Job's Syndrome malady

NIH Rare Diseases: 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.³⁰

MalaCards: Job's Syndrome, also known as autosomal dominant hyper ige syndrome, is related to tyrosine kinase 2 deficiency and hyper-ige syndrome. An important gene associated with Job's Syndrome is IGES (immunoglobulin E concentration, serum), and among its related pathways are IL-22 Pathway and Immune response_Oncostatin M signaling via JAK-Stat in human cells. The compounds gamma globulin and unicap have been mentioned in the context of this disorder. Affiliated tissues include skin and t cells, and related mouse phenotypes are homeostasis/metabolism and immune system.

GeneReviews summary for higes

Aliases & Descriptions:

job's syndrome 6 43 autosomal dominant hyper ige syndrome 15 30 16 ad-hies 15 30 16 stat3-deficient hyper ige syndrome 15 16 stat3 deficiency 15 16 hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant 30 hyper-immunoglobulin e syndrome, autosomal dominant 43 hyperimmunoglobulin e syndrome (disorder) 6 hyper ig e syndrome, autosomal dominant 30

ad hyperimmunoglobulin e syndrome 30 job syndrome autosomal dominant 30 hyperimmunoglobulin e syndrome 6 job's syndrome (disorder) 6 hies autosomal dominant 30 job’s syndrome 15 job syndrome 16 malnutrition 43

Diseases related to job's syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 464)

id	Related Disease	Score	Top Affiliating Genes
1	tyrosine kinase 2 deficiency	30.1	IGES, TYK2
2	hyper-ige syndrome	29.9	IGES, IGHE, DOCK8, STAT3
3	autosomal recessive hyper ige syndrome	29.3	TYK2, DOCK8
4	peritonitis	28.4	STAT3, IFNG, IGHE, CD79A
5	non-hodgkin lymphoma	26.9	CD79A, IGHE, IFNG, STAT3
6	protein-losing enteropathy	26.0	CD79A, IGES
7	immunoglobulin alpha deficiency	25.9	CD79A, IGHE
8	short bowel syndrome	25.5	CD79A, IGES, IGHE
9	hepatitis	25.3	IGES, IGHE, IFNG, CARD9, STAT3, CD79A
10	asthma	25.1	IGES, IGHE, CD79A, STAT3, IFNG
11	fibrosis	24.9	CD79A, IGHE, IFNG, STAT3, IGES
12	chronic obstructive pulmonary disease	24.9	STAT3, IFNG, CD79A, IGES, IGHE
13	immunodeficiency	24.9	IRAK4, CD79A, STAT3, TYK2, DOCK8, IGHE
14	pulmonary disease	24.8	CD79A, IFNG, IGES, IGHE, STAT3
15	pancreatitis	24.8	STAT3, IGES, IFNG, IGHE, CD79A, IRAK4
16	crohn's disease	24.8	IFNG, IGES, STAT3
17	hyperthyroidism	24.7	IGHE, CD79A, IFNG, IGES
18	cholera	23.9	IFNG, IGHE, STAT3, CD79A
19	hepatitis c	23.1	TYK2, STAT3, IFNG, IGHE, CD79A
20	hepatitis b	23.0	CARD9, IFNG, IGHE, IGES, CD79A, STAT3
21	squamous cell carcinoma	22.3	IRAK4, IFNG, CD79A, IGHE, DOCK8, STAT3
22	rheumatoid arthritis	22.2	TYK2, CD79A, IFNG, IGHE, IRAK4, STAT3
23	arthritis	22.2	CD79A, IFNG, IGES, TYK2, IRAK4, STAT3
24	allergic bronchopulmonary aspergillosis	13.3	IGHE, IGES
25	intrinsic asthma	13.3	IGHE, IGES
26	eosinophilic gastroenteritis	13.3	IGHE, IGES
27	allergic rhinitis	13.3	IGHE, IGES
28	kimura disease	13.3	IGHE, IGES
29	chronic sphenoidal sinusitis	13.2	IGES, IGHE
30	food allergy	13.2	IGHE, IGES
31	vernal keratoconjunctivitis	13.2	IGHE, IGES
32	neurogenic bladder	13.2	IGES, IGHE
33	coronary artery aneurysm	13.2	IGES, IGHE
34	exercise induced anaphylaxis	13.1	CD79A, IGHE
35	immunodeficiency with hyper igm	13.1	CD79A, IGHE
36	immunodeficiency with hyper igm type 1	13.1	CD79A, IGHE
37	b cell deficiency	13.1	IGHE, CD79A
38	egg allergy	13.1	IFNG, IGHE
39	miliary tuberculosis	13.1	IFNG, IGHE
40	cd40 ligand deficiency	13.1	IGHE, CD79A
41	urinary schistosomiasis	13.1	IGHE, IFNG
42	hypersensitivity reaction type iv disease	13.0	IFNG, IGHE
43	extrinsic allergic alveolitis	13.0	CD79A, IGHE
44	allergic conjunctivitis	13.0	IGHE, IFNG
45	pulmonary eosinophilia	12.9	IFNG, IGHE
46	omenn syndrome	12.9	IGHE, IFNG
47	natural killer cell leukemia	12.9	CD79A, IFNG
48	hypergammaglobulinemia	12.9	IGHE, CD79A
49	membranoproliferative glomerulonephritis type 2	12.9	CD79A, IGES
50	panniculitis	12.9	IGHE, IFNG

