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

CVID2 MCID: IMM034 MIFTS: 41	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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 240500

OMIM Phenotypic Series ⁵⁶ PS607594

MeSH ⁴³ 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 transient hypogammaglobulinemia, 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

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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 38)

#	Related Disease	Score	Top Affiliating Genes
1	common variable immunodeficiency	27.6	TNFRSF13C TNFRSF13B ICOS CR2 CD19
2	transient hypogammaglobulinemia	10.0	TNFRSF13B CD19
3	primary agammaglobulinemia	10.0	TNFRSF13C TNFRSF13B
4	selective igg deficiency disease	10.0	TNFRSF13C TNFRSF13B
5	good syndrome	10.0	TNFRSF13B CD19
6	thrombocytopenia due to platelet alloimmunization	10.0	TNFRSF13B CD19
7	cryptococcal meningitis	10.0	TNFRSF13C TNFRSF13B
8	anemia, autoimmune hemolytic	10.0	TNFRSF13B CD19
9	cd40 ligand deficiency	10.0	TNFRSF13B CD19
10	immunodeficiency with hyper-igm, type 1	9.9	TNFRSF13B CD19
11	agammaglobulinemia	9.9	CR2 CD19
12	autoimmune disease of exocrine system	9.9	TNFRSF13C CD19
13	macroglobulinemia	9.9	TNFRSF13C TNFRSF13B
14	lobomycosis	9.9	CR2 CD19
15	mulchandani-bhoj-conlin syndrome	9.9	CR2 CD19
16	sarcoidosis 1	9.8
17	immune deficiency disease	9.8
18	wiskott-aldrich syndrome	9.8
19	thrombocytopenia	9.8
20	chronic granulomatous disease	9.8
21	trichohepatoenteric syndrome 1	9.8	TNFRSF13B CD19
22	splenic disease	9.8	CR2 CD19
23	marginal zone b-cell lymphoma	9.7	CR2 CD19
24	prolymphocytic leukemia	9.7	CR2 CD19
25	transient hypogammaglobulinemia of infancy	9.6	TNFRSF13C TNFRSF13B CD19
26	immunoglobulin alpha deficiency	9.6	TNFRSF13C TNFRSF13B CD19
27	mature b-cell neoplasm	9.6	CR2 CD19
28	pfeiffer syndrome	9.5	CR2 CD19
29	lymphoma, mucosa-associated lymphoid type	9.5	TNFRSF13C CR2 CD19
30	autoimmune disease	9.5	TNFRSF13C TNFRSF13B CR2
31	myeloma, multiple	9.5	TNFRSF13C TNFRSF13B CD19
32	b-cell lymphoma	9.4	TNFRSF13C CR2 CD19
33	follicular lymphoma	9.4	TNFRSF13C CR2
34	b cell deficiency	9.2	TNFRSF13C TNFRSF13B CR2 CD19
35	potocki-shaffer syndrome	9.2	TNFRSF13C TNFRSF13B CR2 CD19
36	lymphoma, non-hodgkin, familial	9.2	TNFRSF13C TNFRSF13B CR2 CD19
37	leukemia, chronic lymphocytic	9.1	TNFRSF13C TNFRSF13B CR2 CD19
38	systemic lupus erythematosus	8.5	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	autoimmunity ³¹	HP:0002960
5	recurrent otitis media ³¹	HP:0000403
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:

⁵⁶

Abdomen Spleen:
splenomegaly

Neoplasia:
lymphoma

Neurologic Central Nervous System:
meningitis

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Head And Neck Head:
sinusitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis

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

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

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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, Lymph Node

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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. ⁶ ⁵⁶	Castigli E...Geha RS	16007086	2005
2	Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. ⁵⁶ 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. ⁵⁶	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	TACI mutation in common variable immunodeficiency and IgA deficiency. ⁶	Rachid R...Bonilla FA	16899196	2006
7	Unraveling TACIt functions. ⁵⁶	Martin F...Dixit VM	16049503	2005
8	Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical cases. ⁶¹	Pacheco C...Cunha J	24462347	2014
9	Current spectrum of malabsorption syndrome in adults in India. ⁶¹	Yadav P...Makharia GK	21369836	2011
10	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	PubmedIds
1	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	1342.37	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	16007087 16007086 17492055 (more) 16899196 19605846
2	CD19	CD19 Molecule	Protein Coding	100	Genetic Tests ²⁹
3	CR2	Complement C3d Receptor 2	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 90) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TNFRSF13B	NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs)	duplication	Pathogenic	582925	rs769165409	17:16843698-16843699	17:16940384-16940385
2	TNFRSF13B	NM_012452.3(TNFRSF13B):c.222_226GCAAG[1] (p.Gly76fs)	short repeat	Pathogenic	657940		17:16852266-16852270	17:16948952-16948956
3	TNFRSF13B	NM_012452.2(TNFRSF13B):c.95_96dupGA	short repeat	Pathogenic	647108		17:16855862-16855863	17:16952548-16952549
4	TNFRSF13B	NM_012452.2(TNFRSF13B):c.61+1G>T	SNV	Pathogenic	647267		17:16875328-16875328	17:16972014-16972014
5	TNFRSF13B	NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)	SNV	Pathogenic	840923		17:16855761-16855761	17:16952447-16952447
6	TNFRSF13B	TNFRSF13B, 1-BP INS, 204A	insertion	Pathogenic	5305
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.431C>A (p.Ser144Ter)	SNV	Pathogenic	5307	rs104894650	17:16852066-16852066	17:16948752-16948752
9	TNFRSF13B	NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter)	SNV	Pathogenic	203368	rs72553882	17:16843779-16843779	17:16940465-16940465
10	TNFRSF13B	NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter)	SNV	Pathogenic	265340	rs104894650	17:16852066-16852066	17:16948752-16948752
11	TNFRSF13B	NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs)	deletion	Pathogenic/Likely pathogenic	538707	rs1555550717	17:16875341-16875341	17:16972027-16972027
12	TNFRSF13B	NM_012452.3(TNFRSF13B):c.62-1G>A	SNV	Likely pathogenic	853184		17:16855898-16855898	17:16952584-16952584
13	TNFRSF13B	NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)	SNV	risk factor	5302	rs34557412	17:16852187-16852187	17:16948873-16948873
14	TNFRSF13B	NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr)	SNV	Likely pathogenic	645207		17:16852186-16852186	17:16948872-16948872
15	TNFRSF13B	NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs)	duplication	Conflicting interpretations of pathogenicity	322029	rs72553875	17:16852292-16852293	17:16948978-16948979
16	TNFRSF13B	NM_012452.2(TNFRSF13B):c.126T>C (p.Pro42=)	SNV	Conflicting interpretations of pathogenicity	322030	rs377551435	17:16855833-16855833	17:16952519-16952519
17	TNFRSF13B	NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys)	SNV	Conflicting interpretations of pathogenicity	281110	rs72553876	17:16852261-16852261	17:16948947-16948947
18	TNFRSF13B	NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu)	SNV	Conflicting interpretations of pathogenicity	5303	rs72553883	17:16843729-16843729	17:16940415-16940415
19	TNFRSF13B	NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His)	SNV	Conflicting interpretations of pathogenicity	5304	rs104894649	17:16843666-16843666	17:16940352-16940352
20	TNFRSF13B	NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn)	SNV	Conflicting interpretations of pathogenicity	618436	rs72553877	17:16852237-16852237	17:16948923-16948923
21	TNFRSF13B	NM_012452.2(TNFRSF13B):c.568G>C (p.Gly190Arg)	SNV	Conflicting interpretations of pathogenicity	636586		17:16843703-16843703	17:16940389-16940389
22	TNFRSF13B	NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter)	SNV	Conflicting interpretations of pathogenicity	657318		17:16843692-16843692	17:16940378-16940378
23	TNFRSF13B	NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg)	SNV	Conflicting interpretations of pathogenicity	440340	rs143027621	17:16843759-16843759	17:16940445-16940445
24	TNFRSF13B	NM_012452.2(TNFRSF13B):c.577T>C (p.Cys193Arg)	SNV	Conflicting interpretations of pathogenicity	449227	rs764125338	17:16843694-16843694	17:16940380-16940380
25	TNFRSF13B	NM_012452.2(TNFRSF13B):c.515G>A (p.Cys172Tyr)	SNV	Uncertain significance	449548	rs751216929	17:16843756-16843756	17:16940442-16940442
26	TNFRSF13B	NM_012452.2(TNFRSF13B):c.566G>T (p.Arg189Met)	SNV	Uncertain significance	471369	rs199777698	17:16843705-16843705	17:16940391-16940391
27	TNFRSF13B	NM_012452.2(TNFRSF13B):c.716C>T (p.Ala239Val)	SNV	Uncertain significance	471370	rs375891337	17:16843027-16843027	17:16939713-16939713
28	TNFRSF13B	NM_012452.2(TNFRSF13B):c.754G>A (p.Asp252Asn)	SNV	Uncertain significance	538708	rs111439115	17:16842989-16842989	17:16939675-16939675
29	TNFRSF13B	NM_012452.2(TNFRSF13B):c.641T>C (p.Met214Thr)	SNV	Uncertain significance	538714	rs144560464	17:16843102-16843102	17:16939788-16939788
30	TNFRSF13B	NM_012452.2(TNFRSF13B):c.290C>G (p.Pro97Arg)	SNV	Uncertain significance	538711	rs754139414	17:16852207-16852207	17:16948893-16948893
31	TNFRSF13B	NM_012452.2(TNFRSF13B):c.452C>T (p.Pro151Leu)	SNV	Uncertain significance	546790	rs200037919	17:16843819-16843819	17:16940505-16940505
32	TNFRSF13B	NM_012452.2(TNFRSF13B):c.631+8C>T	SNV	Uncertain significance	576964	rs1210149250	17:16843632-16843632	17:16940318-16940318
33	TNFRSF13B	NM_012452.2(TNFRSF13B):c.568G>A (p.Gly190Arg)	SNV	Uncertain significance	579029	rs150101848	17:16843703-16843703	17:16940389-16940389
34	TNFRSF13B	NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys)	SNV	Uncertain significance	577672	rs200013015	17:16875332-16875332	17:16972018-16972018
35	TNFRSF13B	NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met)	SNV	Uncertain significance	568673	rs149635611	17:16843003-16843003	17:16939689-16939689
36	TNFRSF13B	NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg)	SNV	Uncertain significance	576346	rs773591883	17:16855883-16855883	17:16952569-16952569
37	TNFRSF13B	NM_012452.2(TNFRSF13B):c.838G>C (p.Gly280Arg)	SNV	Uncertain significance	582908	rs374957601	17:16842905-16842905	17:16939591-16939591
38	TNFRSF13B	NM_012452.2(TNFRSF13B):c.567_568delinsTT (p.Arg189_Gly190delinsSerTrp)	indel	Uncertain significance	660587		17:16843703-16843704	17:16940389-16940390
39	TNFRSF13B	NM_012452.2(TNFRSF13B):c.567G>C (p.Arg189Ser)	SNV	Uncertain significance	661773		17:16843704-16843704	17:16940390-16940390
40	TNFRSF13B	NM_012452.2(TNFRSF13B):c.543G>A (p.Ala181=)	SNV	Uncertain significance	641717		17:16843728-16843728	17:16940414-16940414
41	TNFRSF13B	NM_012452.2(TNFRSF13B):c.468T>G (p.Ser156Arg)	SNV	Uncertain significance	664357		17:16843803-16843803	17:16940489-16940489
42	TNFRSF13B	NM_012452.2(TNFRSF13B):c.346C>A (p.Pro116Thr)	SNV	Uncertain significance	643189		17:16852151-16852151	17:16948837-16948837
43	TNFRSF13B	NM_012452.2(TNFRSF13B):c.857C>T (p.Ala286Val)	SNV	Uncertain significance	641380		17:16842886-16842886	17:16939572-16939572
44	TNFRSF13B	NM_012452.2(TNFRSF13B):c.823C>T (p.Pro275Ser)	SNV	Uncertain significance	640348		17:16842920-16842920	17:16939606-16939606
45	TNFRSF13B	NM_012452.2(TNFRSF13B):c.776G>A (p.Trp259Ter)	SNV	Uncertain significance	653420		17:16842967-16842967	17:16939653-16939653
46	TNFRSF13B	NM_012452.2(TNFRSF13B):c.722C>T (p.Thr241Met)	SNV	Uncertain significance	660768		17:16843021-16843021	17:16939707-16939707
47	TNFRSF13B	NM_012452.2(TNFRSF13B):c.638C>T (p.Ala213Val)	SNV	Uncertain significance	661816		17:16843105-16843105	17:16939791-16939791
48	TNFRSF13B	NM_012452.2(TNFRSF13B):c.532T>C (p.Phe178Leu)	SNV	Uncertain significance	538712	rs764319738	17:16843739-16843739	17:16940425-16940425
49	TNFRSF13B	NM_012452.2(TNFRSF13B):c.364C>T (p.Arg122Trp)	SNV	Uncertain significance	577737	rs201124889	17:16852133-16852133	17:16948819-16948819
50	TNFRSF13B	NM_012452.2(TNFRSF13B):c.604C>T (p.Arg202Cys)	SNV	Uncertain significance	618435	rs143562358	17:16843667-16843667	17:16940353-16940353

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

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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 ¹ ³⁶ 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	12.07	TNFRSF13C TNFRSF13B ICOS
2	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	11.53	TNFRSF13C TNFRSF13B CR2
3	Hematopoietic cell lineage ³⁶	11.32	CR2 CD19
4	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁴ Show member pathways TNFs bind their physiological receptors ⁶⁵	11.17	TNFRSF13C TNFRSF13B
5	Primary immunodeficiency ³⁶	10.5	TNFRSF13C TNFRSF13B ICOS CD19

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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	adaptive immune response	GO:0002250	9.43	TNFRSF13C TNFRSF13B CD19
2	positive regulation of protein kinase B signaling	GO:0051897	9.4	ICOS CD19
3	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.37	TNFRSF13C TNFRSF13B
4	regulation of complement activation	GO:0030449	9.32	CR2 CD19
5	T cell costimulation	GO:0031295	9.16	TNFRSF13C ICOS
6	B cell homeostasis	GO:0001782	8.96	TNFRSF13C TNFRSF13B
7	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

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

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

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Publications for Immunodeficiency, Common Variable, 2

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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