Hyper-Ige Recurrent Infection Syndrome malady

Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases, Bone diseases categories

Aliases & Classifications for Hyper-Ige Recurrent Infection Syndrome

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46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Hyper-Ige Recurrent Infection Syndrome:

Name: Hyper-Ige Recurrent Infection Syndrome 46 9
Job Syndrome 8 42 21 48 61
Hyperimmunoglobulin E-Recurrent Infection Syndrome 42 21 48
Autosomal Dominant Hyper-Ige Syndrome 42 20 48
Buckley Syndrome 42 21 48
Stat3 Deficiency 19 42 48
Ad-Hies 19 42 48
Autosomal Dominant Hyperimmunoglobulin E Syndrome 42 48
Autosomal Dominant Hyper Ige Syndrome 19 42
Hyperimmunoglobulin E Syndrome Type 1 42 48
Hyperimmunoglobulin E Syndrome 8 22
Autosomal Dominant Hies 42 48
Hyper-Ige Syndrome 21 44
Job's Syndrome 8 21
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Dominant 42
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 61
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 61
Hyper Ig E Syndrome, Autosomal Dominant 42
Stat3-Deficient Hyper Ige Syndrome 19
Ad Hyperimmunoglobulin E Syndrome 42
Job Syndrome Autosomal Dominant 42
Hies Autosomal Dominant 42
Job-Buckley Syndrome 21
Job’s Syndrome 19
Jobs Syndrome 10
Hie Syndrome 21
Hies 21


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 147060
Disease Ontology8 DOID:3261
MeSH33 D007589
NCIt39 C3144
Orphanet48 2314
ICD10 via Orphanet26 D82.4
UMLS via Orphanet62 C2936739, C3489795
ICD1025 D82.4

Summaries for Hyper-Ige Recurrent Infection Syndrome

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NIH Rare Diseases:42 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. last updated: 8/25/2010

MalaCards based summary: Hyper-Ige Recurrent Infection Syndrome, also known as job syndrome, is related to hyper-ige recurrent infection syndrome, autosomal recessive and lung abscess, and has symptoms including eczema, skin rash and pruritus. An important gene associated with Hyper-Ige Recurrent Infection Syndrome is STAT3 (signal transducer and activator of transcription 3 (acute-phase response factor)). Affiliated tissues include skin, bone and lung.

Genetics Home Reference:21 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. Recurrent skin infections and an inflammatory skin disorder called eczema are also very common in Job syndrome. These skin problems cause rashes, blisters, collections of pus (abscesses), open sores, and scaling.

OMIM:46 Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema,... (147060) more...

GeneReviews summary for higes

Related Diseases for Hyper-Ige Recurrent Infection Syndrome

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Diseases in the Hyper-Ige Recurrent Infection Syndrome family:

Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

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

(show top 50)    (show all 314)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-ige recurrent infection syndrome, autosomal recessive10.7
2lung abscess10.4
3necrotizing fasciitis10.4
5coronary artery aneurysm10.3
6hyper ige syndrome10.3
8b-cell lymphomas10.3
9diffuse large b-cell lymphoma10.3
10t cell deficiency10.3
11his bundle tachycardia10.3
13hematopoietic stem cell transplantation10.3
14crohn's disease10.3
16right bundle branch block10.3
20chronic granulomatous disease10.2
21osteochondritis dissecans10.2
22molluscum contagiosum10.2
24neonatal diabetes mellitus10.2
25bullous pemphigoid10.2
26pseudotumor cerebri10.2
27atopic dermatitis10.2
36eosinophilic pustular folliculitis10.2
37gianotti crosti syndrome10.2
38saethre-chotzen syndrome10.2
39prolidase deficiency10.2
40hodgkin lymphoma10.2
41mantle cell lymphoma10.2
42progressive multifocal leukoencephalopathy10.2
43factor viii deficiency10.2
44acute disseminated encephalomyelitis10.2
45autosomal dominant disease10.2
47food allergy10.2
48intracranial aneurysm10.2

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

Diseases related to hyper-ige recurrent infection syndrome

Symptoms for Hyper-Ige Recurrent Infection Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 38)
  • anomalies of skin, subcutaneous tissue and mucosae
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • eczema
  • pruritus/itching
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • atelectasia/pulmonary collapse
  • repeat respiratory infections
  • anomalies of the immunitary system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal dominant inheritance
  • frontal bossing/prominent forehead
  • face/facial anomalies
  • deepset eyes/enophthalmos
  • broad nose/nasal bridge
  • gingivitis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of teeth and dentition
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • chronic/relapsing otitis
  • scoliosis
  • follicular/erythematous/edematous papules/milium
  • hair and scalp anomalies
  • dysplastic/thick/grooved fingernails
  • onyxis/paronyxis/ungual inflammation
  • cough
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • hyperextensible joints/articular hyperlaxity
  • eosinophils anomalies/hypereosinophilia
  • craniostenosis/craniosynostosis/sutural synostosis
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • arterial aneurism (excluding aorta)
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • lymphoma
  • autosomal recessive inheritance
  • fever/chilling

