Common Variable Immunodeficiency malady

NIH Rare Diseases: Common variable immunodeficiency is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that may cause infection.  The main features that separate CVID from other immunodeficiencies are low levels of two specific antibodies, immunoglobulin A (IgA) and immunoglobulin G (IgG).  Individuals with this condition develop more frequent infections, particularly in the sinuses, lungs, and digestive tract.   CVID symptoms most commonly begin in early adulthood, but have been found in children as young as two years.  Though some cases of CVID are caused by known genetic factors, the cause of most cases is unknown.   CVID can sometimes be treated by "replacing" antibodies into the body; this treatment is called "immunoglobulin therapy". ³⁰

MalaCards: Common Variable Immunodeficiency, also known as CVID, is related to immunodeficiency and lymphoproliferative syndrome. An important gene associated with Common Variable Immunodeficiency is MSH5 (mutS homolog 5 (E. coli)), and among its related pathways are Primary immunodeficiency and Lymphocyte Signaling. The drugs varicella zoster immune globulin (human) and globulin,immune and the compounds ivig and rapamycin have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and lymph node, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

Disease Ontology: A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low ig levels with phenotypically normal b cells that can proliferate but do not develop into ig-producing cells. patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin g (igg) and immunoglobulin a (iga); about half of these patients also have reduced immunoglobulin m (igm).⁶

Genetics Home Reference: Common variable immune deficiency (CVID) is a disorder that damages the immune system. Because their immune system cannot adequately protect them, people with CVID can develop recurrent infections in the lungs, sinuses, or ears. Over time, recurrent lung infections can lead to chronic lung disease and life-threatening breathing problems. Most people with CVID also have pneumonia at least once in their life. Affected individuals may also experience gastrointestinal problems, such as infections or inflammation. These problems can cause bloating, diarrhea, decreased absorption of nutrients, and weight loss. For reasons that are unclear, some people with CVID have enlarged lymph nodes or an enlarged spleen (splenomegaly).¹⁷

Wikipedia: Common variable immunodeficiency (CVID) (also known as Acquired hypogammaglobulinemia) is a group of...⁴⁴ more...

GeneReviews summary for cvid

Aliases & Descriptions:

common variable immunodeficiency 6 30 17 8 32 43 cvid 6 15 30 16 common variable immune deficiency 15 16 17 combined variable immune deficiency 15 16 acquired hypogammaglobulinemia 6 43 common variable agammaglobulinemia (disorder) 6 common variable hypogamma-globulinemia 30

immunoglobulin deficiency, late-onset 30 immunodeficiency, common variable 17 immunologic deficiency syndromes 43 hypogamma-globulinemia, acquired 30 sporadic hypogammaglobulinemia 6 acquired agammaglobulinemia 6 immunologic deficiency 43

Disease types for common variable immunodeficiency family:

immunodeficiency, common variable, 5	immunodeficiency, common variable, 6

Diseases related to common variable immunodeficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 893)

id	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency	35.3	BTK, SELL, LCK, CD28, CD79A, CD69
2	lymphoproliferative syndrome	30.5	SH2D1A, XIAP, CD27, CD40LG, IL10, IL2
3	t-lymphocytopenia	30.5	LBR, IL2, IL2RB, IL4, IL7, FAS
4	cd40 ligand deficiency	30.2	SH2D1A, CD79A, CD40LG, AICDA
5	immunodeficiency with hyper igm type 1	30.1	BTK, CD79A, CD40LG, CD40, IL4, AICDA
6	immunodeficiency with hyper igm	30.1	CD79A, CD40LG, CD40, AICDA
7	cd40 deficiency	30.1	CD40LG, CD40, AICDA
8	rheumatoid arthritis	30.0	IL1R1, IL1RN, MBL2, HLA-DRB1, TNFRSF1A
9	progressive multifocal leukoencephalopathy	29.9	LBR, CD40LG, IL2, TNF, PNP, ADA
10	primary immunodeficiency disease	29.9	CD40LG, CD19, CD40, IL4, ADA
11	nucleoside phosphorylase deficiency	29.5	FAS, PNP, ADA
12	central nervous system lymphoma	29.4	BCL6, CD40LG, MGMT, IL10, IL2, IL4
13	nijmegen breakage syndrome	29.0	CD79A, IL2, AICDA, TP53, RPA1
14	celiac disease	28.5	IL6, HLA-DQB1, HLA-DRB1, TNF, CTLA4
15	turner syndrome	28.4	BGLAP, CD79A, CD40LG, IL2RB, IL6, MBL2
16	takayasu's arteritis	28.3	LBR, CD40LG, IL12A, IL2, IL6, HLA-A
17	hepatitis	28.1	SERPINA1, IL2RB, FAS, HLA-A, HLA-DRB1, TNFRSF1A
18	arthritis	27.4	SELL, SERPINA1, IL17A, IL1A, IL1B, IL6
19	bronchiectasis	27.4	BTK, SERPINA1, SCNN1A, SCNN1B, SCNN1G, MPO
20	mediastinitis	26.9	BCL6, MPO, CD79A, IL1R1, IL2RA, IL4
21	hepatitis c	26.3	SERPINA1, BCL6, MX1, CD28, CD69, CD40LG
22	hemochromatosis	25.3	SERPINA1, B2M, MPO, FCGRT, IL6, HLA-A
23	thrombocytopenia	23.9	SELL, CD79A, CD36, CD70, CD40LG, CD19
24	twinning	23.6	BTK, BGLAP, B2M, MPO, CD79A, CD36
25	insulin resistance	23.0	SELL, BGLAP, MPO, CD36, CD40LG, CD40
26	blindness	21.1	BGLAP, B2M, MPO, CD79A, CD36, CD40LG
27	inflammatory bowel disease	18.3	SELL, SERPINA1, BGLAP, LCK, XBP1, B2M
28	agammaglobulinemia	14.1	SH2D1A, BTK, CD79A, CD40LG, CD40, IL2
29	selective iga deficiency disease	14.1	BTK, CD79A, CD40LG, IL10, IL4
30	immunoglobulin alpha deficiency	14.0	MSH5, CD79A, TNFRSF13B, C4A
31	hematologic cancer	14.0	IL2, IL2RA, IL2RB, MBL2
32	autoimmune thrombocytopenic purpura	14.0	CD79A, CD40LG, CD40, IL2RA
33	gamma heavy chain disease	13.9	BTK, IL2, IL21R, IL4, IL7
34	diffuse infiltrative lymphocytosis syndrome	13.9	SELL, B2M, CD28, IL2, IL2RA, IL2RB
35	extrinsic allergic alveolitis	13.9	SELL, B2M, CD28, IL2RA, IL2RB, TNFRSF1A
36	multifocal motor neuropathy	13.9	CD40LG, IL10, IL2, IL4, IFNG
37	lepromatous leprosy	13.8	IL10, IL2, IL4, IFNG
38	b cell deficiency	13.8	BTK, CD79A, IL4, IL5, TNFRSF13C
39	tuberculoid leprosy	13.8	IL10, IL2RA, IFNG
40	lymphosarcoma	13.8	BCL6, IL10, IL2RA, MBL2, TNFRSF8
41	htlv-1 associated myelopathy/tropical spastic paraparesis	13.8	IL2, IL2RA, HLA-A, CX3CR1
42	hypersensitivity reaction type iv disease	13.8	LBR, IL2, IL2RB, IL4, IFNG
43	tropical spastic paraparesis	13.8	IL2, IL2RA, IL2RB, IFNG
44	coccidioidomycosis	13.8	CD69, IL10, IL12A, MBL2, IFNG
45	gamma chain deficiency	13.8	IL2, IL21, IL2RA, IL2RB, IL4, IL7
46	keratomalacia	13.8	CD40LG, IL10, IL2, IL4, IFNG
47	cluster headache	13.8	SERPINA1, CD40LG, IL2, IL2RA, IL2RB, HFE
48	pseudohypoaldosteronism type i	13.8	SCNN1A, SCNN1B, SCNN1G
49	iritis	13.7	CD79A, CD40LG, HLA-B
50	relapsing polychondritis	13.7	CD79A, IL10, IL7, IFNG

