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 Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include b cells, bone and thymus, 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 137)

#	Related Disease	Score	Top Affiliating Genes
1	immunoglobulin a deficiency 1	32.2	TNFRSF13B ICOSLG CLEC16A CD40LG
2	dysgammaglobulinemia	27.5	XIAP UNC13D TNFRSF13B STXBP2 STX11 SLAMF7
3	selective igm deficiency disease	11.3
4	selective igd deficiency disease	11.3
5	coronin-1a deficiency	10.4	SH2D1A MAGT1
6	autoimmune neuropathy	10.4	ICOSLG CD40LG
7	transient hypogammaglobulinemia of infancy	10.4	TNFRSF13B CD40LG
8	agammaglobulinemia, x-linked	10.4	SH2D1A ICOSLG CD40LG
9	immunodeficiency with hyper-igm, type 5	10.4	TNFRSF13B CD40LG
10	immunodeficiency with hyper-igm, type 2	10.3	TNFRSF13B ICOSLG CD40LG
11	mikulicz disease	10.3	SLAMF7 ICOSLG
12	autoimmune disease of peripheral nervous system	10.2	ICOSLG CD40LG
13	monoclonal gammopathy of uncertain significance	10.2	SLAMF7 ICOSLG CD40LG
14	blood protein disease	10.2	SLAMF7 ICOSLG CD40LG
15	smoldering myeloma	10.2	SLAMF7 LY9 CD40LG
16	cd40 ligand deficiency	10.2	TNFRSF13B SH2D1A ICOSLG CD40LG
17	primary hemophagocytic lymphohistiocytosis	10.2	UNC13D STX11
18	hemophagocytic lymphohistiocytosis, familial, 5	10.1	STXBP2 STX11
19	agammaglobulinemia	10.1	STX11 ICOSLG CD40LG
20	cranial nerve palsy	10.1	UNC13D CD40LG
21	cork-handlers' disease	10.1	CD8A CD40LG
22	syphilitic meningitis	10.1	CD8A CD40LG
23	early yaws	10.0	CD8A CD40LG
24	norwegian scabies	10.0	CD8A CD40LG
25	tertiary syphilis	10.0	CD8A CD40LG
26	acute retinal necrosis syndrome	10.0	CD8A CD40LG
27	granulomatous hepatitis	10.0	CD8A CD40LG
28	oral hairy leukoplakia	10.0	SH2D1A CD8A
29	west nile encephalitis	10.0	CD8A CD40LG
30	cerebritis	10.0	CD8A CD40LG
31	parotid disease	10.0	CD8A CD40LG
32	immunodeficiency 19	10.0	SH2D1A CD8A
33	secondary syphilis	10.0	CD8A CD40LG
34	immune deficiency disease	10.0	TNFRSF13B SLAMF1 SH2D1A ICOSLG CD40LG
35	west nile fever	10.0	CD8A CD40LG
36	hemophagocytic lymphohistiocytosis, familial, 3	10.0	UNC13D STX11
37	blastomycosis	10.0	CD8A CD40LG
38	adenoid hypertrophy	10.0	CD8A CD40LG
39	autoimmune disease of cardiovascular system	10.0	ICOSLG CD8A
40	uveoparotid fever	9.9	CD8A CD40LG
41	duodenitis	9.9	CD8A CD40LG
42	ebola hemorrhagic fever	9.9	ICOSLG CD8A CD40LG
43	childhood type dermatomyositis	9.9	ICOSLG CD8A CD40LG
44	primary thrombocytopenia	9.9	ICOSLG CD8A CD40LG
45	monkeypox	9.9	CD8A CD40LG
46	lichen disease	9.9	ICOSLG CD8A CD40LG
47	autoimmune disease of blood	9.9	ICOSLG CD8A CD40LG
48	anemia, autoimmune hemolytic	9.9	ICOSLG CD8A CD40LG
49	lacrimal apparatus disease	9.9	ICOSLG CD8A CD40LG
50	chickenpox	9.9	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	9.86	CD244 CD40LG CD84 CD8A LY9 MAGT1
2	immune system	MP:0005387	9.53	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, Bone, Thymus, T Cells, Bone Marrow, Lymph Node, Spinal Cord

