Selective Immunoglobulin Deficiency Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Selective Immunoglobulin Deficiency Disease

MalaCards integrated aliases for Selective Immunoglobulin Deficiency Disease:

Name: Selective Immunoglobulin Deficiency Disease ¹² ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:6025

NCIt ⁴⁹ C27870

UMLS ⁷¹ C0543684 C1335942

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Summaries for Selective Immunoglobulin Deficiency Disease

Disease Ontology : ¹² A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.

MalaCards based summary : Selective Immunoglobulin Deficiency Disease is related to immunoglobulin a deficiency 1 and dysgammaglobulinemia. An important gene associated with Selective Immunoglobulin Deficiency Disease is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include b cells, and related phenotypes are hematopoietic system and immune system

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Related Diseases for Selective Immunoglobulin Deficiency Disease

Diseases related to Selective Immunoglobulin Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)

#	Related Disease	Score	Top Affiliating Genes
1	immunoglobulin a deficiency 1	31.4	TNFRSF13B TGM2 RNU4ATAC CLEC16A CD40LG
2	dysgammaglobulinemia	27.4	XIAP TNFRSF13B TGM2 SLAMF7 SLAMF6 SLAMF1
3	selective igm deficiency disease	11.3
4	selective igd deficiency disease	11.3
5	autoimmune peripheral neuropathy	10.5	ICOSLG CD40LG
6	autoimmune neuropathy	10.4	ICOSLG CD40LG
7	coronin-1a deficiency	10.4	SH2D1A MAGT1
8	cork-handlers' disease	10.4	CD8A CD40LG
9	selective igg deficiency disease	10.4	TNFRSF13B CD40LG
10	immunodeficiency with hyper-igm, type 5	10.4	TNFRSF13B CD40LG
11	early yaws	10.4	CD8A CD40LG
12	norwegian scabies	10.4	CD8A CD40LG
13	agammaglobulinemia, x-linked	10.4	SH2D1A ICOSLG CD40LG
14	viral exanthem	10.4	CD8A CD40LG
15	tertiary syphilis	10.4	CD8A CD40LG
16	acute retinal necrosis syndrome	10.4	CD8A CD40LG
17	oral hairy leukoplakia	10.4	SH2D1A CD8A
18	cerebritis	10.3	CD8A CD40LG
19	granulomatous hepatitis	10.3	CD8A CD40LG
20	trichohepatoenteric syndrome 2	10.3	ICOSLG CLEC16A
21	west nile encephalitis	10.3	CD8A CD40LG
22	secondary syphilis	10.3	CD8A CD40LG
23	parotid disease	10.3	CD8A CD40LG
24	west nile fever	10.3	CD8A CD40LG
25	immunodeficiency with hyper-igm, type 2	10.3	TNFRSF13B ICOSLG CD40LG
26	dacryoadenitis	10.3	ICOSLG CD8A
27	transient hypogammaglobulinemia	10.3	TNFRSF13B RNU4ATAC CD40LG
28	adenoid hypertrophy	10.3	CD8A CD40LG
29	xerophthalmia	10.3	CD8A CD40LG
30	miliary tuberculosis	10.3	CD8A CD40LG
31	mikulicz disease	10.3	SLAMF7 CD40LG
32	monkeypox	10.3	CD8A CD40LG
33	iritis	10.3	CD8A CD40LG
34	immunodeficiency with hyper-igm, type 3	10.3	ICOSLG CD8A CD40LG
35	cryptogenic organizing pneumonia	10.3	CD8A CD40LG
36	autoimmune disease of urogenital tract	10.3	ICOSLG CD8A CD40LG
37	primary thrombocytopenia	10.3	ICOSLG CD8A CD40LG
38	lichen disease	10.3	ICOSLG CD8A CD40LG
39	autoimmune disease of peripheral nervous system	10.3	ICOSLG CD8A CD40LG
40	t cell deficiency	10.3	ICOSLG CD8A CD40LG
41	autoimmune disease of blood	10.2	ICOSLG CD8A CD40LG
42	panuveitis	10.2	ICOSLG CD8A CD40LG
43	herpangina	10.2	ICOSLG CD8A CD40LG
44	autoimmune disease of exocrine system	10.2	ICOSLG CD8A CD40LG
45	coccidiosis	10.2	ICOSLG CD8A CD40LG
46	conjunctival disease	10.2	ICOSLG CD8A CD40LG
47	progressive multifocal leukoencephalopathy	10.2	ICOSLG CD8A CD40LG
48	thymus gland disease	10.2	ICOSLG CD8A CD40LG
49	paranasal sinus disease	10.2	ICOSLG CD8A CD40LG
50	rectal disease	10.2	ICOSLG CD8A CD40LG

Graphical network of the top 20 diseases related to Selective Immunoglobulin Deficiency Disease:

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Symptoms & Phenotypes for Selective Immunoglobulin Deficiency Disease

MGI Mouse Phenotypes related to Selective Immunoglobulin Deficiency Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.83	CD244 CD40LG CD84 CD8A LY9 MAGT1
2	immune system	MP:0005387	9.5	CD244 CD40LG CD84 CD8A LY9 MAGT1

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Drugs & Therapeutics for Selective Immunoglobulin Deficiency Disease

Search Clinical Trials , NIH Clinical Center for Selective Immunoglobulin Deficiency Disease

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Genetic Tests for Selective Immunoglobulin Deficiency Disease

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Anatomical Context for Selective Immunoglobulin Deficiency Disease

MalaCards organs/tissues related to Selective Immunoglobulin Deficiency Disease:

⁴⁰

B Cells

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Publications for Selective Immunoglobulin Deficiency Disease

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Genes for Selective Immunoglobulin Deficiency Disease

Genes related to Selective Immunoglobulin Deficiency Disease (0 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SH2D1A	SH2 Domain Containing 1A	Protein Coding	8.31	DISEASES inferred ¹⁵
2	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.36	DISEASES inferred ¹⁵ ¹⁵
3	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	7.24	DISEASES inferred ¹⁵
4	CD40LG	CD40 Ligand	Protein Coding	6.85	DISEASES inferred ¹⁵
5	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	6.78	DISEASES inferred ¹⁵ ¹⁵
6	LY9	Lymphocyte Antigen 9	Protein Coding	6.74	DISEASES inferred ¹⁵
7	SLAMF6	SLAM Family Member 6	Protein Coding	6.73	DISEASES inferred ¹⁵
8	CD84	CD84 Molecule	Protein Coding	6.68	DISEASES inferred ¹⁵
9	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	6.27	DISEASES inferred ¹⁵
10	MAGT1	Magnesium Transporter 1	Protein Coding	6.2	DISEASES inferred ¹⁵
11	CLEC16A	C-Type Lectin Domain Containing 16A	Protein Coding	6.12	DISEASES inferred ¹⁵
12	CD8A	CD8a Molecule	Protein Coding	5.84	DISEASES inferred ¹⁵
13	CD244	CD244 Molecule	Protein Coding	5.83	DISEASES inferred ¹⁵
14	SLAMF7	SLAM Family Member 7	Protein Coding	5.82	DISEASES inferred ¹⁵
15	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	5.8	DISEASES inferred ¹⁵
16	TGM2	Transglutaminase 2	Protein Coding	5.79	DISEASES inferred ¹⁵
17	STXBP2	Syntaxin Binding Protein 2	Protein Coding	5.65	DISEASES inferred ¹⁵
18	SH2D1B	SH2 Domain Containing 1B	Protein Coding	5.6	DISEASES inferred ¹⁵

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Variations for Selective Immunoglobulin Deficiency Disease

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Expression for Selective Immunoglobulin Deficiency Disease

Search GEO for disease gene expression data for Selective Immunoglobulin Deficiency Disease.

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Pathways for Selective Immunoglobulin Deficiency Disease

Pathways related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.09	SLAMF7 SLAMF6 SH2D1B SH2D1A ICOSLG CD8A
2	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.37	SLAMF1 CD8A CD244
3	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁴	11.32	SLAMF1 LY9 CD8A CD244
4	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.3	XIAP TNFRSF13B CD40LG
5	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.23	SLAMF7 SLAMF6 SH2D1B SH2D1A CD8A CD40LG
6	Primary immunodeficiency ³⁶	10.91	TNFRSF13B CD8A CD40LG

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GO Terms for Selective Immunoglobulin Deficiency Disease

Cellular components related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.77	TNFRSF13B STXBP2 SLAMF7 SLAMF6 SLAMF1 MAGT1
2	plasma membrane	GO:0005886	9.44	TNFRSF13B TGM2 STXBP2 SLAMF7 SLAMF6 SLAMF1

Biological processes related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	innate immune response	GO:0045087	9.86	SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A LY9
2	regulation of immune response	GO:0050776	9.7	SLAMF7 SLAMF6 SH2D1B SH2D1A ICOSLG CD8A
3	immune system process	GO:0002376	9.7	TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
4	positive regulation of natural killer cell mediated cytotoxicity	GO:0045954	9.4	SLAMF6 SH2D1A
5	positive regulation of interleukin-17 production	GO:0032740	9.37	SLAMF6 LY9
6	adaptive immune response	GO:0002250	9.36	TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
7	T-helper 17 cell lineage commitment	GO:0072540	9.32	SLAMF6 LY9

Molecular functions related to Selective Immunoglobulin Deficiency Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	MHC class I protein binding	GO:0042288	8.62	CD8A CD244

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