Approved drugs:

Drug clinical trials:

Genetic tests related to job's syndrome:

id	Genetic test	Affiliating Genes
1	Job's Syndrome clinical/research	STAT3

MalaCards organs/tissues related to job's syndrome:

²²

MGI Mouse Phenotypes related to job's syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism phenotype	MP:0005376	7.0	TYK2, CARD9, IFNG, IGHE, IRAK4, CD79A
2	immune system phenotype	MP:0005387	6.7	CLEC6A, STAT3, TYK2, DOCK8, IFNG, IRAK4
3	hematopoietic system phenotype	MP:0005397	6.1	STAT3, TYK2, DOCK8, IFNG, IGHE, IRAK4

Articles related to job's syndrome:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Hyper IgE (Job's) syndrome: a primary immune deficiency with oral manifestations. (19036057)	Freeman A.F.... Holland S.M.	2009	IGHE
2	Hyperimmunoglobulin E syndrome (Job's syndrome). (19284090)	TA8maA9 M.M.... Rednic S.	2008	IGHE
3	Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome. (18410869)	Green M.S.... Horrow J.C.	2008	IGES
4	Fournier gangrene associated with hyper IgE syndrome (Job syndrome). (18380833)	Hori J.... Hori M.	2008	IGHE
5	Hyperimmunoglobulin E syndrome (job syndrome) discovered in a patient following corrective spine surgery: case report and review of the literature. (16778678)	Tan W.M.... Tan S.B.	2006	IGES
6	Peripheral T-cell lymphoma and Job's syndrome: a rare association. (16645241)	Onal I.K.... Gullu I.	2006	IGES
7	The development of pulmonary adenocarcinoma in a patient with Job's syndrome, a rare immunodeficiency condition. (15143986)	Oztop I.... Alakavuklar M.	2004	IGHE
8	Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. (15621772)	Leonard G.D.... Wilson W.H.	2004	IGHE
9	28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome? (14551710)	Plikat K.... SchAPlmerich J.	2003	IGHE
10	Meconium thorax: A case of Bochdalek hernia and cecal perforation in a neonate with Job's syndrome. (11912536)	Butterworth S.A.... Webber E.M.	2002	IGHE
11	Regulation of immunoglobulin production in hyper-IgE (Job's) syndrome. (9949327)	Garraud O.... Nutman T.B.	1999	IGHE
12	Job syndrome (hyper-IgE) and hypo-IgA. A rare association of immunodeficiencies (8725083)	Mazzone A.... Ricevuti G.	1996	CD79A
13	A case of Job's syndrome (8675115)	Kitai E.... Wolach B.	1996	IGHE
14	Use of recombinant human interferon gamma to enhance neutrophil chemotactic responses in Job syndrome of hyperimmunoglobulinemia E and recurrent infections. (1900333)	Jeppson J.D.... Hill H.R.	1991	IFNG

