Hyperimmunoglobulin Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperimmunoglobulin Syndrome

MalaCards integrated aliases for Hyperimmunoglobulin Syndrome:

Name: Hyperimmunoglobulin Syndrome ¹² ¹⁵ ⁷³

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2959

NCIt ⁵⁰ C27579

UMLS ⁷³ C1334069

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Summaries for Hyperimmunoglobulin Syndrome

MalaCards based summary : Hyperimmunoglobulin Syndrome is related to immunodeficiency with hyper-igm, type 4 and immunodeficiency with hyper-igm, type 2. An important gene associated with Hyperimmunoglobulin Syndrome is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are NF-kappaB Signaling and Epstein-Barr virus infection. Related phenotypes are cellular and hematopoietic system

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Related Diseases for Hyperimmunoglobulin Syndrome

Diseases in the Hyperimmunoglobulin Syndrome family:

Hyperimmunoglobulin G1 Syndrome

Diseases related to Hyperimmunoglobulin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency with hyper-igm, type 4	30.3	AICDA CD40 CD40LG UNG
2	immunodeficiency with hyper-igm, type 2	29.2	AICDA CD40 CD40LG CD79A UNG
3	immunodeficiency with hyper-igm, type 5	10.9
4	light fixation seizure syndrome	10.7	CD40 CD40LG
5	exanthema subitum	10.5	CD40 CD40LG
6	waldenstrom macroglobulinemia	10.5	CD40 CD40LG
7	immunodeficiency 17	10.5	CD40LG DOCK8
8	mixed lacrimal gland cancer	10.4	STAT3 TYK2
9	selective igg deficiency disease	10.4	CD40LG CD79A
10	c1q nephropathy	10.4	CD40LG CD79A
11	meningovascular neurosyphilis	10.4	CD40LG CD79A
12	alpha chain disease	10.4	CD40LG CD79A
13	brill-zinsser disease	10.4	CD40LG CD79A
14	exudative glomerulonephritis	10.4	CD40LG CD79A
15	cork-handlers' disease	10.4	CD40LG CD79A
16	salpingo-oophoritis	10.4	CD40LG CD79A
17	early yaws	10.4	CD40LG CD79A
18	ventilation pneumonitis	10.4	CD40LG CD79A
19	chronic interstitial cystitis	10.4	CD40LG CD79A
20	axillary adenitis	10.4	CD40LG CD79A
21	cryofibrinogenemia	10.4	CD40LG CD79A
22	trichostrongyloidiasis	10.4	CD40LG CD79A
23	subacute bacterial endocarditis	10.4	CD40LG CD79A
24	heterophyiasis	10.4	CD40LG CD79A
25	immunoglobulin g deficiency	10.4	CD40LG CD79A
26	orbital granuloma	10.4	CD40LG CD79A
27	transient hypogammaglobulinemia of infancy	10.4	CD40LG CD79A
28	hyperglobulinemic purpura	10.4	CD40LG CD79A
29	suppurative lymphadenitis	10.4	DOCK8 STAT3
30	gastroduodenitis	10.4	CD40LG CD79A
31	bacterial conjunctivitis	10.4	CD40LG CD79A
32	heavy chain disease	10.4	CD40LG CD79A
33	ophthalmia neonatorum	10.4	CD40LG CD79A
34	immunoglobulin a deficiency 1	10.4	CD40LG CD79A
35	parotid disease	10.4	CD40LG CD79A
36	cerebral arteritis	10.4	CD40LG CD79A
37	selective immunoglobulin deficiency disease	10.4	CD40LG CD79A
38	geniculate herpes zoster	10.4	CD40LG CD79A
39	erythema elevatum diutinum	10.4	CD40LG CD79A
40	sporotrichosis	10.4	CD40LG CD79A
41	fallopian tube disease	10.4	CD40LG CD79A
42	congenital syphilis	10.4	CD40LG CD79A
43	polyclonal hypergammaglobulinemia	10.4	CD40LG CD79A
44	monoclonal paraproteinemia	10.4	CD40LG CD79A
45	salpingitis	10.4	CD40LG CD79A
46	ocular toxoplasmosis	10.4	CD40LG CD79A
47	dysgammaglobulinemia	10.4	CD40LG CD79A
48	congenital hypogammaglobulinemia	10.4	CD40LG CD79A
49	acute maxillary sinusitis	10.4	CD40LG CD79A
50	chronic polyneuropathy	10.4	CD40LG CD79A

Graphical network of the top 20 diseases related to Hyperimmunoglobulin Syndrome:

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Symptoms & Phenotypes for Hyperimmunoglobulin Syndrome

