismuth tripotassium dicitrate Phase 2
33
Bismuth Phase 2 7440-69-9 105143
34 Anti-Ulcer Agents Phase 2
35
Ranitidine bismuth citrate Phase 2
36
Histamine phosphate Phase 2 51-74-1 134614
37 Histamine H2 Antagonists Phase 2
38 Histamine Antagonists Phase 2
39 Neurotransmitter Agents Phase 2
40 Antacids Phase 2
41
Omalizumab Approved, Investigational Phase 1 242138-07-4
42 Respiratory System Agents Phase 1
43 Anti-Asthmatic Agents Phase 1
44 Anti-Allergic Agents Phase 1
45 Immunoglobulins, Intravenous Phase 1
46 Pharmaceutical Solutions

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency Recruiting NCT01176006 Phase 2 Fludarabine(Fludara, Berlex Laboratories);Cyclophosphamide(CTX, Cytoxan);Busulfan (Busulfex)
3 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
4 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
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 Cognitive Function in Leukocyte Disorders Completed NCT00005933
10 Multicenter, Open, Prospective, Randomized Trial of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old Recruiting NCT04897113
11 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

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

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

MalaCards : Skin, Bone, Heart, Brain, Bone Marrow, Lung, Eye
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

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 464)
# Title Authors PMID Year
1
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. 62 57 5
18591412 2008
2
STAT3 mutation in the original patient with Job's syndrome. 62 57 5
17942886 2007
3
STAT3 mutations in the hyper-IgE syndrome. 62 57 5
17881745 2007
4
Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. 62 57 5
4161105 1966
5
Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease. 57 5
23342295 2012
6
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 57 5
18591410 2008
7
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 57 5
17676033 2007
8
Malignancy in STAT3 Deficient Hyper IgE Syndrome. 62 57
35059947 2022
9
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. 62 57
34137790 2021
10
Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity. 62 5
31737384 2019
11
Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome. 62 5
27799162 2016
12
Autosomal Dominant Hyper IgE Syndrome--Treatment Strategies and Clinical Outcomes. 62 5
26743515 2016
13
Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology. 62 5
24627079 2014
14
Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 62 5
24452316 2014
15
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. 62 5
23830147 2013
16
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome. 62 5
23584561 2013
17
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 62 5
22751495 2012
18
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway. 62 5
22581330 2012
19
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. 62 57
22118528 2011
20
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 62 5
21792878 2011
21
Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES). 62 5
21288777 2011
22
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 62 5
20816194 2010
23
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. 62 5
19577286 2009
24
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 62 5
18978467 2008
25
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. 62 5
18602572 2008
26
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. 62 57
18337720 2008
27
The face of Job. 62 57
9709729 1998
28
Job's syndrome: a rare cause of recurrent lung abscess in childhood. 62 57
2241394 1990
29
Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. 62 57
4011897 1985
30
Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. 62 57
3871199 1985
31
The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature. 62 57
6348470 1983
32
Levamisole in Job's syndrome. 62 57
7144828 1982
33
Levamisole is inferior to placebo in the hyperimmunoglobulin E recurrent-infection (Job's) syndrome. 62 57
6806658 1982
34
Mononuclear cells from patients with the hyperimmunoglobulin E-recurrent infection syndrome produce an inhibitor of leukocyte chemotaxis. 62 57
7068851 1982
35
Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses. 62 57
4137601 1974
36
Job's syndrome--a variant of chronic granulomatous disease. Report of a case. 62 57
5815897 1969
37
Leucocytes in Job's syndrome. 62 57
4180157 1969
38
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. 5
30940614 2019
39
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 5
29077208 2018
40
Visualization and quantification of dynamic STAT3 homodimerization in living cells using homoFluoppi. 5
29402895 2018
41
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 5
27884935 2017
42
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. 5
27226025 2016
43
A case of selective IgG subclass deficiency with STAT3 mutation. 5
27302695 2016
44
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. 5
27980540 2016
45
The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters. 5
26384563 2015
46
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 5
25359994 2015
47
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation. 5
24628715 2014
48
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. 57
24159173 2013
49
Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization. 5
23584591 2013
50
Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S). 5
21107604 2011

