CVID2
MCID: IMM034
MIFTS: 40

Immunodeficiency, Common Variable, 2 (CVID2)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 2

MalaCards integrated aliases for Immunodeficiency, Common Variable, 2:

Name: Immunodeficiency, Common Variable, 2 57 74 13 72
Hypogammaglobulinemia Due to Taci Deficiency 57 74
Antibody Deficiency Due to Taci Defect 57 74
Common Variable Immunodeficiency 2 29 6
Cvid2 57 74
Immunodeficiency, Variable, Common, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in first or second decades


HPO:

32
immunodeficiency, common variable, 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D017074
MedGen 42 C3150354
UMLS 72 C3150354

Summaries for Immunodeficiency, Common Variable, 2

UniProtKB/Swiss-Prot : 74 Immunodeficiency, common variable, 2: 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, 2, also known as hypogammaglobulinemia due to taci deficiency, is related to immune deficiency disease and common variable immunodeficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency, Common Variable, 2 is TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are Allograft rejection and RANK Signaling in Osteoclasts. Affiliated tissues include b cells, t cells and lymph node, and related phenotypes are splenomegaly and hepatomegaly

More information from OMIM: 240500 PS607594

Related Diseases for Immunodeficiency, Common Variable, 2

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 2:



Diseases related to Immunodeficiency, Common Variable, 2

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 2

Human phenotypes related to Immunodeficiency, Common Variable, 2:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 immunodeficiency 32 HP:0002721
4 neoplasm 32 HP:0002664
5 autoimmunity 32 HP:0002960
6 recurrent otitis media 32 HP:0000403
7 impaired t cell function 32 HP:0005435
8 lymphoma 32 HP:0002665
9 diarrhea 32 HP:0002014
10 conjunctivitis 32 HP:0000509
11 meningitis 32 HP:0001287
12 recurrent pneumonia 32 HP:0006532
13 recurrent bacterial infections 32 HP:0002718
14 decreased circulating iga level 32 HP:0002720
15 decreased circulating igg level 32 HP:0004315
16 bronchiectasis 32 HP:0002110
17 decreased circulating total igm 32 HP:0002850
18 recurrent bronchitis 32 HP:0002837
19 follicular hyperplasia 32 HP:0002729
20 recurrent sinusitis 32 HP:0011108

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Neoplasia:
lymphoma

Head And Neck Eyes:
conjunctivitis

Immunology:
recurrent bacterial infections
lymphadenopathy
autoimmune disorders
hypogammaglobulinemia
defective antibody production
more
Head And Neck Head:
sinusitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Neurologic Central Nervous System:
meningitis

Respiratory Airways:
bronchiectasis
bronchitis, recurrent

Head And Neck Ears:
otitis media, recurrent

Laboratory Abnormalities:
markedly reduced iga levels
markedly reduced igg levels
reduced igm levels
anti-iga antibodies commonly present

Clinical features from OMIM:

240500

UMLS symptoms related to Immunodeficiency, Common Variable, 2:


diarrhea

MGI Mouse Phenotypes related to Immunodeficiency, Common Variable, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
2 homeostasis/metabolism MP:0005376 9.55 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
3 immune system MP:0005387 9.35 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
4 neoplasm MP:0002006 8.8 CD19 ICOS TNFRSF13B

Drugs & Therapeutics for Immunodeficiency, Common Variable, 2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 2

Genetic Tests for Immunodeficiency, Common Variable, 2

Genetic tests related to Immunodeficiency, Common Variable, 2:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 2 29 CD19 CR2 ICOS TNFRSF13B TNFRSF13C

Anatomical Context for Immunodeficiency, Common Variable, 2

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 2:

41
B Cells, T Cells, Lymph Node

Publications for Immunodeficiency, Common Variable, 2

Articles related to Immunodeficiency, Common Variable, 2:

