MCID: JBS001
MIFTS: 47

Job's Syndrome malady

Immune diseases category

Summaries for Job's Syndrome

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48OMIM, 34MalaCards
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MalaCards: Job's Syndrome, also known as hyperimmunoglobulin e syndrome, is related to bullous pemphigoid and atopic dermatitis. An important gene associated with Job's Syndrome is CD79A (CD79a molecule, immunoglobulin-associated alpha), and among its related pathways are B Cell Receptor Signaling Pathway and Antigen Activates B Cell Receptor Leading to Generation of Second Messengers. The compounds unicap and sodium cromoglycate have been mentioned in the context of this disorder. Affiliated tissues include colon, lung and eye, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Description from OMIM:48 147060

Aliases & Classifications for Job's Syndrome

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Sources:
9Disease Ontology, 23GTR, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 48OMIM, 26ICD10
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Related Diseases for Job's Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Job's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1bullous pemphigoid30.3IGHE, CD79A
2atopic dermatitis30.3IGES, IGHE, IFNG
3dermatitis30.2IGES, IGHE, IFNG, CD79A
4autosomal dominant hyper ige syndrome30.1IFNG, STAT3, IGHE, IGES
5hyper ige syndrome10.4
6necrotizing fasciitis10.3
7fasciitis10.3
8molluscum contagiosum10.2
9nocardiosis10.2
10neonatal diabetes mellitus10.2
11pseudotumor cerebri10.2
12chronic granulomatous disease10.2
13osteochondritis dissecans10.2
14pleuropneumonia10.2
15calcinosis10.2
16dermatomyositis10.2
17diabetes mellitus10.2
18diarrhea10.2
19endocarditis10.2
20histoplasmosis10.2
21autosomal recessive hyper ige syndrome10.2
22gianotti crosti syndrome10.2
23short stature10.2
24hyper-ige recurrent infection syndrome, autosomal recessive10.2
25tyrosine kinase 2 deficiency10.2
26strongyloidiasis10.1IGHE
27intrinsic asthma10.1IGHE
28eosinophilic gastroenteritis10.1IGHE
29eczema herpeticum10.1IGHE
30malaria10.1IFNG
31thyroiditis10.1CD79A
32allergic bronchopulmonary aspergillosis10.0IGHE, IGES
33kimura disease10.0IGES, IGHE
34asthma10.0IGHE, IGES
35food allergy10.0IGES, IGHE
36vernal keratoconjunctivitis10.0IGES, IGHE
37hypereosinophilic syndrome10.0IGES, IGHE
38pneumonia10.0CD79A, IGES
39respiratory failure10.0IGHE, IGES
40immunoglobulin g deficiency10.0CD79A, IGHE
41pulmonary tuberculosis10.0IFNG, IGES
42immunoglobulin alpha deficiency10.0IGHE, CD79A
43immunodeficiency with hyper igm type 110.0CD79A, IGHE
44aspergillosis10.0IFNG, CD79A
45candidiasis10.0CD79A, IFNG
46nephrotic syndrome10.0IGES, CD79A
47tetanus10.0CD79A, IFNG
48fournier gangrene10.0
49graves' disease10.0IFNG, IGES
50allergic rhinitis10.0IGES, IGHE, IFNG

Graphical network of the top 20 diseases related to Job's Syndrome:



Diseases related to job's syndrome

Symptoms for Job's Syndrome

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48OMIM
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Clinical features from OMIM:

147060

Drugs & Therapeutics for Job's Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Job's Syndrome

Drug clinical trials:

Search ClinicalTrials for Job's Syndrome

Search NIH Clinical Center for Job's Syndrome

Search CenterWatch for Job's Syndrome

Genetic Tests for Job's Syndrome

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Sources:
23GTR
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Genetic tests related to Job's Syndrome:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin E Syndrome23

Anatomical Context for Job's Syndrome

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34MalaCards
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MalaCards organs/tissues related to Job's Syndrome:

34
Colon, Lung, Eye, T cells

Animal Models for Job's Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Job's Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9CD79A, IFNG, STAT3
2MP:00053978.3CD79A, IFNG, STAT3, IGHE
3MP:00053878.1IGHE, STAT3, IFNG, CD79A

