Immunodeficiency, Common Variable, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency, Common Variable, 3

MalaCards integrated aliases for Immunodeficiency, Common Variable, 3:

Name: Immunodeficiency, Common Variable, 3 ⁵⁸ ⁷⁶ ¹³

Antibody Deficiency Due to Cd19 Defect ⁵⁸ ⁷⁶

Common Variable Immunodeficiency 3 ³⁰ ⁶

Cvid3 ⁵⁸ ⁷⁶

Immunodeficiency, Variable, Common, Type 3 ⁴¹

Antibody Deficiency Due to Defect in Cd19 ⁷⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood

HPO:

³³

immunodeficiency, common variable, 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency with predominantly antibody defects

Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia

External Ids:

OMIM ⁵⁸ 613493

MeSH ⁴⁵ D017074

ICD10 ³⁴ D80.6

MedGen ⁴³ C3150738

SNOMED-CT via HPO ⁷⁰ 119250001 195788001 234532001 more

UMLS ⁷⁴ C3150738

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Summaries for Immunodeficiency, Common Variable, 3

UniProtKB/Swiss-Prot : ⁷⁶ Immunodeficiency, common variable, 3: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

MalaCards based summary : Immunodeficiency, Common Variable, 3, is also known as antibody deficiency due to cd19 defect. An important gene associated with Immunodeficiency, Common Variable, 3 is CD19 (CD19 Molecule). Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and recurrent otitis media

Description from OMIM: 613493

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Related Diseases for Immunodeficiency, Common Variable, 3

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 3

Human phenotypes related to Immunodeficiency, Common Variable, 3:

³³ (show all 6)

#	Description	HPO Source Accession
1	immunodeficiency ³³	HP:0002721
2	recurrent otitis media ³³	HP:0000403
3	decreased antibody level in blood ³³	HP:0004313
4	conjunctivitis ³³	HP:0000509
5	recurrent bacterial infections ³³	HP:0002718
6	recurrent sinusitis ³³	HP:0011108

Symptoms via clinical synopsis from OMIM:

⁵⁸

Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Laboratory Abnormalities:
low serum igg and iga
low or normal serum igm

Immunology:
hypogammaglobulinemia
normal numbers of b cells
bacterial infections, recurrent
defective antibody production
normal numbers of t cells
more

Head And Neck Ears:
otitis media, recurrent

Genitourinary Kidneys:
glomerulonephritis, postinfectious (1 patient)

Clinical features from OMIM:

613493

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 3

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 3

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Genetic Tests for Immunodeficiency, Common Variable, 3

Genetic tests related to Immunodeficiency, Common Variable, 3:

#	Genetic test	Affiliating Genes
1	Common Variable Immunodeficiency 3 ³⁰	CD19

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Anatomical Context for Immunodeficiency, Common Variable, 3

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 3:

⁴²

B Cells, T Cells

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Publications for Immunodeficiency, Common Variable, 3

Articles related to Immunodeficiency, Common Variable, 3:

#	Title	Authors	Year
1	Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency. ( 21159371 )	Vince N...DEFI Study Group	2011
2	Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation. ( 21330302 )	van Zelm MC...Mascart F	2011
3	Novel mutations in a Japanese patient with CD19 deficiency. ( 17882224 )	Kanegane H...Miyawaki T	2007
4	An antibody-deficiency syndrome due to mutations in the CD19 gene. ( 16672701 )	van Zelm MC...Franco JL	2006

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Genes for Immunodeficiency, Common Variable, 3

Genes related to Immunodeficiency, Common Variable, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD19	CD19 Molecule	Protein Coding	1017.99	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders (show sections)	16672701 21159371 17882224 (more) 21330302

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Variations for Immunodeficiency, Common Variable, 3

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CD19	CD19, 1-BP INS, 972A	insertion	Pathogenic
2	CD19	CD19, 2-BP DEL, 1384GA	deletion	Pathogenic
3	CD19	NM_001770.5(CD19): c.947-1G> T	single nucleotide variant	Pathogenic		GRCh37	Chromosome 16, 28947473: 28947473
4	CD19	NM_001770.5(CD19): c.947-1G> T	single nucleotide variant	Pathogenic		GRCh38	Chromosome 16, 28936152: 28936152
5	CD19	NM_001770.5(CD19): c.156G> C (p.Trp52Cys)	single nucleotide variant	Pathogenic	rs886037920	GRCh38	Chromosome 16, 28932413: 28932413
6	CD19	NM_001770.5(CD19): c.156G> C (p.Trp52Cys)	single nucleotide variant	Pathogenic	rs886037920	GRCh37	Chromosome 16, 28943734: 28943734
7	CD19	NM_001770.5(CD19): c.1464delC (p.Ser489Alafs)	deletion	Pathogenic	rs886037921	GRCh38	Chromosome 16, 28937803: 28937803
8	CD19	NM_001770.5(CD19): c.1464delC (p.Ser489Alafs)	deletion	Pathogenic	rs886037921	GRCh37	Chromosome 16, 28949124: 28949124
9	CD19	NM_001770.5(CD19): c.1653_*9delins23	indel	Pathogenic		GRCh38	Chromosome 16, 28938945: 28938972
10	CD19	NM_001770.5(CD19): c.1653_*9delins23	indel	Pathogenic		GRCh37	Chromosome 16, 28950266: 28950293

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Expression for Immunodeficiency, Common Variable, 3

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 3.

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Pathways for Immunodeficiency, Common Variable, 3

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GO Terms for Immunodeficiency, Common Variable, 3

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Sources for Immunodeficiency, Common Variable, 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Immunodeficiency, Common Variable, 3 (CVID3)

Aliases & Classifications for Immunodeficiency, Common Variable, 3

MalaCards integrated aliases for Immunodeficiency, Common Variable, 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency, Common Variable, 3

Related Diseases for Immunodeficiency, Common Variable, 3

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 3

Human phenotypes related to Immunodeficiency, Common Variable, 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency, Common Variable, 3

Genetic Tests for Immunodeficiency, Common Variable, 3

Genetic tests related to Immunodeficiency, Common Variable, 3:

Anatomical Context for Immunodeficiency, Common Variable, 3

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 3:

Publications for Immunodeficiency, Common Variable, 3

Articles related to Immunodeficiency, Common Variable, 3:

Genes for Immunodeficiency, Common Variable, 3

Genes related to Immunodeficiency, Common Variable, 3 (1 elite genes):

Variations for Immunodeficiency, Common Variable, 3

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 3:

Expression for Immunodeficiency, Common Variable, 3

Pathways for Immunodeficiency, Common Variable, 3

GO Terms for Immunodeficiency, Common Variable, 3

Sources for Immunodeficiency, Common Variable, 3