CVID5
MCID: IMM032
MIFTS: 18

Immunodeficiency, Common Variable, 5 (CVID5)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 5

MalaCards integrated aliases for Immunodeficiency, Common Variable, 5:

Name: Immunodeficiency, Common Variable, 5 57 74 13 72
Antibody Deficiency Due to Cd20 Defect 57 74
Common Variable Immunodeficiency 5 29 6
Cvid5 57 74
Immunodeficiency, Variable, Common, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one patient has been reported (as of july 2010)


HPO:

32
immunodeficiency, common variable, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D017074
MedGen 42 C3150740
UMLS 72 C3150740

Summaries for Immunodeficiency, Common Variable, 5

UniProtKB/Swiss-Prot : 74 Immunodeficiency, common variable, 5: 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, 5, is also known as antibody deficiency due to cd20 defect. An important gene associated with Immunodeficiency, Common Variable, 5 is MS4A1 (Membrane Spanning 4-Domains A1). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

More information from OMIM: 613495 PS607594

Related Diseases for Immunodeficiency, Common Variable, 5

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 5

Human phenotypes related to Immunodeficiency, Common Variable, 5:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 decreased antibody level in blood 32 HP:0004313
4 recurrent bacterial infections 32 HP:0002718

Symptoms via clinical synopsis from OMIM:

57
Immunology:
recurrent bacterial infections
normal numbers of b cells
normal numbers of t cells
reduced numbers of memory b cells
b cells lack surface cd20 expression
more
Laboratory Abnormalities:
hypogammaglobulinemia
low serum igg and iga
low or normal serum igm

Respiratory:
respiratory infections, recurrent

Clinical features from OMIM:

613495

Drugs & Therapeutics for Immunodeficiency, Common Variable, 5

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 5

Genetic Tests for Immunodeficiency, Common Variable, 5

Genetic tests related to Immunodeficiency, Common Variable, 5:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 5 29 MS4A1

Anatomical Context for Immunodeficiency, Common Variable, 5

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 5:

41
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 5

Articles related to Immunodeficiency, Common Variable, 5:

# Title Authors PMID Year
1
CD20 deficiency in humans results in impaired T cell-independent antibody responses. 8 71
20038800 2010
2
Treatment with rituximab and brentuximab vedotin in a patient of common variable immune deficiency-associated classic Hodgkin lymphoma. 38
26966541 2016

Variations for Immunodeficiency, Common Variable, 5

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MS4A1 MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL indel Pathogenic
2 MS4A1 NM_152866.2(MS4A1): c.315G> C (p.Glu105Asp) single nucleotide variant Uncertain significance 11:60231796-60231796 11:60464323-60464323

Expression for Immunodeficiency, Common Variable, 5

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 5.

Pathways for Immunodeficiency, Common Variable, 5

GO Terms for Immunodeficiency, Common Variable, 5

Sources for Immunodeficiency, Common Variable, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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