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cytomegalovirus immune globulin, globulin,immune, globulin,immune (im), varicella zoster immune globulin, varicella zoster immune globulin (human), venoglobulin-i

MalaCards organs/tissues related to common variable immunodeficiency:

²²

MGI Mouse Phenotypes related to common variable immunodeficiency:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	10.5	TNFRSF1B, PNP, POU2AF1, TNFRSF13B, FCGR2B, SCNN1B
2	endocrine/exocrine gland phenotype	MP:0005379	10.1	SELL, MSH5, CD40LG, IL2, IL2RB, IFNG
3	respiratory system phenotype	MP:0005388	10.0	PRKCQ, ADA, PRKAR1A, CARD11, SELL, BCL6
4	no phenotypic analysis	MP:0003012	8.6	CX3CR1, PRDM1, PRKCQ, TP53, AICDA, ICOS
5	reproductive system phenotype	MP:0005389	8.5	IL6, IFNG, TNF, TNFRSF1A, TGFB1, PRKAR1A
6	digestive/alimentary phenotype	MP:0005381	8.3	CD19, IL17A, CCR7, IFNG, ICOS, AICDA
7	hematopoietic system phenotype	MP:0005397	8.3	CD19, CCL19, ICOS, CAMLG, CARD11, AICDA
8	liver/biliary system phenotype	MP:0005370	7.9	IL6, IFNG, TP53, TNFRSF13B, CTLA4, SOD1
9	normal phenotype	MP:0002873	7.8	TP53, HLA-DQB1, AICDA, IFNG, IL4, TNFRSF17
10	nervous system phenotype	MP:0003631	7.7	TNFRSF1A, TNFRSF1B, PLAU, PLAUR, TGFB1, PRKCQ
11	integument phenotype	MP:0010771	7.7	IFNG, CARD11, AICDA, TP53, TNFRSF1A, TNFRSF1B
12	skeleton phenotype	MP:0005390	7.5	TNFRSF1B, CTLA4, PLAU, PRKAR1A, ADA, TNFRSF1A
13	immune system phenotype	MP:0005387	7.0	SH2D1A, MBL2, IFNG, CAMLG, HLA-DQB1, TP53
14	adipose tissue phenotype	MP:0005375	6.8	TNFRSF1B, PLAU, TGFB1, PRKAR1A, PRKCQ, POMC
15	growth/size phenotype	MP:0005378	6.8	PLAU, TP53, FAS, IL6, IL5, PLAUR
16	vision/eye phenotype	MP:0005391	6.4	TNF, TNFRSF1A, TNFRSF1B, PLAU, TGFB1, PRKAR1A
17	muscle phenotype	MP:0005369	6.1	TNFRSF1A, TNFRSF1B, PLAU, PLAUR, TGFB1, PRKAR1A
18	behavior/neurological phenotype	MP:0005386	5.4	TNFRSF1A, TNF, TP53, HLA-DQB1, IFNG, TNFRSF1B
19	mortality/aging	MP:0010768	5.3	LBR, IL17A, IL1B, IL1R1, IL21R, IL2RA
20	tumorigenesis	MP:0002006	5.2	BTK, SELL, B2M, CD19, MGMT, IL10
21	cardiovascular system phenotype	MP:0005385	3.4	TNFSF4, TNFRSF1B, TNFRSF1A, TNF, TP53, HLA-DQB1
22	cellular phenotype	MP:0005384	3.0	SH2D1A, VPREB1, BTK, SELL, VAV1, BCL6
23	homeostasis/metabolism phenotype	MP:0005376	3.0	FCGR2B, CCR7, ICOS, CARD11, HLA-DQB1, TP53

Articles related to common variable immunodeficiency:

