MCID: IMM032
MIFTS: 24

Immunodeficiency, Common Variable, 5

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 54 71 13 69
Antibody Deficiency Due to Cd20 Defect 71
Common Variable Immunodeficiency 5 29
Cvid5 71

Characteristics:

OMIM:

54
Miscellaneous:
onset in early childhood
one patient has been reported (as of july 2010)

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 613495
MedGen 40 C3150740
MeSH 42 D017074

Summaries for Immunodeficiency, Common Variable, 5

UniProtKB/Swiss-Prot : 71 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, also known as antibody deficiency due to cd20 defect, is related to ms4a1-related common variable immune deficiency, and has symptoms including recurrent respiratory infections, immunodeficiency and recurrent bacterial infections. An important gene associated with Immunodeficiency, Common Variable, 5 is MS4A1 (Membrane Spanning 4-Domains A1). The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung.

Description from OMIM: 613495

Related Diseases for Immunodeficiency, Common Variable, 5

Diseases related to Immunodeficiency, Common Variable, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ms4a1-related common variable immune deficiency 11.2

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 5

Symptoms via clinical synopsis from OMIM:

54

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

Respiratory:
respiratory infections, recurrent

Immunology:
normal numbers of t cells
defective antibody production, particularly t-cell-independent
reduced numbers of memory b cells
b cells lack surface cd20 expression
normal numbers of b cells
more

Clinical features from OMIM:

613495

Human phenotypes related to Immunodeficiency, Common Variable, 5:

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

Drugs & Therapeutics for Immunodeficiency, Common Variable, 5

Drugs for Immunodeficiency, Common Variable, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3
2 Immunoglobulins Phase 4,Phase 3
3 gamma-Globulins Phase 4,Phase 3
4 Immunoglobulins, Intravenous Phase 4,Phase 3
5 Rho(D) Immune Globulin Phase 4,Phase 3
6
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Everolimus Approved Phase 2 159351-69-6 6442177
10
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
13
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
14 Interleukin-12 Phase 1, Phase 2
15 Dermatologic Agents Phase 1, Phase 2
16 Anti-Bacterial Agents Phase 2
17 Antibiotics, Antitubercular Phase 2
18 Immunosuppressive Agents Phase 2
19
Xylometazoline Approved Phase 1 526-36-3 5709
20 Immunoglobulin A Phase 1
21
Benzocaine Approved 1994-09-7, 94-09-7 2337
22 tannic acid Approved, Nutraceutical

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
4 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
5 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
6 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
7 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
8 Study of Safety, Tolerability, and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Recruiting NCT02199496 Phase 1, Phase 2
9 Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning;Reduced Intensity Conditioning;Myeloablative Conditioning;GVHD Prophylaxis;Reduced Intensity MycophenolateMofetil Conditioning (RIC-MMF);MMF GVHD Prophylaxis
10 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
11 STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
12 B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency Completed NCT00024934 Phase 1 B-Lymphocyte Stimulator (BLyS)
13 Lymphocyte Immunophenotyping in Common Variable Immunodeficiency Unknown status NCT01196702
14 Specific IgG Antibody in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Completed NCT00661401
15 Natural History of Bronchiectasis Recruiting NCT00943514

Search NIH Clinical Center for Immunodeficiency, Common Variable, 5

Genetic Tests for Immunodeficiency, Common Variable, 5

Genetic tests related to Immunodeficiency, Common Variable, 5:

id Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 5 29

Anatomical Context for Immunodeficiency, Common Variable, 5

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

39
B Cells, T Cells, Lung, Bone, Bone Marrow

Publications for Immunodeficiency, Common Variable, 5

Variations for Immunodeficiency, Common Variable, 5

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MS4A1 MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL indel Pathogenic

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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