MGI Mouse Phenotypes related to Hyperimmunoglobulin Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.8	TYK2 UNG AICDA CD40LG CD79A DOCK8
2	hematopoietic system	MP:0005397	9.76	UNG AICDA CD40 CD40LG CD79A DOCK8
3	immune system	MP:0005387	9.56	UNG AICDA CD40 CD40LG CD79A DOCK8
4	normal	MP:0002873	9.02	UNG AICDA CD40 CD79A STAT3

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Drugs & Therapeutics for Hyperimmunoglobulin Syndrome

Search Clinical Trials , NIH Clinical Center for Hyperimmunoglobulin Syndrome

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Genetic Tests for Hyperimmunoglobulin Syndrome

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Anatomical Context for Hyperimmunoglobulin Syndrome

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Publications for Hyperimmunoglobulin Syndrome

Articles related to Hyperimmunoglobulin Syndrome:

#	Title	Authors	Year
1	Hyperimmunoglobulin syndrome due to CD40 deficiency: possibly the first case from India. ( 25511220 )	Mishra A....Madkaikar M.	2015

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Genes for Hyperimmunoglobulin Syndrome

Genes related to Hyperimmunoglobulin Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	17.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	CD40LG	CD40 Ligand	Protein Coding	17.63	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CD40	CD40 Molecule	Protein Coding	17.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	17.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	16.99	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	CD79A	CD79a Molecule	Protein Coding	16.08	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	UNG	Uracil DNA Glycosylase	Protein Coding	15.36	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TYK2	Tyrosine Kinase 2	Protein Coding	14.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Hyperimmunoglobulin Syndrome

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Expression for Hyperimmunoglobulin Syndrome

Search GEO for disease gene expression data for Hyperimmunoglobulin Syndrome.

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Pathways for Hyperimmunoglobulin Syndrome

Pathways related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	NF-kappaB Signaling ⁴	11.87	AICDA CD40LG CD79A STAT3 TYK2
2	Epstein-Barr virus infection ³⁷	11.85	CD40 STAT3 TYK2
3	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	11.73	CD40 CD40LG STAT3 TYK2
4	Interferon type I signaling pathways ¹	11.32	STAT3 TYK2
5	Signaling events mediated by PTP1B ¹	11.27	STAT3 TYK2
6	Interleukin-10 signaling ⁶⁶	11.25	STAT3 TYK2
7	Malaria ³⁷	11.24	CD40 CD40LG
8	Interleukin-11 Signaling Pathway ¹	11.18	STAT3 TYK2
9	B Cell Development Pathways ⁶⁵	11.16	CD40 CD40LG STAT3
10	Jak/STAT Signaling Pathway Intracellular Regulation ⁶⁵	11.13	STAT3 TYK2
11	Type III Interferon Signaling Pathways ⁶⁵ Show member pathways Type III interferon signaling ¹	11.1	STAT3 TYK2
12	IL-10 Pathway ⁶⁴	11.04	STAT3 TYK2
13	Inflammatory Response Pathway ¹	11	CD40 CD40LG
14	A-beta Pathways: Uptake and Degradation ⁶⁵	10.96	CD40 CD40LG
15	CD40/CD40L signaling ¹	10.91	CD40 CD40LG
16	Immune response_IL-12 signaling pathway ²² Show member pathways Interleukin-12 signaling ⁶⁶	10.87	STAT3 TYK2
17	Immune response_Oncostatin M signaling via JAK-Stat in human cells ²²	10.6	STAT3 TYK2
18	Primary immunodeficiency ³⁷	10.59	AICDA CD40 CD40LG CD79A UNG

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GO Terms for Hyperimmunoglobulin Syndrome

Cellular components related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	8.8	CD40 CD40LG CD79A

Biological processes related to Hyperimmunoglobulin Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	B cell activation	GO:0042113	9.48	CD40 CD79A
2	positive regulation of interleukin-12 production	GO:0032735	9.46	CD40 CD40LG
3	positive regulation of endothelial cell apoptotic process	GO:2000353	9.43	CD40 CD40LG
4	somatic hypermutation of immunoglobulin genes	GO:0016446	9.4	AICDA UNG
5	isotype switching	GO:0045190	9.37	AICDA CD40LG
6	B cell differentiation	GO:0030183	9.33	AICDA CD40LG CD79A
7	interleukin-27-mediated signaling pathway	GO:0070106	9.32	STAT3 TYK2
8	interleukin-23-mediated signaling pathway	GO:0038155	9.26	STAT3 TYK2
9	regulation of immunoglobulin secretion	GO:0051023	8.96	CD40 CD40LG
10	B cell proliferation	GO:0042100	8.8	CD40 CD40LG CD79A

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