CVID11
MCID: IMM079
MIFTS: 20

Immunodeficiency, Common Variable, 11 (CVID11)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 11

MalaCards integrated aliases for Immunodeficiency, Common Variable, 11:

Name: Immunodeficiency, Common Variable, 11 58 76 74
Common Variable Immunodeficiency 11 30 6
Il21 Deficiency 58 76
Cvid11 58 76
Il21-Related Infantile Inflammatory Bowel Disease 60
Immunodeficiency, Variable, Common, Type 11 41
Il21-Related Infantile Ibd 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one family has been reported (last curated april 2014)


HPO:

33
immunodeficiency, common variable, 11:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 11

UniProtKB/Swiss-Prot : 76 Immunodeficiency, common variable, 11: 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, 11, is also known as common variable immunodeficiency 11. An important gene associated with Immunodeficiency, Common Variable, 11 is IL21 (Interleukin 21). Affiliated tissues include b cells and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections

Description from OMIM: 615767

Related Diseases for Immunodeficiency, Common Variable, 11

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 11

Human phenotypes related to Immunodeficiency, Common Variable, 11:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 recurrent respiratory infections 33 HP:0002205
3 immunodeficiency 33 HP:0002721
4 growth delay 33 HP:0001510
5 inflammation of the large intestine 33 HP:0002037
6 decreased antibody level in blood 33 HP:0004313
7 chronic diarrhea 33 HP:0002028

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
poor growth

Abdomen Gastrointestinal:
chronic diarrhea
inflammatory bowel disease

Respiratory:
recurrent respiratory infections

Immunology:
hypogammaglobulinemia
decreased numbers of b cells
normal numbers of t cells
decreased numbers of mature b cells
t cells may show impaired proliferative response to tetanus toxoid

Clinical features from OMIM:

615767

Drugs & Therapeutics for Immunodeficiency, Common Variable, 11

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 11

Genetic Tests for Immunodeficiency, Common Variable, 11

Genetic tests related to Immunodeficiency, Common Variable, 11:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 11 30 IL21

Anatomical Context for Immunodeficiency, Common Variable, 11

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 11:

42
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 11

Articles related to Immunodeficiency, Common Variable, 11:

# Title Authors Year
1
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. ( 24746753 )
2014

Variations for Immunodeficiency, Common Variable, 11

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 11:

76
# Symbol AA change Variation ID SNP ID
1 IL21 p.Leu56Pro VAR_071292

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL21 NM_021803.4(IL21): c.146T> C (p.Leu49Pro) single nucleotide variant Pathogenic rs587777338 GRCh37 Chromosome 4, 123542021: 123542021
2 IL21 NM_021803.4(IL21): c.146T> C (p.Leu49Pro) single nucleotide variant Pathogenic rs587777338 GRCh38 Chromosome 4, 122620866: 122620866

Expression for Immunodeficiency, Common Variable, 11

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 11.

Pathways for Immunodeficiency, Common Variable, 11

GO Terms for Immunodeficiency, Common Variable, 11

Sources for Immunodeficiency, Common Variable, 11

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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