Publications for Job's Syndrome

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Sources:
53PubMed
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Articles related to Job's Syndrome:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Free light chain assay: doing a "good job" in Job's syndrome. (23101694)
2013
2
Safety of major abdominal surgical procedures in patients with hyperimmunoglobulinemia E (Job's syndrome): a changing paradigm? (23188219)
2013
3
Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job's) syndrome. (23055595)
2012
4
Acupuncture for symptom management in patients with hyper-IgE (Job's) syndrome. (21208131)
2011
5
Anesthesia in a patient with Job's syndrome (hyper IgE). Case report. (21334510)
2011
6
Th17 cells, Job's syndrome and HIV: opportunities for bacterial and fungal infections. (20543597)
2010
7
Recurrent giant chalazia in hyperimmunoglobulin E (Job's) syndrome. (18528638)
2009
8
Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations. (19036057)
2009
9
Ophthalmic complications including retinal detachment in hyperimmunoglobulinemia E (Job's) syndrome: Case report and review of literature. (19700878)
2009
10
Recurrent hemoptysis with Penicillium marneffei and Stenotrophomonas maltophilia in Job's syndrome. (19707602)
2009
11
Methicillin-resistant Staphylococcus aureus (MRSA) mitral valve acute bacterial endocarditis (ABE) in a patient with Job's syndrome (hyperimmunoglobulin E syndrome) successfully treated with linezolid and high-dose daptomycin. (18206530)
2008
12
Hyperimmunoglobulin E syndrome (Job's syndrome). (19284090)
2008
13
The development of pulmonary adenocarcinoma in a patient with Job's syndrome, a rare immunodeficiency condition. (15143986)
2004
14
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. (15621772)
2004
15
Disseminated pulmonary candidiasis complicating hyperimmunoglobulin E (Job's) syndrome. (14712133)
2004
16
Job's syndrome--a case report. (14761145)
2003
17
Job's syndrome. A case report. (12700555)
2003
18
28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. (14551710)
2003
19
Generalized lymphadenopathy caused by Trichosporon asahii in a patient with Job's syndrome. (11862981)
2002
20
Meconium thorax: A case of Bochdalek hernia and cecal perforation in a neonate with Job's syndrome. (11912536)
2002
21
Clinical pathology case: hyperimmunoglobulin E syndrome (Job's syndrome). (11486352)
2001
22
Eye involvement in hyperimmunoglobulinemia E (Job's) syndrome. (11587182)
2001
23
Molluscum contagiosum and Job's syndrome. (11832646)
2001
24
Moderate-dose intravenous immunoglobulin treatment of Job's syndrome. Case report. (11084845)
2000
25
Job's syndrome. (11191445)
2000
26
Regulation of immunoglobulin production in hyper-IgE (Job's) syndrome. (9949327)
1999
27
Oral zinc in Job's syndrome. (20921729)
1998
28
Pneumatocele complicated by fungal lung abscess in Job's syndrome. Successful lobectomy with the aid of videothoracoscopy. (9264169)
1997
29
Case of the season. Job's syndrome with superimposed lymphoma. (8896101)
1996
30
Job's syndrome associated with HIV infection improved with immune globulin therapy. (8902088)
1996
31
A case of Job's syndrome]. (8675115)
1996
32
Colon perforation in a patient with hyperimmunoglobulin E (Job's) syndrome. (8786494)
1995
33
Fungal pulmonary abscess in an adult secondary to hyperimmunoglobulin E (Job's) syndrome. (7887732)
1995
34
An adult patient with hyperimmunoglobulemia E (Job's) syndrome, end-stage renal disease and repeated episodes of peritonitis. (8026117)
1994
35
Staphylococcal botryomycosis and hyperimmunoglobulin E (Job's) syndrome in an infant. (8425949)
1993
36
Job's syndrome: an unusual response to a common drug. (1616142)
1992
37
Pneumatocele complicating hyperimmunoglobulin E syndrome (Job's Syndrome). (1449312)
1992
38
Recurrent colonic histoplasmosis after standard therapy with amphotericin B in a patient with Job's syndrome. (1986542)
1991
39
Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E-recurrent infection (Job's) syndrome. (3338649)
1988
40
Neonatal Job's syndrome featuring a vesicular eruption. (3412996)
1988
41
Evolution of the hyperimmunoglobulin E and recurrent infection (HIE, JOB's) syndrome in a young girl. (3680819)
1987
42
Elevated urinary histamine in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome: association with eczematoid dermatitis and not with infection. (3819231)
1987
43
Ileocecal histoplasmosis mimicking Crohn's disease in a patient with Job's syndrome. (3949095)
1986
44
Immunoglobulins in the hyperimmunoglobulin E and recurrent infection (Job's) syndrome. Deficiency of anti-Staphylococcus aureus immunoglobulin A. (3871199)
1985
45
Esophageal cryptococcosis in a patient with the hyperimmunoglobulin E-recurrent infection (Job's) syndrome. (6373479)
1984
46
The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature. (6348470)
1983
47
Levamisole is inferior to placebo in the hyperimmunoglobulin E recurrent-infection (Job's) syndrome. (6806658)
1982
48
Atopic dermatitis and impaired neutrophil chemotaxis in Job's syndrome. (869552)
1977
49
Job's syndrome and chronic granulomatous disease. (5410629)
1970
50
Job's syndrome--a variant of chronic granulomatous disease. Report of a case. (5815897)
1969

Variations for Job's Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Job's Syndrome:

1
id Gene Name 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
5STAT3NM_139276.2(STAT3): c.1909G> A (p.Val637Met)single nucleotide variantPathogenicrs113994139GRCh37Chr 17, 40474492: 40474492
6STAT3NM_139276.2(STAT3): c.1166C> T (p.Thr389Ile)single nucleotide variantPathogenicrs397514766GRCh37Chr 17, 40481639: 40481639

