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 CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappaB Signaling and Epstein-Barr virus infection. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and cellular

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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 all 25)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency with hyper-igm, type 4	31.3	AICDA CD40 CD40LG UNG
2	immunodeficiency with hyper-igm, type 2	31.0	AICDA CD40 CD40LG KMT5B UNG
3	immunodeficiency with hyper-igm, type 5	11.1
4	light fixation seizure syndrome	10.1	CD40 CD40LG
5	sulfamethoxazole allergy	10.1	CD40 CD40LG
6	immunodeficiency 17	10.1	CD40LG DOCK8
7	exanthema subitum	10.1	CD40 CD40LG
8	suppurative lymphadenitis	10.1	DOCK8 STAT3
9	congenital rubella	10.0	CD40LG UNG
10	agammaglobulinemia, x-linked	10.0	CD40 CD40LG
11	waldenstrom macroglobulinemia	10.0	CD40 CD40LG
12	immune deficiency disease	10.0	CD40 CD40LG DOCK8
13	common variable immunodeficiency	10.0	AICDA CD40 CD40LG
14	burkitt lymphoma	10.0	AICDA CD40 CD40LG
15	toxoplasmosis	9.9	CD40 CD40LG
16	transient hypogammaglobulinemia of infancy	9.9	CD40 CD40LG UNG
17	mixed lacrimal gland cancer	9.9	STAT3 TYK2
18	autoimmune disease	9.9	CD40 CD40LG STAT3
19	immunodeficiency with hyper-igm, type 3	9.9	AICDA CD40 CD40LG DOCK8
20	b cell deficiency	9.9	AICDA CD40 CD40LG STAT3
21	leukemia, chronic lymphocytic	9.8	AICDA CD40 CD40LG STAT3
22	cd40 ligand deficiency	9.8	AICDA CD40 CD40LG UNG
23	immunodeficiency with hyper-igm, type 1	9.8	AICDA CD40 CD40LG UNG
24	hyper-ige recurrent infection syndrome, autosomal dominant	9.6	DOCK8 PGM3 STAT3 TYK2
25	hyper ige syndrome	9.6	DOCK8 PGM3 STAT3 TYK2

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	hematopoietic system	MP:0005397	9.81	AICDA CD40 CD40LG DOCK8 KMT5B PGM3
2	cellular	MP:0005384	9.8	AICDA CD40LG DOCK8 KMT5B STAT3 TYK2
3	immune system	MP:0005387	9.61	AICDA CD40 CD40LG DOCK8 KMT5B PGM3
4	mortality/aging	MP:0010768	9.17	AICDA CD40LG KMT5B PGM3 STAT3 TYK2

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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

MalaCards organs/tissues related to Hyperimmunoglobulin Syndrome:

⁴¹

B Cells

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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 )		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	CD40LG	CD40 Ligand	Protein Coding	18.62	DISEASES inferred ¹⁵
2	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	17.72	DISEASES inferred ¹⁵
3	CD40	CD40 Molecule	Protein Coding	17.38	DISEASES inferred ¹⁵
4	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	17.31	DISEASES inferred ¹⁵
5	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	17.31	DISEASES inferred ¹⁵
6	PGM3	Phosphoglucomutase 3	Protein Coding	15.73	DISEASES inferred ¹⁵
7	UNG	Uracil DNA Glycosylase	Protein Coding	15.28	DISEASES inferred ¹⁵
8	TYK2	Tyrosine Kinase 2	Protein Coding	14.89	DISEASES inferred ¹⁵
9	KMT5B	Lysine Methyltransferase 5B	Protein Coding	14.72	DISEASES inferred ¹⁵

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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 21)

#	Super pathways	Score	Top Affiliating Genes
1	NF-kappaB Signaling ⁴	12.07	AICDA CD40LG STAT3 TYK2
2	Epstein-Barr virus infection ³⁷	11.85	CD40 STAT3 TYK2
3	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	11.53	CD40 CD40LG STAT3 TYK2
4	IL4-mediated signaling events ¹	11.4	AICDA CD40LG
5	Interleukin-6 family signaling ⁶⁶ Show member pathways IL-6-type cytokine receptor ligand interactions ⁶⁶ Interleukin-6 signaling ⁶⁶	11.35	STAT3 TYK2
6	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁵	11.35	CD40 CD40LG
7	Interferon type I signaling pathways ¹	11.32	STAT3 TYK2
8	Signaling events mediated by PTP1B ¹	11.27	STAT3 TYK2
9	Interleukin-10 signaling ⁶⁶	11.25	STAT3 TYK2
10	Malaria ³⁷	11.24	CD40 CD40LG
11	Interleukin-11 Signaling Pathway ¹	11.18	STAT3 TYK2
12	Jak/STAT Signaling Pathway Intracellular Regulation ⁶⁵	11.13	STAT3 TYK2
13	Type III Interferon Signaling Pathways ⁶⁵ Show member pathways Type III interferon signaling ¹	11.1	STAT3 TYK2
14	B Cell Development Pathways ⁶⁵	11.06	CD40 CD40LG STAT3
15	IL-10 Pathway ⁶⁴	11.04	STAT3 TYK2
16	Inflammatory Response Pathway ¹	11	CD40 CD40LG
17	A-beta Pathways: Uptake and Degradation ⁶⁵	10.96	CD40 CD40LG
18	CD40/CD40L signaling ¹	10.91	CD40 CD40LG
19	Immune response_IL-12 signaling pathway ²² Show member pathways Interleukin-12 signaling ⁶⁶	10.87	STAT3 TYK2
20	Immune response_Oncostatin M signaling via JAK-Stat in human cells ²²	10.6	STAT3 TYK2
21	Primary immunodeficiency ³⁷	10.49	AICDA CD40 CD40LG UNG

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GO Terms for Hyperimmunoglobulin Syndrome

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	inflammatory response	GO:0006954	9.63	CD40 CD40LG STAT3
2	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.49	CD40 STAT3
3	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.48	CD40 CD40LG
4	B cell proliferation	GO:0042100	9.43	CD40 CD40LG
5	positive regulation of interleukin-12 production	GO:0032735	9.4	CD40 CD40LG
6	positive regulation of endothelial cell apoptotic process	GO:2000353	9.37	CD40 CD40LG
7	somatic hypermutation of immunoglobulin genes	GO:0016446	9.32	AICDA UNG
8	isotype switching	GO:0045190	9.26	AICDA CD40LG
9	interleukin-27-mediated signaling pathway	GO:0070106	9.16	STAT3 TYK2
10	interleukin-23-mediated signaling pathway	GO:0038155	8.96	STAT3 TYK2
11	regulation of immunoglobulin secretion	GO:0051023	8.62	CD40 CD40LG

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