# Title Authors PMID Year
1
TACI is mutant in common variable immunodeficiency and IgA deficiency. 8 71
16007086 2005
2
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 8 71
16007087 2005
3
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 71
19605846 2009
4
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. 8
18981294 2009
5
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 71
17492055 2007
6
TACI mutation in common variable immunodeficiency and IgA deficiency. 71
16899196 2006
7
Unraveling TACIt functions. 8
16049503 2005
8
Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical cases. 38
24462347 2014
9
Current spectrum of malabsorption syndrome in adults in India. 38
21369836 2011
10
Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. 38
20514300 2010

Variations for Immunodeficiency, Common Variable, 2

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 2:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF13B NM_012452.2(TNFRSF13B): c.49del (p.Gln17fs) deletion Pathogenic rs1555550717 17:16875341-16875341 17:16972027-16972027
2 TNFRSF13B TNFRSF13B, 1-BP INS, 204A insertion Pathogenic
3 TNFRSF13B NM_012452.2(TNFRSF13B): c.581_582delCCinsAA (p.Ser194Ter) indel Pathogenic rs121908379 17:16843689-16843690 17:16940375-16940376
4 TNFRSF13B NM_012452.2(TNFRSF13B): c.431C> A (p.Ser144Ter) single nucleotide variant Pathogenic rs104894650 17:16852066-16852066 17:16948752-16948752
5 TNFRSF13B NM_012452.2(TNFRSF13B): c.492C> G (p.Tyr164Ter) single nucleotide variant Pathogenic rs72553882 17:16843779-16843779 17:16940465-16940465
6 TNFRSF13B NM_012452.2(TNFRSF13B): c.431C> G (p.Ser144Ter) single nucleotide variant Pathogenic rs104894650 17:16852066-16852066 17:16948752-16948752
7 TNFRSF13B NM_012452.2(TNFRSF13B): c.572dup (p.Asp191fs) duplication Pathogenic 17:16843699-16843699 17:16940385-16940385
8 TNFRSF13B NM_012452.2(TNFRSF13B): c.61+1G> T single nucleotide variant Pathogenic 17:16875328-16875328 17:16972014-16972014
9 TNFRSF13B NM_012452.2(TNFRSF13B): c.93_94GA[3] (p.Ser33fs) short repeat Pathogenic 17:16855862-16855863 17:16952549-16952550
10 TNFRSF13B NM_012452.2(TNFRSF13B): c.222_226GCAAG[1] (p.Gly76fs) short repeat Pathogenic 17:16852266-16852270 17:16948952-16948956
11 TNFRSF13B NM_012452.2(TNFRSF13B): c.579C> A (p.Cys193Ter) single nucleotide variant Pathogenic 17:16843692-16843692 17:16940378-16940378
12 TNFRSF13B NM_012452.2(TNFRSF13B): c.311G> A (p.Cys104Tyr) single nucleotide variant Likely pathogenic 17:16852186-16852186 17:16948872-16948872
13 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 17:16852187-16852187 17:16948873-16948873
14 TNFRSF13B NM_012452.2(TNFRSF13B): c.260T> A (p.Ile87Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs72553877 17:16852237-16852237 17:16948923-16948923
15 TNFRSF13B NM_012452.2(TNFRSF13B): c.204dup (p.Leu69fs) duplication Conflicting interpretations of pathogenicity rs72553875 17:16852293-16852293 17:16948979-16948979
16 TNFRSF13B NM_012452.2(TNFRSF13B): c.236A> G (p.Tyr79Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs72553876 17:16852261-16852261 17:16948947-16948947
17 TNFRSF13B NM_012452.2(TNFRSF13B): c.542C> A (p.Ala181Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs72553883 17:16843729-16843729 17:16940415-16940415
18 TNFRSF13B NM_012452.2(TNFRSF13B): c.605G> A (p.Arg202His) single nucleotide variant Conflicting interpretations of pathogenicity rs104894649 17:16843666-16843666 17:16940352-16940352
19 TNFRSF13B NM_012452.2(TNFRSF13B): c.512T> G (p.Leu171Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143027621 17:16843759-16843759 17:16940445-16940445
20 TNFRSF13B NM_012452.2(TNFRSF13B): c.577T> C (p.Cys193Arg) single nucleotide variant Uncertain significance rs764125338 17:16843694-16843694 17:16940380-16940380
21 TNFRSF13B NM_012452.2(TNFRSF13B): c.515G> A (p.Cys172Tyr) single nucleotide variant Uncertain significance rs751216929 17:16843756-16843756 17:16940442-16940442
22 TNFRSF13B NM_012452.2(TNFRSF13B): c.566G> T (p.Arg189Met) single nucleotide variant Uncertain significance rs199777698 17:16843705-16843705 17:16940391-16940391
23 TNFRSF13B NM_012452.2(TNFRSF13B): c.716C> T (p.Ala239Val) single nucleotide variant Uncertain significance rs375891337 17:16843027-16843027 17:16939713-16939713