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

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

5 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT3 NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile) SNV Pathogenic
64689 rs397514766 GRCh37: 17:40481639-40481639
GRCh38: 17:42329621-42329621
2 PGM3 NM_015599.3(PGM3):c.1016AAG[1] (p.Glu340del) MICROSAT Pathogenic
156471 rs267608259 GRCh37: 6:83888400-83888402
GRCh38: 6:83178681-83178683
3 DOP1A, PGM3 NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) SNV Pathogenic
133321 rs267608261 GRCh37: 6:83880059-83880059
GRCh38: 6:83170340-83170340
4 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) SNV Pathogenic
133320 rs267608260 GRCh37: 6:83898474-83898474
GRCh38: 6:83188755-83188755
5 STAT3 NM_139276.3(STAT3):c.1145G>T (p.Arg382Leu) SNV Pathogenic
Pathogenic
Pathogenic
18307 rs113994136 GRCh37: 17:40481660-40481660
GRCh38: 17:42329642-42329642
6 STAT3 NM_139276.3(STAT3):c.1853G>A (p.Gly618Asp) SNV Pathogenic
430904 rs1555563871 GRCh37: 17:40475057-40475057
GRCh38: 17:42323039-42323039
7 STAT3 NM_139276.3(STAT3):c.1311C>A (p.His437Gln) SNV Pathogenic
664121 rs1598399795 GRCh37: 17:40478188-40478188
GRCh38: 17:42326170-42326170
8 STAT3 NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala) SNV Pathogenic
1429145 GRCh37: 17:40474486-40474486
GRCh38: 17:42322468-42322468
9 STAT3 NM_139276.3(STAT3):c.1110-1_1112del DEL Pathogenic
Uncertain Significance
940951 rs2081913335 GRCh37: 17:40481792-40481795
GRCh38: 17:42329774-42329777
10 STAT3 NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) SNV Pathogenic
224848 rs869312892 GRCh37: 17:40468917-40468917
GRCh38: 17:42316899-42316899
11 STAT3 NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) SNV Pathogenic
224846 rs869312890 GRCh37: 17:40491346-40491346
GRCh38: 17:42339328-42339328
12 STAT3 NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) SNV Pathogenic
Uncertain Significance
Uncertain Significance
633433 rs1567713850 GRCh37: 17:40481475-40481475
GRCh38: 17:42329457-42329457
13 STAT3 NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) SNV Pathogenic
Pathogenic/Likely Pathogenic
36790 rs193922721 GRCh37: 17:40474431-40474431
GRCh38: 17:42322413-42322413
14 STAT3 NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) SNV Pathogenic
Likely Pathogenic
265261 rs886039434 GRCh37: 17:40474422-40474422
GRCh38: 17:42322404-42322404
15 STAT3 NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro) SNV Pathogenic
429592 rs1131691476 GRCh37: 17:40469227-40469227
GRCh38: 17:42317209-42317209
16 STAT3 NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser) SNV Pathogenic
1068485 GRCh37: 17:40475051-40475051
GRCh38: 17:42323033-42323033
17 STAT3 NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile) SNV Pathogenic
1005984 rs2081287195 GRCh37: 17:40469203-40469203
GRCh38: 17:42317185-42317185
18 STAT3 NM_139276.3(STAT3):c.1228C>T (p.His410Tyr) SNV Pathogenic
1039785 rs2081903545 GRCh37: 17:40481577-40481577
GRCh38: 17:42329559-42329559
19 STAT3 NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) SNV Pathogenic
Likely Pathogenic
495061 rs1555563717 GRCh37: 17:40474425-40474425
GRCh38: 17:42322407-42322407
20 STAT3 NM_139276.3(STAT3):c.1110-2A>G SNV Pathogenic
1398166 GRCh37: 17:40481796-40481796
GRCh38: 17:42329778-42329778
21 STAT3 NM_139276.3(STAT3):c.1910T>C (p.Val637Ala) SNV Pathogenic
1705748 GRCh37: 17:40474491-40474491
GRCh38: 17:42322473-42322473
22 STAT3 NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) MICROSAT Pathogenic
Pathogenic
18303 rs113994138 GRCh37: 17:40477056-40477058
GRCh38: 17:42325038-42325040
23 STAT3 NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) SNV Pathogenic
Pathogenic
18304 rs113994135 GRCh37: 17:40481661-40481661
GRCh38: 17:42329643-42329643
24 STAT3 NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) SNV Pathogenic
18306 rs113994137 GRCh37: 17:40481441-40481441
GRCh38: 17:42329423-42329423
25 STAT3 NM_139276.3(STAT3):c.1909G>A (p.Val637Met) SNV Pathogenic
Pathogenic
Pathogenic
18308 rs113994139 GRCh37: 17:40474492-40474492
GRCh38: 17:42322474-42322474
26 STAT3 NM_139276.3(STAT3):c.2116C>A (p.Leu706Met) SNV Pathogenic
1429110 GRCh37: 17:40469228-40469228
GRCh38: 17:42317210-42317210
27 STAT3 NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) SNV Pathogenic
Pathogenic
421171 rs1064794957 GRCh37: 17:40469200-40469200
GRCh38: 17:42317182-42317182
28 STAT3 NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) SNV Likely Pathogenic
Likely Pathogenic
36783 rs193922716 GRCh37: 17:40485737-40485737
GRCh38: 17:42333719-42333719
29 STAT3 NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) SNV Likely Pathogenic
1012305 GRCh37: 17:40475327-40475327
GRCh38: 17:42323309-42323309
30 STAT3 NM_139276.3(STAT3):c.986T>A (p.Met329Lys) SNV Likely Pathogenic
476197 rs1555566820 GRCh37: 17:40485754-40485754
GRCh38: 17:42333736-42333736
31 STAT3 NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) SNV Likely Pathogenic
803390 rs1598381121 GRCh37: 17:40469212-40469212
GRCh38: 17:42317194-42317194
32 STAT3 NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) SNV Likely Pathogenic
Uncertain Significance
568201 rs1567708034 GRCh37: 17:40475051-40475051
GRCh38: 17:42323033-42323033
33 STAT3 NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) SNV Likely Pathogenic
36784 rs193922717 GRCh37: 17:40481466-40481466
GRCh38: 17:42329448-42329448
34 STAT3 NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) SNV Likely Pathogenic
36788 rs193922719 GRCh37: 17:40475138-40475138
GRCh38: 17:42323120-42323120
35 STAT3 NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) SNV Likely Pathogenic
36789 rs193922720 GRCh37: 17:40475130-40475130
GRCh38: 17:42323112-42323112
36 STAT3 NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) SNV Likely Pathogenic
36791 rs193922722 GRCh37: 17:40469210-40469210
GRCh38: 17:42317192-42317192
37 STAT3 NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) SNV Likely Pathogenic
Uncertain Significance
224844 rs869312888 GRCh37: 17:40481448-40481448
GRCh38: 17:42329430-42329430
38 STAT3 NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) SNV Likely Pathogenic
1470407 GRCh37: 17:40486004-40486004
GRCh38: 17:42333986-42333986
39 STAT3 NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) SNV Likely Pathogenic
1067042 GRCh37: 17:40481623-40481623
GRCh38: 17:42329605-42329605
40 STAT3 NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) SNV Likely Pathogenic
1067430 GRCh37: 17:40474477-40474477
GRCh38: 17:42322459-42322459
41 STAT3 NM_139276.3(STAT3):c.833G>A (p.Arg278His) SNV Likely Pathogenic
850251 rs2082128828 GRCh37: 17:40486032-40486032
GRCh38: 17:42334014-42334014
42 STAT3 NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) SNV Likely Pathogenic
1339186 GRCh37: 17:40469221-40469221
GRCh38: 17:42317203-42317203
43 STAT3 NM_139276.2(STAT3):c.-195G>C SNV Uncertain Significance
323252 rs780393027 GRCh37: 17:40540468-40540468
GRCh38: 17:42388450-42388450
44 STAT3 NM_139276.2(STAT3):c.-211G>T SNV Uncertain Significance
889011 rs902564848 GRCh37: 17:40540484-40540484
GRCh38: 17:42388466-42388466
45 STAT3 NM_139276.2(STAT3):c.-226C>T SNV Uncertain Significance
889012 rs1567768628 GRCh37: 17:40540499-40540499
GRCh38: 17:42388481-42388481
46 STAT3 NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) SNV Uncertain Significance
Likely Benign
514074 rs151033214 GRCh37: 17:40468836-40468836
GRCh38: 17:42316818-42316818
47 STAT3 NM_139276.3(STAT3):c.2050G>C (p.Gly684Arg) SNV Uncertain Significance
852410 rs780466766 GRCh37: 17:40474351-40474351
GRCh38: 17:42322333-42322333
48 STAT3 NM_139276.3(STAT3):c.626C>T (p.Ala209Val) SNV Uncertain Significance
853523 rs1356637796 GRCh37: 17:40489800-40489800
GRCh38: 17:42337782-42337782
49 STAT3 NM_139276.3(STAT3):c.785G>A (p.Arg262Gln) SNV Uncertain Significance
853869 rs1451984094 GRCh37: 17:40489465-40489465
GRCh38: 17:42337447-42337447
50 STAT3 NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) SNV Uncertain Significance
372521 rs769031989 GRCh37: 17:40474482-40474482
GRCh38: 17:42322464-42322464

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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49 NCIt
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52 NINDS
53 Novoseek
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56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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