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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	7.99	DISEASES inferred ¹⁵ ¹⁵
3	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	7.28	DISEASES inferred ¹⁵
4	CD40LG	CD40 Ligand	Protein Coding	6.84	DISEASES inferred ¹⁵
5	LY9	Lymphocyte Antigen 9	Protein Coding	6.81	DISEASES inferred ¹⁵
6	SLAMF6	SLAM Family Member 6	Protein Coding	6.79	DISEASES inferred ¹⁵
7	CD84	CD84 Molecule	Protein Coding	6.74	DISEASES inferred ¹⁵
8	MAGT1	Magnesium Transporter 1	Protein Coding	6.38	DISEASES inferred ¹⁵
9	CLEC16A	C-Type Lectin Domain Containing 16A	Protein Coding	6.22	DISEASES inferred ¹⁵
10	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	6.13	DISEASES inferred ¹⁵
11	CD244	CD244 Molecule	Protein Coding	6.05	DISEASES inferred ¹⁵
12	STXBP2	Syntaxin Binding Protein 2	Protein Coding	5.93	DISEASES inferred ¹⁵
13	UNC13D	Unc-13 Homolog D	Protein Coding	5.92	DISEASES inferred ¹⁵
14	SLAMF7	SLAM Family Member 7	Protein Coding	5.92	DISEASES inferred ¹⁵
15	STX11	Syntaxin 11	Protein Coding	5.81	DISEASES inferred ¹⁵
16	SH2D1B	SH2 Domain Containing 1B	Protein Coding	5.78	DISEASES inferred ¹⁵
17	CD8A	CD8a Molecule	Protein Coding	5.74	DISEASES inferred ¹⁵
18	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	5.68	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	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.75	UNC13D TNFRSF13B SLAMF7 SLAMF6 SH2D1B SH2D1A
2	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.16	SLAMF7 SLAMF6 SH2D1B SH2D1A ICOSLG CD8A
3	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.62	SLAMF1 LY9 CD8A CD244
4	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.56	SLAMF7 SLAMF6 SH2D1B SH2D1A CD8A CD40LG
5	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.45	SLAMF1 CD8A CD244
6	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	11.41	XIAP TNFRSF13B CD40LG
7	T Cell Co-Signaling Pathway: Ligand-Receptor Interactions ⁶⁴	11.22	SLAMF1 ICOSLG CD40LG CD244
8	Primary immunodeficiency ³⁶	11.08	TNFRSF13B CD8A CD40LG
9	B Cell Development Pathways ⁶⁴	10.75	TNFRSF13B SLAMF1 CD84 CD40LG CD244

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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	membrane	GO:0016020	10.03	UNC13D TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6
2	plasma membrane	GO:0005886	9.77	TNFRSF13B STXBP2 STX11 SLAMF7 SLAMF6 SLAMF1
3	external side of plasma membrane	GO:0009897	9.56	ICOSLG CD8A CD40LG CD244
4	integral component of membrane	GO:0016021	9.47	TNFRSF13B STXBP2 STX11 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	exocytosis	GO:0006887	9.61	UNC13D STXBP2 STX11
4	adaptive immune response	GO:0002250	9.56	TNFRSF13B SLAMF7 SLAMF1 SH2D1B SH2D1A ICOSLG
5	positive regulation of natural killer cell mediated cytotoxicity	GO:0045954	9.46	SLAMF6 SH2D1A
6	positive regulation of interleukin-17 production	GO:0032740	9.4	SLAMF6 LY9
7	regulation of mast cell degranulation	GO:0043304	9.37	UNC13D STXBP2
8	immune system process	GO:0002376	9.36	TNFRSF13B SLAMF7 SLAMF6 SLAMF1 SH2D1B SH2D1A
9	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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