(show top 50)    (show all 150)

id	Title	Authors	Year	Affiliating Genes
1	Association of FcRn expression with lung abnormalitie s and IVIG catabolism in patients with common variable immunodeficiency. (20627700)	Freiberger T.... Litzman J.	2010	FCGRT
2	Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. (20156508)	Dong X.... Abraham R.S.	2010	TNFRSF13B
3	The murine equivalent of the A181E TACI mutation asso ciated with common variable immunodeficiency severely impairs B-cell function. (19605846)	Lee J.J.... Geha R.S.	2009	TNFRSF13B
4	Mannose-binding lectin polymorphisms in common variable immunodeficiency. (19408100)	Aghamohammadi A.... Amirzargar A.A.	2009	MBL2
5	Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA defici ency. (19738033)	Borte S.... HammarstrAPm L.	2009	IL21
6	Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. (19249119)	Rezaei N.... Amirzargar A.A.	2009	IL4, IL10
7	Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. (19076825)	Rezaei N.... Aghamohammadi A.	2009	IL6, IL1B, IL1R1
8	Screening of functional and positional candidate genes in families with common variable immunodeficiency. (18254984)	Salzer U.... Grimbacher B.	2008	TNFSF13, TNFRSF17, IL21R
9	Sequence Analysis of BIRC4/XIAP in Male Patients with Common Variable Immunodeficiency. (18520160)	Salzer U.... Grimbacher B.	2008	XIAP
10	Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. (18637104)	Litzman J.... Thon V.	2008	MBL2
11	Genetic polymorphism study of regulatory B cell molecules and cellular immunity function in an adult patient with Common Variable Immunodeficiency. (18923749)	Sarantopoulos A.... Boura P.	2008	TNFRSF13B, ICOS
12	Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome. (18190602)	Khan S.... Sewell W.A.	2008	SBDS
13	Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. (17392797)	Pan-Hammarstrom Q.... Hammarstrom L.	2007	TNFRSF13B
14	B-cell numbers in the blood of patients with non-HLA*B8 or non-HLA*B44 common variable immunodeficiency. (17304884)	Johnston D.T.... Schroeder H.W.	2007	HLA-DRB1, HLA-B
15	Progressive multifocal leukoencephalopathy in a patie nt with common variable immunodeficiency and abnormal CD8+ T-cell subset distri bution. (17521034)	Narula S.... Levinson A.I.	2007	IL2
16	A case of common variable immunodeficiency syndrome associated with Takayasu arteritis. (17304891)	Jerschow E.... Rosenstreich D.	2007	CD40LG
17	Spectrum of illness in pediatric common variable immunodeficiency. (17165275)	Ogershok P.R.... Wilson N.W.	2006	IGSF3
18	TACI mutation in common variable immunodeficiency and IgA deficiency. (16899196)	Rachid R.... Bonilla F.A.	2006	TNFRSF13B
19	Severe hypoleptinaemia associated with insulin resistance in patients with common variable immunodeficiency. (15963063)	Ferraroni N.R.... Velloso L.A.	2005	LSL
20	Defective Vav expression and impaired F-actin reorganization in a subset of patients with common variable immunodeficiency characterized by T-cell defects. (15817684)	Paccani S.R.... Baldari C.T.	2005	VAV1
21	TACI is mutant in common variable immunodeficiency and IgA deficiency. (16007086)	Castigli E.... Geha R.S.	2005	TNFRSF13B, TNFSF13
22	HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama. (12803653)	Barton J.C.... Acton R.T.	2003	HLA-A, HLA-B
23	Increased levels of biochemical markers of bone turnover in relation to persistent immune activation in common variable immunodeficiency. (11168441)	Ueland T.... Aukrust P.	2001	CD36, BGLAP
24	Long-term low-dose IL-2 enhances immune function in common variable immunodeficiency. (11465947)	Cunningham-Rundles C.... Zhuo Z.	2001	IL2
25	Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. (10844531)	Kanegane H.... Miyawaki T.	2000	BTK
