MCID: IMM079
MIFTS: 20

Immunodeficiency, Common Variable, 11

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

Aliases & Classifications for Immunodeficiency, Common Variable, 11

MalaCards integrated aliases for Immunodeficiency, Common Variable, 11:

Name: Immunodeficiency, Common Variable, 11 57 75 73
Common Variable Immunodeficiency 11 29 6
Il21 Deficiency 57 75
Cvid11 57 75
Il21-Related Infantile Inflammatory Bowel Disease 59
Immunodeficiency, Variable, Common, Type 11 40
Il21-Related Infantile Ibd 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency, common variable, 11:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Immunodeficiency, Common Variable, 11

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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
decreased numbers of mature b cells
normal numbers of t cells
t cells may show impaired proliferative response to tetanus toxoid


Clinical features from OMIM:

615767

Human phenotypes related to Immunodeficiency, Common Variable, 11:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 immunodeficiency 32 HP:0002721
4 growth delay 32 HP:0001510
5 inflammation of the large intestine 32 HP:0002037
6 decreased antibody level in blood 32 HP:0004313
7 chronic diarrhea 32 HP:0002028

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:

41
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 11

Variations for Immunodeficiency, Common Variable, 11

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

75
# Symbol AA change Variation ID SNP ID
1 IL21 p.Leu49Pro VAR_071292

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL21 NM_021803.3(IL21): c.146T> C (p.Leu49Pro) single nucleotide variant Pathogenic rs587777338 GRCh37 Chromosome 4, 123542021: 123542021
2 IL21 NM_021803.3(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 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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