24 TNFRSF13B NM_012452.2(TNFRSF13B): c.754G> A (p.Asp252Asn) single nucleotide variant Uncertain significance rs111439115 17:16842989-16842989 17:16939675-16939675
25 TNFRSF13B NM_012452.2(TNFRSF13B): c.641T> C (p.Met214Thr) single nucleotide variant Uncertain significance rs144560464 17:16843102-16843102 17:16939788-16939788
26 TNFRSF13B NM_012452.2(TNFRSF13B): c.290C> G (p.Pro97Arg) single nucleotide variant Uncertain significance rs754139414 17:16852207-16852207 17:16948893-16948893
27 TNFRSF13B NM_012452.2(TNFRSF13B): c.452C> T (p.Pro151Leu) single nucleotide variant Uncertain significance rs200037919 17:16843819-16843819 17:16940505-16940505
28 TNFRSF13B NM_012452.2(TNFRSF13B): c.532T> C (p.Phe178Leu) single nucleotide variant Uncertain significance rs764319738 17:16843739-16843739 17:16940425-16940425
29 TNFRSF13B NM_012452.2(TNFRSF13B): c.592C> T (p.Arg198Cys) single nucleotide variant Uncertain significance rs140781824 17:16843679-16843679 17:16940365-16940365
30 TNFRSF13B NM_012452.2(TNFRSF13B): c.453G> C (p.Pro151=) single nucleotide variant Uncertain significance rs768819413 17:16843818-16843818 17:16940504-16940504
31 TNFRSF13B NM_012452.2(TNFRSF13B): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance 17:16852133-16852133 17:16948819-16948819
32 TNFRSF13B NM_012452.2(TNFRSF13B): c.604C> T (p.Arg202Cys) single nucleotide variant Uncertain significance rs143562358 17:16843667-16843667 17:16940353-16940353
33 TNFRSF13B NM_012452.2(TNFRSF13B): c.631+8C> T single nucleotide variant Uncertain significance 17:16843632-16843632 17:16940318-16940318
34 TNFRSF13B NM_012452.2(TNFRSF13B): c.568G> A (p.Gly190Arg) single nucleotide variant Uncertain significance 17:16843703-16843703 17:16940389-16940389
35 TNFRSF13B NM_012452.2(TNFRSF13B): c.58C> T (p.Arg20Cys) single nucleotide variant Uncertain significance 17:16875332-16875332 17:16972018-16972018
36 TNFRSF13B NM_012452.2(TNFRSF13B): c.740C> T (p.Thr247Met) single nucleotide variant Uncertain significance 17:16843003-16843003 17:16939689-16939689
37 TNFRSF13B NM_012452.2(TNFRSF13B): c.76T> C (p.Trp26Arg) single nucleotide variant Uncertain significance 17:16855883-16855883 17:16952569-16952569
38 TNFRSF13B NM_012452.2(TNFRSF13B): c.838G> C (p.Gly280Arg) single nucleotide variant Uncertain significance 17:16842905-16842905 17:16939591-16939591
39 TNFRSF13B NM_012452.2(TNFRSF13B): c.145T> C (p.Ser49Pro) single nucleotide variant Uncertain significance 17:16855814-16855814 17:16952500-16952500
40 TNFRSF13B NM_012452.2(TNFRSF13B): c.178C> T (p.Arg60Cys) single nucleotide variant Uncertain significance 17:16855781-16855781 17:16952467-16952467
41 TNFRSF13B NM_012452.2(TNFRSF13B): c.227G> A (p.Gly76Asp) single nucleotide variant Uncertain significance 17:16852270-16852270 17:16948956-16948956
42 TNFRSF13B NM_012452.2(TNFRSF13B): c.346C> A (p.Pro116Thr) single nucleotide variant Uncertain significance 17:16852151-16852151 17:16948837-16948837
43 TNFRSF13B NM_012452.2(TNFRSF13B): c.468T> G (p.Ser156Arg) single nucleotide variant Uncertain significance 17:16843803-16843803 17:16940489-16940489
44 TNFRSF13B NM_012452.2(TNFRSF13B): c.543G> A (p.Ala181=) single nucleotide variant Uncertain significance 17:16843728-16843728 17:16940414-16940414
45 TNFRSF13B NM_012452.2(TNFRSF13B): c.567G> C (p.Arg189Ser) single nucleotide variant Uncertain significance 17:16843704-16843704 17:16940390-16940390
46 TNFRSF13B NM_012452.2(TNFRSF13B): c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp) indel Uncertain significance 17:16843703-16843704 17:16940389-16940390
47 TNFRSF13B NM_012452.2(TNFRSF13B): c.17G> A (p.Arg6Gln) single nucleotide variant Uncertain significance rs747078163 17:16875373-16875373 17:16972059-16972059
48 TNFRSF13B NM_012452.2(TNFRSF13B): c.706G> T (p.Glu236Ter) single nucleotide variant Uncertain significance rs201021960 17:16843037-16843037 17:16939723-16939723
49 TNFRSF13B NM_012452.2(TNFRSF13B): c.828C> G (p.Asp276Glu) single nucleotide variant Uncertain significance rs144383122 17:16842915-16842915 17:16939601-16939601
50 TNFRSF13B NM_012452.2(TNFRSF13B): c.21C> T (p.Ser7=) single nucleotide variant Uncertain significance 17:16875369-16875369 17:16972055-16972055

