CVID3
MCID: IMM030
MIFTS: 18

Immunodeficiency, Common Variable, 3 (CVID3)

Categories: Genetic diseases, Immune diseases

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:



External Ids:

OMIM 58 613493
MeSH 45 D017074
ICD10 34 D80.6
MedGen 43 C3150738
UMLS 74 C3150738

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

Related Diseases for Immunodeficiency, Common Variable, 3

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 3

Human phenotypes related to Immunodeficiency, Common Variable, 3:

33 (show all 6)
# Description HPO Frequency 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

Drugs & Therapeutics for Immunodeficiency, Common Variable, 3

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

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

Anatomical Context for Immunodeficiency, Common Variable, 3

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

42
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 3

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

Expression for Immunodeficiency, Common Variable, 3

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

Pathways for Immunodeficiency, Common Variable, 3

GO Terms for Immunodeficiency, Common Variable, 3

Sources for Immunodeficiency, Common Variable, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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