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 56 73 13 71
Hypogammaglobulinemia Due to Taci Deficiency 56 73
Antibody Deficiency Due to Taci Defect 56 73
Common Variable Immunodeficiency 2 29 6
Cvid2 56 73
Immunodeficiency, Variable, Common, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in first or second decades


HPO:

31
immunodeficiency, common variable, 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 2

UniProtKB/Swiss-Prot : 73 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 common variable immunodeficiency and primary agammaglobulinemia, 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

Diseases related to Immunodeficiency, Common Variable, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 common variable immunodeficiency 27.6 TNFRSF13C TNFRSF13B ICOS CR2 CD19
2 primary agammaglobulinemia 10.0 TNFRSF13C TNFRSF13B
3 good syndrome 10.0 TNFRSF13B CD19
4 thrombocytopenia due to platelet alloimmunization 10.0 TNFRSF13B CD19
5 cryptococcal meningitis 10.0 TNFRSF13C TNFRSF13B
6 macroglobulinemia 9.9 TNFRSF13C TNFRSF13B
7 agammaglobulinemia 9.9 CR2 CD19
8 lobomycosis 9.9 CR2 CD19
9 immunoglobulin a deficiency 1 9.8
10 sarcoidosis 1 9.8
11 immune deficiency disease 9.8
12 wiskott-aldrich syndrome 9.8
13 thrombocytopenia 9.8
14 chronic granulomatous disease 9.8
15 marginal zone b-cell lymphoma 9.8 CR2 CD19
16 prolymphocytic leukemia 9.8 CR2 CD19
17 lymphatic system cancer 9.7 CR2 CD19
18 mature b-cell neoplasm 9.7 CR2 CD19
19 immunoglobulin alpha deficiency 9.6 TNFRSF13C TNFRSF13B CD19
20 lymphatic system disease 9.6 CR2 CD19
21 cd40 ligand deficiency 9.6 TNFRSF13C TNFRSF13B CD19
22 transient hypogammaglobulinemia of infancy 9.6 TNFRSF13B CR2 CD19
23 pfeiffer syndrome 9.5 CR2 CD19
24 myeloma, multiple 9.5 TNFRSF13C TNFRSF13B CD19
25 lymphoma, mucosa-associated lymphoid type 9.5 TNFRSF13C CR2 CD19
26 b-cell lymphoma 9.4 TNFRSF13C CR2 CD19
27 follicular lymphoma 9.4 TNFRSF13C CR2
28 autoimmune disease 9.4 TNFRSF13C TNFRSF13B CR2
29 b cell deficiency 9.2 TNFRSF13C TNFRSF13B CR2 CD19
30 lymphoma, non-hodgkin, familial 9.1 TNFRSF13C TNFRSF13B CR2 CD19
31 leukemia, chronic lymphocytic 9.1 TNFRSF13C TNFRSF13B CR2 CD19
32 systemic lupus erythematosus 8.5 TNFRSF13C TNFRSF13B ICOS CR2 CD19

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 immunodeficiency 31 HP:0002721
4 neoplasm 31 HP:0002664
5 autoimmunity 31 HP:0002960
6 recurrent otitis media 31 HP:0000403
7 impaired t cell function 31 HP:0005435
8 lymphoma 31 HP:0002665
9 diarrhea 31 HP:0002014
10 conjunctivitis 31 HP:0000509
11 meningitis 31 HP:0001287
12 recurrent pneumonia 31 HP:0006532
13 recurrent bacterial infections 31 HP:0002718
14 decreased circulating iga level 31 HP:0002720
15 decreased circulating igg level 31 HP:0004315
16 bronchiectasis 31 HP:0002110
17 decreased circulating total igm 31 HP:0002850
18 recurrent bronchitis 31 HP:0002837
19 follicular hyperplasia 31 HP:0002729
20 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
2 homeostasis/metabolism MP:0005376 9.35 CD19 CR2 ICOS TNFRSF13B TNFRSF13C
3 immune system MP:0005387 9.02 CD19 CR2 ICOS TNFRSF13B TNFRSF13C

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:

40
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. 56 6
16007086 2005
2
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. 56 6
16007087 2005
3
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 6
19605846 2009
4
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. 56
18981294 2009
5
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). 6
17492055 2007
6
TACI mutation in common variable immunodeficiency and IgA deficiency. 6
16899196 2006
7
Unraveling TACIt functions. 56
16049503 2005
8
Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical cases. 61
24462347 2014
9
Current spectrum of malabsorption syndrome in adults in India. 61
21369836 2011
10
Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. 61
20514300 2010