Genes related to job's syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	IGES	immunoglobulin E concentration, serum	11.0	Publications
2	CARD9	caspase recruitment domain family, member 9	11.0
3	CLEC6A	C-type lectin domain family 6, member A	11.0
4	IGHE	immunoglobulin heavy constant epsilon	11.0	Publications
5	IRAK4	interleukin-1 receptor-associated kinase 4	11.0
6	TYK2	tyrosine kinase 2	11.0
7	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
8	DOCK8	dedicator of cytokinesis 8	11.0
9	STAT3	signal transducer and activator of transcription 3 (acute-phase response factor)	11.0
10	IFNG	interferon, gamma	11.0	Publications

Pathways related to job's syndrome according to GeneDecks:

(show all 19)

id	Pathway	Score	Top Affiliating Genes
1	IL-22 Pathway36	9.4	TYK2, STAT3
2	Immune response_Oncostatin M signaling via JAK-Stat in human cells41	9.4	STAT3, TYK2
3	Immune response Oncostatin M signaling via JAK-Stat in human cells10	9.4	STAT3, TYK2
4	Tuberculosis20	9.3	IRAK4, IFNG, CARD9
5	Influenza A20	9.2	TYK2, IFNG, IRAK4
6	Immune response_IL-10 signaling pathway41	9.2	STAT3, TYK2
7	Immune response_IL-23 signaling pathway41	9.2	TYK2, STAT3
8	Immune response IL-10 signaling pathway10	9.1	STAT3, TYK2
9	Immune response IL-12 signaling pathway10	9.0	IFNG, TYK2, STAT3
10	Jak/Stat Pathway3	9.0	IFNG, TYK2, STAT3
11	Immune response_IL-12 signaling pathway41	9.0	STAT3, TYK2, IFNG
12	Th1 Differentiation37	9.0	STAT3, TYK2, IFNG
13	Immune response IL-12-induced IFN-gamma production10	8.9	STAT3, TYK2, IFNG
14	Immune response_IL-12-induced IFN-gamma production41	8.9	IFNG, TYK2, STAT3
15	Immune response IL-23 signaling pathway10	8.9	STAT3, TYK2
16	Immune System38	8.9	TYK2, CARD9, IFNG, CD79A
17	Jak-STAT signaling pathway20	8.8	IFNG, TYK2, STAT3
18	Toxoplasmosis20	8.6	IRAK4, IFNG, TYK2, STAT3
19	Measles20	8.6	STAT3, TYK2, IFNG, IRAK4

Compounds related to job's syndrome according to GeneDecks:

(show all 20)

id	Compound	Score	Top Affiliating Genes
1	gamma globulin32	10.2	CD79A
2	unicap32	9.9	CD79A, IGHE
3	sodium cromoglycate32	9.8	CD79A, IGHE
4	praziquantel32 9 9	11.8	CD79A, IGHE
5	penicillin32	9.7	CD79A, IGHE
6	bucillamine32	9.7	CD79A, IFNG
7	gliadin32	9.7	IGHE, CD79A
8	enterotoxin32	9.7	CD79A, IGES
9	tuberculin32	9.6	IFNG, CD79A
10	methacholine32 9 9	11.6	CD79A, IGES, IGHE
11	isoniazid32 34 9 9	12.5	CD79A, IFNG
12	silicone32	9.5	IGHE, CD79A
13	adalimumab32 9 9	11.4	CD79A, IFNG
14	prednisolone32 9 9	11.3	IFNG, IGHE, CD79A
15	allergens32	9.1	CD79A, IGES, IGHE, IFNG
16	histamine32 18	10.0	IFNG, IGHE, IGES, CD79A
17	ifn-alpha32	9.0	STAT3, TYK2, IFNG
18	parthenolide32	8.8	IFNG, STAT3
19	cyclosporin a32 42	9.3	STAT3, IFNG, IGHE, IGES, CD79A
20	retinoic acid32 42 18	10.0	CD79A, IGHE, IFNG, TYK2, STAT3

Biological processes related to job's syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of tumor necrosis factor production	GO:032760	9.6	IFNG, CARD9
2	cytokine-mediated signaling pathway	GO:019221	8.0	IRAK4, IFNG, TYK2, STAT3