CVID11
MCID: IMM079
MIFTS: 23

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 57 72 70
Common Variable Immunodeficiency 11 29 6
Il21 Deficiency 57 72
Cvid11 57 72
Il21-Related Infantile Inflammatory Bowel Disease 58
Immunodeficiency, Variable, Common, Type 11 39
Il21-Related Infantile Ibd 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
immunodeficiency, common variable, 11:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


External Ids:

OMIM® 57 615767
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
Orphanet 58 ORPHA477661
UMLS 70 C4014258

Summaries for Immunodeficiency, Common Variable, 11

UniProtKB/Swiss-Prot : 72 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, also known as common variable immunodeficiency 11, is related to immunodeficiency 11 and inflammatory bowel disease 25, autosomal recessive. 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

More information from OMIM: 615767 PS607594

Related Diseases for Immunodeficiency, Common Variable, 11

Diseases related to Immunodeficiency, Common Variable, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 11 9.6 IL21-AS1 IL21
2 inflammatory bowel disease 25, autosomal recessive 9.6 IL21-AS1 IL21
3 common variable immunodeficiency 9.5 IL21-AS1 IL21

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 11

Human phenotypes related to Immunodeficiency, Common Variable, 11:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 recurrent respiratory infections 31 HP:0002205
3 immunodeficiency 31 HP:0002721
4 growth delay 31 HP:0001510
5 inflammation of the large intestine 31 HP:0002037
6 chronic diarrhea 31 HP:0002028
7 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 IL21

Anatomical Context for Immunodeficiency, Common Variable, 11

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

40
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 11

Articles related to Immunodeficiency, Common Variable, 11:

# Title Authors PMID Year
1
Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. 57 6
24746753 2014

Variations for Immunodeficiency, Common Variable, 11

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL21-AS1 , IL21 NM_021803.4(IL21):c.146T>C (p.Leu49Pro) SNV Pathogenic 127140 rs587777338 GRCh37: 4:123542021-123542021
GRCh38: 4:122620866-122620866
2 IL21-AS1 , IL21 NM_021803.4(IL21):c.119G>A (p.Arg40His) SNV Uncertain significance 945417 GRCh37: 4:123542048-123542048
GRCh38: 4:122620893-122620893

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

72
# Symbol AA change Variation ID SNP ID
1 IL21 p.Leu56Pro VAR_071292

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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