Variations for Immunodeficiency, Common Variable, 2

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

6 (show top 50) (show all 62) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF13B NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter)SNV Pathogenic 203368 rs72553882 17:16843779-16843779 17:16940465-16940465
2 TNFRSF13B TNFRSF13B, 1-BP INS, 204Ainsertion Pathogenic 5305
3 TNFRSF13B NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)indel Pathogenic 5306 rs121908379 17:16843689-16843690 17:16940375-16940376
4 TNFRSF13B NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter)SNV Pathogenic 5307 rs104894650 17:16852066-16852066 17:16948752-16948752
5 TNFRSF13B NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter)SNV Pathogenic 265340 rs104894650 17:16852066-16852066 17:16948752-16948752
6 TNFRSF13B NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs)deletion Pathogenic 538707 rs1555550717 17:16875341-16875341 17:16972027-16972027
7 TNFRSF13B NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs)duplication Pathogenic 582925 rs769165409 17:16843698-16843699 17:16940384-16940385
8 TNFRSF13B NM_012452.2(TNFRSF13B):c.227_231delGCAAGshort repeat Pathogenic 657940 17:16852266-16852270 17:16948952-16948956
9 TNFRSF13B NM_012452.2(TNFRSF13B):c.95_96dupGAshort repeat Pathogenic 647108 17:16855862-16855863 17:16952548-16952549
10 TNFRSF13B NM_012452.2(TNFRSF13B):c.61+1G>TSNV Pathogenic 647267 17:16875328-16875328 17:16972014-16972014
11 TNFRSF13B NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr)SNV Likely pathogenic 645207 17:16852186-16852186 17:16948872-16948872
12 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)SNV risk factor 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
13 TNFRSF13B NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu)SNV Conflicting interpretations of pathogenicity 5303 rs72553883 17:16843729-16843729 17:16940415-16940415
14 TNFRSF13B NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His)SNV Conflicting interpretations of pathogenicity 5304 rs104894649 17:16843666-16843666 17:16940352-16940352
15 TNFRSF13B NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys)SNV Conflicting interpretations of pathogenicity 281110 rs72553876 17:16852261-16852261 17:16948947-16948947
16 TNFRSF13B NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg)SNV Conflicting interpretations of pathogenicity 440340 rs143027621 17:16843759-16843759 17:16940445-16940445
17 TNFRSF13B NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs)duplication Conflicting interpretations of pathogenicity 322029 rs72553875 17:16852292-16852293 17:16948978-16948979
18 TNFRSF13B NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn)SNV Conflicting interpretations of pathogenicity 618436 rs72553877 17:16852237-16852237 17:16948923-16948923
19 TNFRSF13B NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter)SNV Conflicting interpretations of pathogenicity 657318 17:16843692-16843692 17:16940378-16940378
20 TNFRSF13B NM_012452.2(TNFRSF13B):c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp)indel Uncertain significance 660587 17:16843703-16843704 17:16940389-16940390
21 TNFRSF13B NM_012452.2(TNFRSF13B):c.567G>C (p.Arg189Ser)SNV Uncertain significance 661773 17:16843704-16843704 17:16940390-16940390
22 TNFRSF13B NM_012452.2(TNFRSF13B):c.543G>A (p.Ala181=)SNV Uncertain significance 641717 17:16843728-16843728 17:16940414-16940414
23 TNFRSF13B NM_012452.2(TNFRSF13B):c.468T>G (p.Ser156Arg)SNV Uncertain significance 664357 17:16843803-16843803 17:16940489-16940489
24 TNFRSF13B NM_012452.2(TNFRSF13B):c.346C>A (p.Pro116Thr)SNV Uncertain significance 643189 17:16852151-16852151 17:16948837-16948837
25 TNFRSF13B NM_012452.2(TNFRSF13B):c.227G>A (p.Gly76Asp)SNV Uncertain significance 641589 17:16852270-16852270 17:16948956-16948956
26 TNFRSF13B NM_012452.2(TNFRSF13B):c.178C>T (p.Arg60Cys)SNV Uncertain significance 664687 17:16855781-16855781 17:16952467-16952467
27 TNFRSF13B NM_012452.2(TNFRSF13B):c.364C>T (p.Arg122Trp)SNV Uncertain significance 577737 rs201124889 17:16852133-16852133 17:16948819-16948819
28 TNFRSF13B NM_012452.2(TNFRSF13B):c.604C>T (p.Arg202Cys)SNV Uncertain significance 618435 rs143562358 17:16843667-16843667 17:16940353-16940353
29 TNFRSF13B NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg)SNV Uncertain significance 803326 17:16855841-16855841 17:16952527-16952527
30 TNFRSF13B NM_012452.2(TNFRSF13B):c.21C>T (p.Ser7=)SNV Uncertain significance 657354 17:16875369-16875369 17:16972055-16972055
31 TNFRSF13B NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro)SNV Uncertain significance 626190 rs374547688 17:16855814-16855814 17:16952500-16952500
32 TNFRSF13B NM_012452.2(TNFRSF13B):c.823C>T (p.Pro275Ser)SNV Uncertain significance 640348 17:16842920-16842920 17:16939606-16939606
33 TNFRSF13B NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val)SNV Uncertain significance 641380 17:16842886-16842886 17:16939572-16939572
34 TNFRSF13B NM_012452.2(TNFRSF13B):c.776G>A (p.Trp259Ter)SNV Uncertain significance 653420 17:16842967-16842967 17:16939653-16939653
35 TNFRSF13B NM_012452.2(TNFRSF13B):c.722C>T (p.Thr241Met)SNV Uncertain significance 660768 17:16843021-16843021 17:16939707-16939707
36 TNFRSF13B NM_012452.2(TNFRSF13B):c.638C>T (p.Ala213Val)SNV Uncertain significance 661816 17:16843105-16843105 17:16939791-16939791
37 TNFRSF13B NM_012452.2(TNFRSF13B):c.797C>T (p.Thr266Ile)SNV Uncertain significance 322024 rs752825527 17:16842946-16842946 17:16939632-16939632
38 TNFRSF13B NM_012452.2(TNFRSF13B):c.532T>C (p.Phe178Leu)SNV Uncertain significance 538712 rs764319738 17:16843739-16843739 17:16940425-16940425
39 TNFRSF13B NM_012452.2(TNFRSF13B):c.828C>G (p.Asp276Glu)SNV Uncertain significance 538710 rs144383122 17:16842915-16842915 17:16939601-16939601
40 TNFRSF13B NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter)SNV Uncertain significance 538709 rs201021960 17:16843037-16843037 17:16939723-16939723
41 TNFRSF13B NM_012452.2(TNFRSF13B):c.17G>A (p.Arg6Gln)SNV Uncertain significance 538713 rs747078163 17:16875373-16875373 17:16972059-16972059
42 TNFRSF13B NM_012452.2(TNFRSF13B):c.290C>G (p.Pro97Arg)SNV Uncertain significance 538711 rs754139414 17:16852207-16852207 17:16948893-16948893
43 TNFRSF13B NM_012452.2(TNFRSF13B):c.452C>T (p.Pro151Leu)SNV Uncertain significance 546790 rs200037919 17:16843819-16843819 17:16940505-16940505
44 TNFRSF13B NM_012452.2(TNFRSF13B):c.631+8C>TSNV Uncertain significance 576964 rs1210149250 17:16843632-16843632 17:16940318-16940318
45 TNFRSF13B NM_012452.2(TNFRSF13B):c.568G>A (p.Gly190Arg)SNV Uncertain significance 579029 rs150101848 17:16843703-16843703 17:16940389-16940389
46 TNFRSF13B NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys)SNV Uncertain significance 577672 rs200013015 17:16875332-16875332 17:16972018-16972018
47 TNFRSF13B NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met)SNV Uncertain significance 568673 rs149635611 17:16843003-16843003 17:16939689-16939689
48 TNFRSF13B NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg)SNV Uncertain significance 576346 rs773591883 17:16855883-16855883 17:16952569-16952569
49 TNFRSF13B NM_012452.2(TNFRSF13B):c.838G>C (p.Gly280Arg)SNV Uncertain significance 582908 rs374957601 17:16842905-16842905 17:16939591-16939591
50 TNFRSF13B NM_012452.2(TNFRSF13B):c.577T>C (p.Cys193Arg)SNV Uncertain significance 449227 rs764125338 17:16843694-16843694 17:16940380-16940380

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 TNFRSF13C TNFRSF13B ICOS
2
Show member pathways
11.73 TNFRSF13C TNFRSF13B CR2
3 11.32 CR2 CD19
4 10.98 TNFRSF13B ICOS CR2 CD19
5 10.5 TNFRSF13C TNFRSF13B ICOS CD19

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 positive regulation of protein kinase B signaling GO:0051897 9.37 ICOS CD19
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.32 TNFRSF13C TNFRSF13B
3 regulation of complement activation GO:0030449 9.26 CR2 CD19
4 T cell costimulation GO:0031295 9.16 TNFRSF13C ICOS
5 adaptive immune response GO:0002250 9.13 TNFRSF13C TNFRSF13B CD19
6 immune system process GO:0002376 8.92 TNFRSF13C TNFRSF13B CR2 CD19

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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