Expression for genes affiliated with Job's Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Job's Syndrome

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Pathways for genes affiliated with Job's Syndrome

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 61Thomson Reuters, 31KEGG, 5Cell Signaling Technology, 55R&D Systems
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Pathways related to Job's Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5STAT3, CD79A
2
Show member pathways
9.5CD79A, IGHE
3
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
9.5CD79A, IGHE
4
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.4CD79A, IFNG
5
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.3IFNG, STAT3
69.3STAT3, IFNG
79.3IFNG, STAT3
8
Show member pathways
Type III interferon signaling39
9.3IFNG, STAT3
9
Show member pathways
9.3IFNG, STAT3
10
Show member pathways
9.3STAT3, IFNG
11
Show member pathways
Immune response IL 12 induced IFN gamma production61
9.3STAT3, IFNG
12
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway61
9.3STAT3, IFNG
139.3STAT3, IFNG
149.3IFNG, STAT3
15
Show member pathways
IL27-mediated signaling events39
9.3IFNG, STAT3
169.3IFNG, STAT3
17
Show member pathways
IL-2 Signaling pathway39
9.3IFNG, STAT3
18
Show member pathways
9.3STAT3, IFNG
19
Show member pathways
IFN-gamma pathway39
9.3IFNG, STAT3
20
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.0CD79A, STAT3, IGHE
21
Show member pathways
8.9CD79A, IFNG, STAT3

Compounds for genes affiliated with Job's Syndrome

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Job's Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 68)
idCompoundScoreTop Affiliating Genes
1unicap469.9CD79A, IGHE
2sodium cromoglycate469.9IGHE, CD79A
3praziquantel46 1210.9IGHE, CD79A
4penicillin469.9CD79A, IGHE
5gliadin469.9CD79A, IGHE
6silicone469.9IGHE, CD79A
7bucillamine469.8CD79A, IFNG
8salbutamol46 52 30 25 1213.8CD79A, IGHE
9gamma globulin469.8IFNG, CD79A
10tuberculin469.8CD79A, IFNG
11adalimumab46 52 1211.8CD79A, IFNG
12isoniazid46 52 1211.8IFNG, CD79A
13okt3469.8CD79A, IFNG
14con a469.8CD79A, IFNG
15pertussis469.7IGHE, STAT3
16parthenolide46 310.7STAT3, IFNG
17budesonide46 52 1211.7IGHE, IFNG
18fluticasone propionate46 52 62 1212.7IFNG, IGHE
19mycophenolate mofetil46 52 1211.7CD79A, IFNG
20anti-fungal469.6CD79A, IFNG
21polyinosinic-polycytidylic acid469.6IFNG, STAT3
22l-nmma469.6IGHE, IFNG
23enterotoxin469.6IGES, CD79A
24tarc469.6IGHE, IFNG
25infliximab46 52 1211.5IGHE, IFNG
26rituximab46 52 1211.5CD79A, STAT3
27ribavirin46 52 1211.5IFNG, STAT3
28melphalan46 52 1211.5CD79A, IFNG
29ifn-alpha469.4STAT3, IFNG
30neopterin469.4IFNG, CD79A
31n acetylcysteine469.4CD79A, STAT3, IGHE
32ivig469.3IGHE, IFNG, CD79A
33prednisolone46 30 1211.3CD79A, IFNG, IGHE
34indomethacin46 30 62 1212.3IGHE, IFNG, CD79A
35heparin46 30 25 1212.3CD79A, STAT3, IGHE
3615-deoxy-delta-12,14-prostaglandin j2469.2IFNG, STAT3
37pge2469.2STAT3, IFNG, CD79A
38actinomycin d469.2IFNG, STAT3, IGHE
39methacholine46 52 1211.1CD79A, IGHE, IGES
40acetylcholine46 52 30 25 1213.1CD79A, IGHE, IGES
41cycloheximide469.0IGHE, STAT3, IFNG
42lactate469.0CD79A, IGHE, IGES
43dexamethasone46 52 30 1211.8IGHE, STAT3, IFNG, CD79A
44vegf468.8IGHE, STAT3, IFNG, CD79A
45arginine468.8CD79A, IFNG, STAT3, IGHE
46retinoic acid46 259.8CD79A, IFNG, STAT3, IGHE
47testosterone46 62 25 1211.7CD79A, STAT3, IGHE
48allergens468.5CD79A, IFNG, IGHE, IGES
49histamine46 30 2510.5IGES, IGHE, IFNG, CD79A
50cyclosporin a46 30 6210.0IGES, IGHE, STAT3, IFNG, CD79A

GO Terms for genes affiliated with Job's Syndrome

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17Gene Ontology
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Biological processes related to Job's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular component movementGO:0069289.3IFNG, STAT3

Products for genes affiliated with Job's Syndrome

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Sources for Job's Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet