MCID: HYP756
MIFTS: 56

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

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

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

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

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant hyper-ige syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

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


GeneReviews:

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

Classifications:



Summaries for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

Genetics Home Reference : 25 Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. These infections often result in the formation of air-filled cysts (pneumatoceles) in the lungs. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.

MalaCards based summary : Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant, also known as job syndrome, is related to hyper ige syndrome and hyper-ige recurrent infection syndrome, autosomal recessive. An important gene associated with Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Influenza A. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are osteopenia and scoliosis

OMIM : 57 Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999). (147060)

UniProtKB/Swiss-Prot : 75 Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant: A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eczema, recurrent Staphylococcal infections, increased serum IgE, eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.

NIH Rare Diseases : 53 Autosomal dominant hyper IgE syndrome (AD-HIES), formerly known as Job syndrome, affects several body systems including the immune system. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood.  Signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. The eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. Some cases of AD-HIES are caused by mutations in the STAT3 gene. In other cases, the cause is unknown.

Wikipedia : 76 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job\'s... more...

GeneReviews: NBK25507

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

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

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

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

Respiratory:
recurrent sinopulmonary infections

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

Respiratory Lung:
pneumatocele formation

Skin Nails Hair Skin:
eczema, severe
recurrent skin abscesses

Skeletal Spine:
scoliosis
vertebral body abnormalities

Skeletal:
recurrent fractures
joint hyperextensibility
decreased bone mineral density

Laboratory Abnormalities:
eosinophilia
increased serum ige

Head And Neck Mouth:
high-arched palate

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

Skeletal Skull:
craniosynostosis (rare)


Clinical features from OMIM:

147060

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 IRAK4 STAT3 STK4 TYK2 DOCK8
2 hematopoietic system MP:0005397 9.43 DOCK8 IL17A IRAK4 STAT3 STK4 TYK2
3 immune system MP:0005387 9.1 DOCK8 IL17A IRAK4 STAT3 STK4 TYK2

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Antifungal Agents Phase 3,Phase 2
4 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
5 Antiparasitic Agents Phase 3,Phase 2
6 Antiprotozoal Agents Phase 3,Phase 2
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Steroid Synthesis Inhibitors Phase 3
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
13
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
14
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
16 Antibodies Phase 2,Phase 1
17 Immunoglobulins Phase 2,Phase 1
18 Anti-Bacterial Agents Phase 2,Not Applicable
19 Autoantibodies Phase 2
20 Liposomal amphotericin B Phase 2
21 Agglutinins Phase 2
22 Vaccines Phase 2
23 Antacids Phase 2
24 Anti-Ulcer Agents Phase 2
25
Bismuth Phase 2 7440-69-9 16682734 105143
26 Bismuth tripotassium dicitrate Phase 2
27 Gastrointestinal Agents Phase 2
28 Histamine Antagonists Phase 2
29 Histamine H2 Antagonists Phase 2
30
Histamine Phosphate Phase 2 51-74-1 65513
31 Neurotransmitter Agents Phase 2
32 Ranitidine bismuth citrate Phase 2
33 Citrate Nutraceutical Phase 2
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35 Anti-Allergic Agents Phase 1
36 Anti-Asthmatic Agents Phase 1
37 Respiratory System Agents Phase 1
38 Coagulase Not Applicable
39 Yellow Dock Nutraceutical

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
3 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Active, not recruiting NCT02996448 Phase 2 NDV-3A
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
10 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
11 Study of Mycobacterial Infections Recruiting NCT00018044
12 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
13 Human Immunity Against Staphylococcus Aureus Skin Infection Recruiting NCT02262819 Not Applicable
14 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
15 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
16 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
17 Genetic Analysis of Immune Disorders Enrolling by invitation NCT00001467

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

Cochrane evidence based reviews: job syndrome

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

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

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome 29 STAT3

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

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

41
Skin, Bone, Lung, Eye, Bone Marrow, Neutrophil

Publications for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

# Title Authors Year
1
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. ( 20093388 )
2010
2
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). ( 18380833 )
2008
3
Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. ( 18410869 )
2008
4
Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature. ( 16778678 )
2006
5
[Job syndrome (hyper-IgE) and hypo-IgA. A rare association of immunodeficiencies]. ( 8725083 )
1996
6
Use of recombinant human interferon gamma to enhance neutrophil chemotactic responses in Job syndrome of hyperimmunoglobulinemia E and recurrent infections. ( 1900333 )
1991

Variations for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 STAT3 p.Arg382Leu VAR_037365 rs113994136
2 STAT3 p.Arg382Gln VAR_037366 rs113994136
3 STAT3 p.Arg382Trp VAR_037367 rs113994135
4 STAT3 p.Phe384Leu VAR_037368
5 STAT3 p.Phe384Ser VAR_037369
6 STAT3 p.Thr389Ile VAR_037370 rs397514766
7 STAT3 p.Arg423Gln VAR_037371 rs113994137
8 STAT3 p.His437Tyr VAR_037372
9 STAT3 p.Ser611Asn VAR_037375
10 STAT3 p.Phe621Val VAR_037376
11 STAT3 p.Thr622Ile VAR_037377
12 STAT3 p.Val637Leu VAR_037378
13 STAT3 p.Val637Met VAR_037379 rs113994139
14 STAT3 p.Tyr657Cys VAR_037381 rs193922721

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

6
(show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del) deletion Pathogenic rs113994138 GRCh37 Chromosome 17, 40477056: 40477058
2 STAT3 NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del) deletion Pathogenic rs113994138 GRCh38 Chromosome 17, 42325038: 42325040
3 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh37 Chromosome 17, 40481661: 40481661
4 STAT3 NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp) single nucleotide variant Pathogenic rs113994135 GRCh38 Chromosome 17, 42329643: 42329643
5 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh37 Chromosome 17, 40481660: 40481660
6 STAT3 NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs113994136 GRCh38 Chromosome 17, 42329642: 42329642
7 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh37 Chromosome 17, 40481441: 40481441
8 STAT3 NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln) single nucleotide variant Pathogenic rs113994137 GRCh38 Chromosome 17, 42329423: 42329423
9 STAT3 STAT3, ARG383LEU single nucleotide variant Pathogenic
10 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
11 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
12 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh38 Chromosome 17, 42317192: 42317192
13 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh37 Chromosome 17, 40485737: 40485737
14 STAT3 NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp) single nucleotide variant Likely pathogenic rs193922716 GRCh38 Chromosome 17, 42333719: 42333719
15 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh37 Chromosome 17, 40481466: 40481466
16 STAT3 NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922717 GRCh38 Chromosome 17, 42329448: 42329448
17 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh37 Chromosome 17, 40475138: 40475138
18 STAT3 NM_139276.2(STAT3): c.1772A> T (p.Lys591Met) single nucleotide variant Likely pathogenic rs193922719 GRCh38 Chromosome 17, 42323120: 42323120
19 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh37 Chromosome 17, 40475130: 40475130
20 STAT3 NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys) single nucleotide variant Likely pathogenic rs193922720 GRCh38 Chromosome 17, 42323112: 42323112
21 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh37 Chromosome 17, 40474431: 40474431
22 STAT3 NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys) single nucleotide variant Likely pathogenic rs193922721 GRCh38 Chromosome 17, 42322413: 42322413
23 STAT3 NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg) single nucleotide variant Likely pathogenic rs193922722 GRCh37 Chromosome 17, 40469210: 40469210
24 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh37 Chromosome 17, 40481639: 40481639
25 STAT3 NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile) single nucleotide variant Pathogenic rs397514766 GRCh38 Chromosome 17, 42329621: 42329621
26 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh37 Chromosome 17, 40468917: 40468917
27 STAT3 NM_139276.2(STAT3): c.2147C> T (p.Thr716Met) single nucleotide variant Pathogenic/Likely pathogenic rs869312892 GRCh38 Chromosome 17, 42316899: 42316899
28 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs869312890 GRCh37 Chromosome 17, 40491346: 40491346
29 STAT3 NM_139276.2(STAT3): c.454C> T (p.Arg152Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs869312890 GRCh38 Chromosome 17, 42339328: 42339328
30 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh38 Chromosome 17, 42323038: 42323038
31 STAT3 NM_139276.2(STAT3): c.1854C> T (p.Gly618=) single nucleotide variant Benign/Likely benign rs117691970 GRCh37 Chromosome 17, 40475056: 40475056
32 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 40475057: 40475057
33 STAT3 NM_139276.2(STAT3): c.1853G> A (p.Gly618Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 42323039: 42323039
34 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 40485754: 40485754
35 STAT3 NM_139276.2(STAT3): c.986T> A (p.Met329Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 42333736: 42333736
36 STAT3 NM_003150.3(STAT3): c.1976T> A (p.Ile659Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 40474425: 40474425
37 STAT3 NM_003150.3(STAT3): c.1976T> A (p.Ile659Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 42322407: 42322407
38 STAT3 NM_139276.2(STAT3): c.1329C> T (p.Thr443=) single nucleotide variant Benign/Likely benign rs147955721 GRCh37 Chromosome 17, 40478170: 40478170
39 STAT3 NM_139276.2(STAT3): c.1329C> T (p.Thr443=) single nucleotide variant Benign/Likely benign rs147955721 GRCh38 Chromosome 17, 42326152: 42326152
40 STAT3 NM_139276.2(STAT3): c.1492A> G (p.Ile498Val) single nucleotide variant Likely benign rs146620441 GRCh37 Chromosome 17, 40476837: 40476837
41 STAT3 NM_139276.2(STAT3): c.1492A> G (p.Ile498Val) single nucleotide variant Likely benign rs146620441 GRCh38 Chromosome 17, 42324819: 42324819
42 STAT3 NM_139276.2(STAT3): c.1888+9G> A single nucleotide variant Likely benign GRCh38 Chromosome 17, 42322995: 42322995
43 STAT3 NM_139276.2(STAT3): c.1888+9G> A single nucleotide variant Likely benign GRCh37 Chromosome 17, 40475013: 40475013
44 STAT3 NM_139276.2(STAT3): c.1328C> T (p.Thr443Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 40478171: 40478171
45 STAT3 NM_139276.2(STAT3): c.1328C> T (p.Thr443Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 42326153: 42326153
46 STAT3 NM_139276.2(STAT3): c.552C> T (p.Asp184=) single nucleotide variant Likely benign rs202126764 GRCh37 Chromosome 17, 40489874: 40489874
47 STAT3 NM_139276.2(STAT3): c.552C> T (p.Asp184=) single nucleotide variant Likely benign rs202126764 GRCh38 Chromosome 17, 42337856: 42337856
48 STAT3 NM_139276.2(STAT3): c.498G> C (p.Glu166Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 42338783: 42338783
49 STAT3 NM_139276.2(STAT3): c.498G> C (p.Glu166Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 40490801: 40490801

Expression for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

Pathways for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 IL17A IRAK4 STAT3 TYK2
2
Show member pathways
12.45 IRAK4 STAT3 TYK2
3
Show member pathways
12.23 IL17A STAT3 TYK2
4
Show member pathways
12.23 IL17A STAT3 TYK2
5
Show member pathways
12 IL17A STAT3 TYK2
6
Show member pathways
11.85 STAT3 TYK2
7
Show member pathways
11.71 IL17A STAT3 TYK2
8
Show member pathways
11.66 STAT3 TYK2
9
Show member pathways
11.6 IRAK4 STAT3 TYK2
10
Show member pathways
11.57 IL17A STAT3
11
Show member pathways
11.53 STAT3 TYK2
12 11.44 IL17A IRAK4 STAT3 TYK2
13 11.4 IRAK4 STAT3
14 11.3 STAT3 TYK2
15 11.25 STAT3 TYK2
16 11.23 STAT3 TYK2
17 11.19 IL17A STAT3 TYK2
18 11.15 STAT3 TYK2
19 11.1 STAT3 TYK2
20
Show member pathways
11.07 STAT3 TYK2
21 10.98 STAT3 TYK2
22
Show member pathways
10.83 STAT3 TYK2
23 10.6 STAT3 TYK2

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

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.56 IRAK4 STAT3 STK4 TYK2
2 protein phosphorylation GO:0006468 9.54 IRAK4 STK4 TYK2
3 intracellular signal transduction GO:0035556 9.5 IRAK4 STK4 TYK2
4 interleukin-27-mediated signaling pathway GO:0070106 9.16 STAT3 TYK2
5 interleukin-23-mediated signaling pathway GO:0038155 8.96 STAT3 TYK2
6 cytokine-mediated signaling pathway GO:0019221 8.92 IL17A IRAK4 STAT3 TYK2

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.8 IRAK4 STK4 TYK2

Sources for Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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