HPO human phenotypes related to Hyper-Ige Recurrent Infection Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 eczema hallmark (90%) HP:0000964
2 skin rash hallmark (90%) HP:0000988
3 pruritus hallmark (90%) HP:0000989
4 recurrent respiratory infections hallmark (90%) HP:0002205
5 atelectasis hallmark (90%) HP:0100750
6 skin ulcer hallmark (90%) HP:0200042
7 cleft palate typical (50%) HP:0000175
8 gingivitis typical (50%) HP:0000230
9 abnormality of the nose typical (50%) HP:0000366
10 otitis media typical (50%) HP:0000388
11 deeply set eye typical (50%) HP:0000490
12 delayed eruption of teeth typical (50%) HP:0000684
13 abnormality of the fingernails typical (50%) HP:0001231
14 joint hypermobility typical (50%) HP:0001382
15 paronychia typical (50%) HP:0001818
16 abnormality of eosinophils typical (50%) HP:0001879
17 frontal bossing typical (50%) HP:0002007
18 scoliosis typical (50%) HP:0002650
19 recurrent fractures typical (50%) HP:0002757
20 reduced bone mineral density typical (50%) HP:0004349
21 craniosynostosis occasional (7.5%) HP:0001363
22 aneurysm occasional (7.5%) HP:0002617
23 lymphoma occasional (7.5%) HP:0002665
24 osteomyelitis occasional (7.5%) HP:0002754
25 abnormality of temperature regulation occasional (7.5%) HP:0004370
26 abnormal blistering of the skin occasional (7.5%) HP:0008066
27 cellulitis occasional (7.5%) HP:0100658
28 autosomal dominant inheritance HP:0000006
29 high palate HP:0000218
30 coarse facial features HP:0000280
31 hypertelorism HP:0000316
32 wide nose HP:0000445
33 osteopenia HP:0000938
34 eczematoid dermatitis HP:0000976
35 craniosynostosis HP:0001363
36 joint hypermobility HP:0001382
37 eosinophilia HP:0001880
38 frontal bossing HP:0002007
39 scoliosis HP:0002650
40 recurrent staphylococcus aureus infections HP:0002726
41 recurrent fractures HP:0002757
42 recurrent fungal infections HP:0002841
43 increased ige level HP:0003212
44 infantile onset HP:0003593
45 recurrent sinopulmonary infections HP:0005425
46 persistence of primary teeth HP:0006335
47 prominent forehead HP:0011220

Drugs & Therapeutics for Hyper-Ige Recurrent Infection Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hyper-Ige Recurrent Infection Syndrome

Search NIH Clinical Center for Hyper-Ige Recurrent Infection Syndrome

Genetic Tests for Hyper-Ige Recurrent Infection Syndrome

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Genetic tests related to Hyper-Ige Recurrent Infection Syndrome:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hyper Ige Syndrome20 STAT3
2 Hyperimmunoglobulin E Syndrome22

Anatomical Context for Hyper-Ige Recurrent Infection Syndrome

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

Skin, Bone, Lung, Eye

Animal Models for Hyper-Ige Recurrent Infection Syndrome or affiliated genes

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Publications for Hyper-Ige Recurrent Infection Syndrome

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Articles related to Hyper-Ige Recurrent Infection Syndrome:

Coronary abnormalities in hyper-IgE recurrent infection syndrome: depiction at coronary MDCT angiography. (19933621)
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. (17098478)

Variations for Hyper-Ige Recurrent Infection Syndrome

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

63 (show all 14)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Hyper-Ige Recurrent Infection Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1STAT3NM_139276.2(STAT3): c.1387_1389delGTG (p.Val463del)deletionPathogenicrs113994138GRCh37Chr 17, 40477056: 40477058
2STAT3NM_139276.2(STAT3): c.1144C> T (p.Arg382Trp)single nucleotide variantPathogenicrs113994135GRCh37Chr 17, 40481661: 40481661
3STAT3NM_139276.2(STAT3): c.1145G> A (p.Arg382Gln)single nucleotide variantPathogenicrs113994136GRCh37Chr 17, 40481660: 40481660
4STAT3NM_139276.2(STAT3): c.1268G> A (p.Arg423Gln)single nucleotide variantPathogenicrs113994137GRCh37Chr 17, 40481441: 40481441
5STAT3STAT3, ARG383LEUsingle nucleotide variantPathogenic
6STAT3NM_139276.2(STAT3): c.1909G> A (p.Val637Met)single nucleotide variantPathogenicrs113994139GRCh37Chr 17, 40474492: 40474492
7STAT3NM_139276.2(STAT3): c.1003C> T (p.Arg335Trp)single nucleotide variantLikely pathogenicrs193922716GRCh37Chr 17, 40485737: 40485737
8STAT3NM_139276.2(STAT3): c.1243G> A (p.Glu415Lys)single nucleotide variantLikely pathogenicrs193922717GRCh37Chr 17, 40481466: 40481466
9STAT3NM_139276.2(STAT3): c.1772A> T (p.Lys591Met)single nucleotide variantLikely pathogenicrs193922719GRCh37Chr 17, 40475138: 40475138
10STAT3NM_139276.2(STAT3): c.1780G> A (p.Glu594Lys)single nucleotide variantLikely pathogenicrs193922720GRCh37Chr 17, 40475130: 40475130
11STAT3NM_139276.2(STAT3): c.1970A> G (p.Tyr657Cys)single nucleotide variantLikely pathogenicrs193922721GRCh37Chr 17, 40474431: 40474431
12STAT3NM_139276.2(STAT3): c.2134T> C (p.Cys712Arg)single nucleotide variantLikely pathogenicrs193922722GRCh37Chr 17, 40469210: 40469210
13STAT3NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile)single nucleotide variantPathogenicrs397514766GRCh37Chr 17, 40481639: 40481639

Expression for genes affiliated with Hyper-Ige Recurrent Infection Syndrome

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

Pathways for genes affiliated with Hyper-Ige Recurrent Infection Syndrome

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Compounds for genes affiliated with Hyper-Ige Recurrent Infection Syndrome

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GO Terms for genes affiliated with Hyper-Ige Recurrent Infection Syndrome

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Sources for Hyper-Ige Recurrent Infection Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet