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 ⁷⁴

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2959

NCIt ⁵¹ C27579

UMLS ⁷⁴ C1334069

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Summaries for Hyperimmunoglobulin Syndrome

Disease Ontology : ¹² A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.

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 Allograft rejection and Immune response NFAT in immune response. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune 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 all 24)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency with hyper-igm, type 4	31.0	AICDA CD40 CD40LG UNG
2	immunodeficiency with hyper-igm, type 2	30.6	AICDA CD40 CD40LG ICOSLG UNG
3	immunodeficiency with hyper-igm, type 5	11.1
4	light fixation seizure syndrome	10.2	CD40 CD40LG
5	sulfamethoxazole allergy	10.2	CD40 CD40LG
6	suppurative lymphadenitis	10.1	DOCK8 STAT3
7	exanthema subitum	10.1	CD40 CD40LG
8	mixed lacrimal gland cancer	10.1	STAT3 TYK2
9	immunodeficiency 17	10.1	CD40LG DOCK8
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	9.9	AICDA CD40 CD40LG
14	congenital rubella	9.9	CD40LG UNG
15	burkitt lymphoma	9.9	AICDA CD40 CD40LG
16	autoimmune disease	9.9	CD40 CD40LG STAT3
17	toxoplasmosis	9.9	CD40 CD40LG
18	immunodeficiency with hyper-igm, type 3	9.8	AICDA CD40 CD40LG DOCK8
19	leukemia, chronic lymphocytic	9.8	AICDA CD40 CD40LG STAT3
20	transient hypogammaglobulinemia of infancy	9.8	CD40 CD40LG UNG
21	cd40 ligand deficiency	9.6	AICDA CD40 CD40LG UNG
22	immunodeficiency with hyper-igm, type 1	9.6	AICDA CD40 CD40LG UNG
23	b cell deficiency	9.5	AICDA CD40 CD40LG DOCK8 STAT3
24	hyper ige syndrome	9.5	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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.56	AICDA CD40 CD40LG DOCK8 PGM3 STAT3
2	immune system	MP:0005387	9.23	AICDA CD40 CD40LG DOCK8 PGM3 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

MalaCards organs/tissues related to Hyperimmunoglobulin Syndrome:

⁴²

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 )	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	CD40LG	CD40 Ligand	Protein Coding	18.7	DISEASES inferred ¹⁵
2	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	17.68	DISEASES inferred ¹⁵
3	CD40	CD40 Molecule	Protein Coding	17.4	DISEASES inferred ¹⁵
4	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	17.28	DISEASES inferred ¹⁵
5	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	17.27	DISEASES inferred ¹⁵
6	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	16.4	DISEASES inferred ¹⁵ ¹⁵
7	PGM3	Phosphoglucomutase 3	Protein Coding	15.73	DISEASES inferred ¹⁵
8	UNG	Uracil DNA Glycosylase	Protein Coding	15.26	DISEASES inferred ¹⁵
9	TYK2	Tyrosine Kinase 2	Protein Coding	14.93	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 24)

#	Super pathways	Score	Top Affiliating Genes
1	Allograft rejection ¹ ³⁸ Show member pathways Antigen processing and presentation ³⁸ Asthma ³⁸ Autoimmune thyroid disease ³⁸ CTL Mediated Apoptosis ⁶⁵ Graft-versus-host disease ³⁸ Intestinal immune network for IgA production ³⁸ THC Differentiation Pathway ⁶⁵ Type I diabetes mellitus ³⁸ Viral myocarditis ³⁸	12.47	AICDA CD40 CD40LG ICOSLG
2	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.35	CD40 CD40LG ICOSLG
3	NF-kappaB Signaling ⁴	12.14	AICDA CD40LG STAT3 TYK2
4	ICos-ICosL Pathway in T-Helper Cell ⁶⁵ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁵ CD28 Signaling in T-Helper Cell ⁶⁵	12.08	CD40 CD40LG ICOSLG
5	Cell adhesion molecules (CAMs) ³⁸	11.7	CD40 CD40LG ICOSLG
6	Toxoplasmosis ³⁸ Show member pathways Leishmaniasis ³⁸	11.53	CD40 CD40LG STAT3 TYK2
7	IL4-mediated signaling events ¹	11.41	AICDA CD40LG
8	Interleukin-6 family signaling ⁶⁷ Show member pathways IL-6-type cytokine receptor ligand interactions ⁶⁷ Interleukin-6 signaling ⁶⁷	11.37	STAT3 TYK2
9	Interferon type I signaling pathways ¹	11.34	STAT3 TYK2
10	Signaling events mediated by PTP1B ¹	11.29	STAT3 TYK2
11	Interleukin-10 signaling ⁶⁷	11.27	STAT3 TYK2
12	Malaria ³⁸	11.27	CD40 CD40LG
13	Interleukin-11 Signaling Pathway ¹	11.21	STAT3 TYK2
14	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁶	11.2	CD40 CD40LG ICOSLG
15	Jak/STAT Signaling Pathway Intracellular Regulation ⁶⁶	11.16	STAT3 TYK2
16	Type III Interferon Signaling Pathways ⁶⁶ Show member pathways Type III interferon signaling ¹	11.14	STAT3 TYK2
17	IL-10 Pathway ⁶⁵	11.08	STAT3 TYK2
18	B Cell Development Pathways ⁶⁶	11.06	CD40 CD40LG STAT3
19	Inflammatory Response Pathway ¹	11.03	CD40 CD40LG
20	A-beta Pathways: Uptake and Degradation ⁶⁶	11	CD40 CD40LG
21	CD40/CD40L signaling ¹	10.95	CD40 CD40LG
22	Immune response_IL-12 signaling pathway ²³ Show member pathways Interleukin-12 signaling ⁶⁷	10.92	STAT3 TYK2
23	Immune response_Oncostatin M signaling via JAK-Stat in human cells ²³	10.68	STAT3 TYK2
24	Primary immunodeficiency ³⁸	10.49	AICDA CD40 CD40LG 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 ICOSLG

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	inflammatory response	GO:0006954	9.69	CD40 CD40LG STAT3
2	regulation of immune response	GO:0050776	9.63	CD40 CD40LG ICOSLG
3	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.54	CD40 STAT3
4	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.52	CD40 CD40LG
5	T cell costimulation	GO:0031295	9.49	CD40LG ICOSLG
6	B cell proliferation	GO:0042100	9.48	CD40 CD40LG
7	B cell activation	GO:0042113	9.43	CD40 ICOSLG
8	positive regulation of interleukin-12 production	GO:0032735	9.4	CD40 CD40LG
9	positive regulation of endothelial cell apoptotic process	GO:2000353	9.37	CD40 CD40LG
10	somatic hypermutation of immunoglobulin genes	GO:0016446	9.32	AICDA UNG
11	isotype switching	GO:0045190	9.26	AICDA CD40LG
12	interleukin-27-mediated signaling pathway	GO:0070106	9.16	STAT3 TYK2
13	interleukin-23-mediated signaling pathway	GO:0038155	8.96	STAT3 TYK2
14	regulation of immunoglobulin secretion	GO:0051023	8.62	CD40 CD40LG

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