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Common Variable, 2:

74
# Symbol AA change Variation ID SNP ID
1 TNFRSF13B p.Cys104Arg VAR_024027 rs34557412
2 TNFRSF13B p.Ala181Gly VAR_024028
3 TNFRSF13B p.Arg202His VAR_024029 rs104894649

Expression for Immunodeficiency, Common Variable, 2

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 2.

Pathways for Immunodeficiency, Common Variable, 2

GO Terms for Immunodeficiency, Common Variable, 2

Cellular components related to Immunodeficiency, Common Variable, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.55 TNFRSF13C TNFRSF13B ICOS CR2 CD19
2 plasma membrane GO:0005886 9.35 TNFRSF13C TNFRSF13B ICOS CR2 CD19
3 external side of plasma membrane GO:0009897 8.8 TNFRSF13C ICOS CD19

Biological processes related to Immunodeficiency, Common Variable, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.43 TNFRSF13C TNFRSF13B CR2
2 positive regulation of protein kinase B signaling GO:0051897 9.37 ICOS CD19
3 regulation of complement activation GO:0030449 9.32 CR2 CD19
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.16 TNFRSF13C TNFRSF13B
5 T cell costimulation GO:0031295 8.96 TNFRSF13C ICOS
6 B cell homeostasis GO:0001782 8.62 TNFRSF13C TNFRSF13B

Sources for Immunodeficiency, Common Variable, 2

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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