MCID: IMM030
MIFTS: 18

Immunodeficiency, Common Variable, 3

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 57 75 13
Antibody Deficiency Due to Cd19 Defect 57 75
Common Variable Immunodeficiency 3 29 6
Cvid3 57 75
Immunodeficiency, Variable, Common, Type 3 40
Antibody Deficiency Due to Defect in Cd19 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
immunodeficiency, common variable, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613493
MedGen 42 C3150738
MeSH 44 D017074
UMLS 73 C3150738

Summaries for Immunodeficiency, Common Variable, 3

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Head And Neck Eyes:
conjunctivitis, recurrent

Genitourinary Kidneys:
glomerulonephritis, postinfectious (1 patient)

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

Head And Neck Ears:
otitis media, recurrent

Respiratory:
respiratory infections, recurrent

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

Clinical features from OMIM:

613493

Human phenotypes related to Immunodeficiency, Common Variable, 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent otitis media 32 HP:0000403
3 decreased antibody level in blood 32 HP:0004313
4 conjunctivitis 32 HP:0000509
5 recurrent bacterial infections 32 HP:0002718
6 recurrent sinusitis 32 HP:0011108

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 29 CD19

Anatomical Context for Immunodeficiency, Common Variable, 3

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

41
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 CD19, IVS6AS, G-T, -1 single nucleotide variant Pathogenic
4 CD19 NM_001770.5(CD19): c.156G> C (p.Trp52Cys) single nucleotide variant Pathogenic rs886037920 GRCh38 Chromosome 16, 28932413: 28932413
5 CD19 NM_001770.5(CD19): c.156G> C (p.Trp52Cys) single nucleotide variant Pathogenic rs886037920 GRCh37 Chromosome 16, 28943734: 28943734
6 CD19 NM_001770.5(CD19): c.1464delC (p.Ser489Alafs) deletion Pathogenic rs886037921 GRCh38 Chromosome 16, 28937803: 28937803
7 CD19 NM_001770.5(CD19): c.1464delC (p.Ser489Alafs) deletion Pathogenic rs886037921 GRCh37 Chromosome 16, 28949124: 28949124
8 CD19 NM_001770.5(CD19): c.1653_*9delins23 indel Pathogenic rs886037922 GRCh38 Chromosome 16, 28938945: 28938972
9 CD19 NM_001770.5(CD19): c.1653_*9delins23 indel Pathogenic rs886037922 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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