Immunodeficiency, Common Variable, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CVID2 MCID: IMM034 MIFTS: 40	Immunodeficiency, Common Variable, 2 (CVID2) Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency, Common Variable, 2

MalaCards integrated aliases for Immunodeficiency, Common Variable, 2:

Name: Immunodeficiency, Common Variable, 2 ⁵⁷ ⁷³ ¹³ ⁷¹

Hypogammaglobulinemia Due to Taci Deficiency ⁵⁷ ⁷³

Antibody Deficiency Due to Taci Defect ⁵⁷ ⁷³

Common Variable Immunodeficiency 2 ²⁹ ⁶

Cvid2 ⁵⁷ ⁷³

Immunodeficiency, Variable, Common, Type 2 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 240500

OMIM Phenotypic Series ⁵⁷ PS607594

MeSH ⁴⁴ D017074

MedGen ⁴¹ C3150354

UMLS ⁷¹ C3150354

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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 and t cells, and related phenotypes are splenomegaly and hepatomegaly

More information from OMIM: 240500 PS607594

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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 39)

#	Related Disease	Score	Top Affiliating Genes
1	common variable immunodeficiency	28.4	TNFRSF13C TNFRSF13B ICOS CR2 CD19
2	primary agammaglobulinemia	10.0	TNFRSF13C TNFRSF13B
3	granulomatous hepatitis	10.0	TNFRSF13B CR2
4	transient hypogammaglobulinemia	10.0	TNFRSF13B CD19
5	cryptococcal meningitis	10.0	TNFRSF13C TNFRSF13B
6	lymphoproliferative syndrome 2	10.0	TNFRSF13B CR2
7	sarcoidosis 1	10.0
8	immune deficiency disease	10.0
9	wiskott-aldrich syndrome	10.0
10	thrombocytopenia	10.0
11	chronic granulomatous disease	10.0
12	good syndrome	9.9	TNFRSF13B CD19
13	thrombocytopenia due to platelet alloimmunization	9.9	TNFRSF13B CD19
14	macroglobulinemia	9.9	TNFRSF13C TNFRSF13B
15	lobomycosis	9.9	CR2 CD19
16	mulchandani-bhoj-conlin syndrome	9.9	CR2 CD19
17	splenic disease	9.9	CR2 CD19
18	autoimmune disease of exocrine system	9.9	TNFRSF13C CD19
19	immunodeficiency, common variable, 1	9.9	TNFRSF13B ICOS
20	marginal zone b-cell lymphoma	9.8	CR2 CD19
21	prolymphocytic leukemia	9.8	CR2 CD19
22	trichohepatoenteric syndrome 1	9.8	TNFRSF13B CD19
23	mature b-cell neoplasm	9.8	CR2 CD19
24	agammaglobulinemia	9.7	TNFRSF13B CR2 CD19
25	selective igg deficiency disease	9.7	TNFRSF13C TNFRSF13B CD19
26	immunoglobulin alpha deficiency	9.7	TNFRSF13C TNFRSF13B CD19
27	immunodeficiency with hyper-igm, type 1	9.7	TNFRSF13C TNFRSF13B CD19
28	pfeiffer syndrome	9.7	CR2 CD19
29	autoimmune disease	9.7	TNFRSF13C TNFRSF13B CR2
30	lymphoma, mucosa-associated lymphoid type	9.6	TNFRSF13C CR2 CD19
31	follicular lymphoma	9.6	TNFRSF13C CR2
32	b-cell lymphoma	9.6	TNFRSF13C CR2 CD19
33	transient hypogammaglobulinemia of infancy	9.4	TNFRSF13C TNFRSF13B CR2 CD19
34	b cell deficiency	9.4	TNFRSF13C TNFRSF13B CR2 CD19
35	agammaglobulinemia, x-linked	9.4	TNFRSF13C TNFRSF13B CR2 CD19
36	potocki-shaffer syndrome	9.4	TNFRSF13C TNFRSF13B CR2 CD19
37	lymphoma, non-hodgkin, familial	9.4	TNFRSF13C TNFRSF13B CR2 CD19
38	leukemia, chronic lymphocytic	9.4	TNFRSF13C TNFRSF13B CR2 CD19
39	systemic lupus erythematosus	9.0	TNFRSF13C TNFRSF13B ICOS CR2 CD19

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

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Symptoms & Phenotypes for Immunodeficiency, Common Variable, 2

Human phenotypes related to Immunodeficiency, Common Variable, 2:

³¹ (show all 20)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Spleen:
splenomegaly

Neoplasia:
lymphoma

Neurologic Central Nervous System:
meningitis

Immunology:
lymphadenopathy
recurrent bacterial infections
autoimmune disorders
hypogammaglobulinemia
defective antibody production
more

Head And Neck Head:
sinusitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

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 (Updated 05-Mar-2021)

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	9.35	CD19 CR2 ICOS TNFRSF13B TNFRSF13C
2	immune system	MP:0005387	9.02	CD19 CR2 ICOS TNFRSF13B TNFRSF13C

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Drugs & Therapeutics for Immunodeficiency, Common Variable, 2

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

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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

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Anatomical Context for Immunodeficiency, Common Variable, 2

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

⁴⁰

B Cells, T Cells

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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. ⁵⁷ ⁶	Castigli E...Geha RS	16007086	2005
2	Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. ⁵⁷ ⁶	Salzer U...Grimbacher B	16007087	2005
3	The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. ⁶	Lee JJ...Geha RS	19605846	2009
4	Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. ⁵⁷	Salzer U...Grimbacher B	18981294	2009
5	Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). ⁶	Garibyan L...Geha RS	17492055	2007
6	Unraveling TACIt functions. ⁵⁷	Martin F...Dixit VM	16049503	2005
7	Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical cases. ⁶¹	Pacheco C...Cunha J	24462347	2014
8	Current spectrum of malabsorption syndrome in adults in India. ⁶¹	Yadav P...Makharia GK	21369836	2011
9	Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. ⁶¹	Kim JH...Park HS	20514300	2010

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Genes for Immunodeficiency, Common Variable, 2

Genes related to Immunodeficiency, Common Variable, 2 (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	1342	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	16007087
2	CR2	Complement C3d Receptor 2	Protein Coding	125	Genetic Tests ²⁹ Likely pathogenic ⁶
3	CD19	CD19 Molecule	Protein Coding	100	Genetic Tests ²⁹
4	ICOS	Inducible T Cell Costimulator	Protein Coding	100	Genetic Tests ²⁹
5	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	100	Genetic Tests ²⁹

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Variations for Immunodeficiency, Common Variable, 2

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

⁶ (show top 50) (show all 105)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TNFRSF13B	NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)	SNV	Likely pathogenic, risk factor	5302	rs34557412	17:16852187-16852187	17:16948873-16948873
2	TNFRSF13B	NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter)	SNV	Pathogenic	203368	rs72553882	17:16843779-16843779	17:16940465-16940465
3	TNFRSF13B	NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)	SNV	Pathogenic	840923		17:16855761-16855761	17:16952447-16952447
4	TNFRSF13B	TNFRSF13B, 1-BP INS, 204A	Insertion	Pathogenic	5305
5	TNFRSF13B	NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter)	SNV	Pathogenic	657318	rs72553885	17:16843692-16843692	17:16940378-16940378
6	TNFRSF13B	NM_012452.3(TNFRSF13B):c.62-1G>A	SNV	Pathogenic	853184		17:16855898-16855898	17:16952584-16952584
7	TNFRSF13B	NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)	Indel	Pathogenic	5306	rs121908379	17:16843689-16843690	17:16940375-16940376
8	TNFRSF13B	NM_012452.2(TNFRSF13B):c.61+1G>T	SNV	Pathogenic	647267	rs1016142312	17:16875328-16875328	17:16972014-16972014
9	TNFRSF13B	NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs)	Deletion	Pathogenic	538707	rs1555550717	17:16875341-16875341	17:16972027-16972027
10	TNFRSF13B	NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter)	SNV	Pathogenic	5307	rs104894650	17:16852066-16852066	17:16948752-16948752
11	TNFRSF13B	NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs)	Duplication	Pathogenic	582925	rs769165409	17:16843698-16843699	17:16940384-16940385
12	TNFRSF13B	NM_012452.3(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs)	Microsatellite	Pathogenic	657940	rs1265262160	17:16852266-16852270	17:16948952-16948956
13	TNFRSF13B	NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter)	SNV	Pathogenic	265340	rs104894650	17:16852066-16852066	17:16948752-16948752
14	TNFRSF13B	NM_012452.2(TNFRSF13B):c.95_96dupGA	Microsatellite	Pathogenic	647108	rs1303637368	17:16855862-16855863	17:16952548-16952549
15	TNFRSF13B	NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs)	Duplication	Pathogenic/Likely pathogenic	322029	rs72553875	17:16852292-16852293	17:16948978-16948979
16	TNFRSF13B	NM_012452.3(TNFRSF13B):c.61+2T>A	SNV	Likely pathogenic	942527		17:16875327-16875327	17:16972013-16972013
17	TNFRSF13B	NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr)	SNV	Likely pathogenic	645207	rs72553879	17:16852186-16852186	17:16948872-16948872
18	TNFRSF13B	NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn)	SNV	Likely pathogenic	618436	rs72553877	17:16852237-16852237	17:16948923-16948923
19	CR2	NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)	SNV	Likely pathogenic	930314		1:207648179-207648179	1:207474834-207474834
20	TNFRSF13B	NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu)	SNV	Likely pathogenic	5303	rs72553883	17:16843729-16843729	17:16940415-16940415
21	TNFRSF13B	NM_012452.2(TNFRSF13B):c.566G>T (p.Arg189Met)	SNV	Uncertain significance	471369	rs199777698	17:16843705-16843705	17:16940391-16940391
22	TNFRSF13B	NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys)	SNV	Uncertain significance	281110	rs72553876	17:16852261-16852261	17:16948947-16948947
23	TNFRSF13B	NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg)	SNV	Uncertain significance	440340	rs143027621	17:16843759-16843759	17:16940445-16940445
24	TNFRSF13B	NM_012452.2(TNFRSF13B):c.604C>T (p.Arg202Cys)	SNV	Uncertain significance	618435	rs143562358	17:16843667-16843667	17:16940353-16940353
25	TNFRSF13B	NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs)	Deletion	Uncertain significance	973680		17:16852141-16852147	17:16948827-16948833
26	TNFRSF13B	NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro)	SNV	Uncertain significance	626190	rs374547688	17:16855814-16855814	17:16952500-16952500
27	TNFRSF13B	NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys)	SNV	Uncertain significance	577672	rs200013015	17:16875332-16875332	17:16972018-16972018
28	TNFRSF13B	NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro)	SNV	Uncertain significance	626190	rs374547688	17:16855814-16855814	17:16952500-16952500
29	TNFRSF13C	NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln)	SNV	Uncertain significance	341877	rs150374940	22:42322155-42322155	22:41926151-41926151
30	TNFRSF13B	NM_012452.2(TNFRSF13B):c.41G>A (p.Arg14His)	SNV	Uncertain significance	618434	rs200309474	17:16875349-16875349	17:16972035-16972035
31	TNFRSF13B	NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg)	SNV	Uncertain significance	803326	rs72553874	17:16855841-16855841	17:16952527-16952527
32	TNFRSF13B	NM_012452.2(TNFRSF13B):c.823C>T (p.Pro275Ser)	SNV	Uncertain significance	640348	rs540918755	17:16842920-16842920	17:16939606-16939606
33	TNFRSF13B	NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val)	SNV	Uncertain significance	641380	rs886052652	17:16842886-16842886	17:16939572-16939572
34	TNFRSF13B	NM_012452.2(TNFRSF13B):c.227G>A (p.Gly76Asp)	SNV	Uncertain significance	641589	rs772701872	17:16852270-16852270	17:16948956-16948956
35	TNFRSF13B	NM_012452.2(TNFRSF13B):c.543G>A (p.Ala181=)	SNV	Uncertain significance	641717	rs746018705	17:16843728-16843728	17:16940414-16940414
36	TNFRSF13B	NM_012452.2(TNFRSF13B):c.346C>A (p.Pro116Thr)	SNV	Uncertain significance	643189	rs757399024	17:16852151-16852151	17:16948837-16948837
37	TNFRSF13B	NM_012452.2(TNFRSF13B):c.21C>T (p.Ser7=)	SNV	Uncertain significance	657354	rs780461208	17:16875369-16875369	17:16972055-16972055
38	TNFRSF13B	NM_012452.2(TNFRSF13B):c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp)	Indel	Uncertain significance	660587	rs1597656815	17:16843703-16843704	17:16940389-16940390
39	TNFRSF13B	NM_012452.2(TNFRSF13B):c.722C>T (p.Thr241Met)	SNV	Uncertain significance	660768	rs370250196	17:16843021-16843021	17:16939707-16939707
40	TNFRSF13B	NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=)	SNV	Uncertain significance	221902	rs768819413	17:16843818-16843818	17:16940504-16940504
41	TNFRSF13B	NM_012452.2(TNFRSF13B):c.567G>C (p.Arg189Ser)	SNV	Uncertain significance	661773	rs370856157	17:16843704-16843704	17:16940390-16940390
42	TNFRSF13B	NM_012452.2(TNFRSF13B):c.638C>T (p.Ala213Val)	SNV	Uncertain significance	661816	rs763164041	17:16843105-16843105	17:16939791-16939791
43	TNFRSF13B	NM_012452.2(TNFRSF13B):c.178C>T (p.Arg60Cys)	SNV	Uncertain significance	664687	rs777555444	17:16855781-16855781	17:16952467-16952467
44	TNFRSF13B	NM_012452.2(TNFRSF13B):c.86_88del	Deletion	Uncertain significance	36880	rs150068036	17:16842773-16842775	17:16939459-16939461
45	TNFRSF13B	NM_012452.2(TNFRSF13B):c.716C>T (p.Ala239Val)	SNV	Uncertain significance	471370	rs375891337	17:16843027-16843027	17:16939713-16939713
46	TNFRSF13B	NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter)	SNV	Uncertain significance	538709	rs201021960	17:16843037-16843037	17:16939723-16939723
47	TNFRSF13B	NM_012452.2(TNFRSF13B):c.828C>G (p.Asp276Glu)	SNV	Uncertain significance	538710	rs144383122	17:16842915-16842915	17:16939601-16939601
48	TNFRSF13B	NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys)	SNV	Uncertain significance	322026	rs140781824	17:16843679-16843679	17:16940365-16940365
49	TNFRSF13B	NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met)	SNV	Uncertain significance	568673	rs149635611	17:16843003-16843003	17:16939689-16939689
50	TNFRSF13B	NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg)	SNV	Uncertain significance	576346	rs773591883	17:16855883-16855883	17:16952569-16952569

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

Sources

Expression for Immunodeficiency, Common Variable, 2

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

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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	Allograft rejection ³⁶ ¹ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.17	TNFRSF13C TNFRSF13B ICOS
2	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	11.73	TNFRSF13C TNFRSF13B CR2
3	Hematopoietic cell lineage ³⁶	11.36	CR2 CD19
4	TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions ⁶⁴ Show member pathways TNFs bind their physiological receptors ⁶⁵	11.24	TNFRSF13C TNFRSF13B
5	IgA-Producing B Cells in the Intestine ⁶⁴	11.08	TNFRSF13C TNFRSF13B ICOS CR2
6	Primary immunodeficiency ³⁶	10.5	TNFRSF13C TNFRSF13B ICOS CD19

Sources

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	9.35	TNFRSF13C TNFRSF13B ICOS CR2 CD19
2	plasma membrane	GO:0005886	9.02	TNFRSF13C TNFRSF13B ICOS CR2 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	adaptive immune response	GO:0002250	9.33	TNFRSF13C TNFRSF13B CD19
3	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.32	TNFRSF13C TNFRSF13B
4	regulation of complement activation	GO:0030449	9.26	CR2 CD19
5	T cell costimulation	GO:0031295	8.96	TNFRSF13C ICOS
6	immune system process	GO:0002376	8.92	TNFRSF13C TNFRSF13B CR2 CD19

Sources

Sources for Immunodeficiency, Common Variable, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

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⁷⁴ Wikipedia

Immunodeficiency, Common Variable, 2 (CVID2)

Aliases & Classifications for Immunodeficiency, Common Variable, 2

MalaCards integrated aliases for Immunodeficiency, Common Variable, 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency, Common Variable, 2

Related Diseases for Immunodeficiency, Common Variable, 2

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

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

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 2

Human phenotypes related to Immunodeficiency, Common Variable, 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Immunodeficiency, Common Variable, 2:

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

Drugs & Therapeutics for Immunodeficiency, Common Variable, 2

Genetic Tests for Immunodeficiency, Common Variable, 2

Genetic tests related to Immunodeficiency, Common Variable, 2:

Anatomical Context for Immunodeficiency, Common Variable, 2

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

Publications for Immunodeficiency, Common Variable, 2

Articles related to Immunodeficiency, Common Variable, 2:

Genes for Immunodeficiency, Common Variable, 2

Genes related to Immunodeficiency, Common Variable, 2 (5 elite genes):

Variations for Immunodeficiency, Common Variable, 2

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

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

Expression for Immunodeficiency, Common Variable, 2

Pathways for Immunodeficiency, Common Variable, 2

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

GO Terms for Immunodeficiency, Common Variable, 2

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

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

Sources for Immunodeficiency, Common Variable, 2