26	Common-variable immunodeficiency-related lymphomas associate with mutations and rearrangements of BCL-6: pathogenetic and histogenetic implications. (10923927)	Ariatti C.... Gaidano G.	2000	BCL6
27	Variation in immunoregulatory genes determines the cl inical phenotype of common variable immunodeficiency. (11196660)	Mullighan C.G.... Welsh K.I.	1999	IL6
28	IL-10 production in common variable immunodeficiency. (9557163)	Zhou Z.... Cunningham-Rundles C.	1998	IL10
29	Common variable immunodeficiency associated with aut oimmune thrombocytopenia: anesthetic management (9927836)	FernA!ndez-Liesa J.I.... CalderA^n R.	1998	IL3
30	EBV-positive primary central nervous system lymphomas in monozygote twins with common variable immunodeficiency and suspected multip le sclerosis. (9498719)	Jensen M.K.... Knudsen F.	1997	TP53
31	IL-10 production and CD40L expression in patients with common variable immunodeficiency. (9246212)	Oliva A.... Pandolfi F.	1997	IL10
32	L-selectin in patients with common variable immunodeficiency (CVID): a comparative study with normal individuals. (8625520)	Zhang J.G.... Spickett G.P.	1996	SELL
33	Expression of surrogate light chain in common variable immunodeficiency. (7710759)	Yano M.... Orii T.	1995	VPREB1
34	Alterations in interleukin secretion (IL-2 and IL-4) by CD4 and CD4 CD45RO cells from common variable immunodeficiency (CVI) patients. (7586680)	Ferrer J.M.... Matamoros N.	1995	IL2, IL4
35	B cell lines from a subset of patients with common variable immunodeficiency undergo enhanced apoptosis associated with an increased display of CD95 (Apo-1/fas), diminished CD38 expression, and decreased IgG and IgA production. (7585984)	Guo B.C.... Saxon A.	1995	CD79A
36	On interleukins 4, 6 and 10 and their interrelationship with immunoglobulins G and M in common variable immunodeficiency. (7894390)	Fritsch A.... Jager L.	1994	IL4
37	Interleukin-2 and interferon-gamma production by peripheral blood lymphocytes of patients with common variable immunodeficiency. (7981881)	Inoue Y.... Orii T.	1994	IL2
38	Salivary defense factors and oral health in patients with common variable immunodeficiency. (7929697)	KirstilAo V.... Vilja P.	1994	MPO, LTF, LPO
39	B cell differentiation defects in common variable immunodeficiency are ameliorated after stimulation with anti-CD40 antibody and IL-10. (7515919)	Eisenstein E.M.... Strober W.	1994	IL10
40	Co-stimulation with anti-CD28 (Kolt-2) enhances DNA s ynthesis by defective T cells in common variable immunodeficiency. (7905793)	North M.E.... Farrant J.	1994	LBR
41	Defective calcium-dependent signal transduction in B lymphocytes of a certain common variable immunodeficiency. (8398198)	Kondo N.... Orii T.	1993	CD40LG
42	Patients with common variable immunodeficiency (CVID) display aberrant IL-2 and IFN-gamma mRNA levels. (8167712)	Hauber I.... Eibl M.M.	1993	IL2
43	Abnormal responses of common variable immunodeficiency patients' B cells to Staphylococcus aureus Cowan I and interleukin-2. (8318811)	Inoue Y.... Orii T.	1993	IL2
44	Interleukin-10 for common variable immunodeficiency. (7901653)	Fuchs D.... Wachter H.	1993	IL10
45	Functional abnormalities of CD8+ T cells define a unique subset of patients with common variable immunodeficiency. (8100719)	Jaffe J.S.... Sneller M.C.	1993	IL2
46	Interleukin 10 and immune restoration in common variable immunodeficiency. (8103865)	Zielen S.... Meuer S.C.	1993	IL10
47	Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency. (1438261)	Olerup O.... Hammarstrom L.	1992	CD79A, HLA-DQB1, CYP21A1P
48	Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. (1645668)	Tovo P.A.... De Sanctis C.	1991	POMC
49	Raised serum levels of CD8, CD25 and beta 2-microglobulin in common variable immunodeficiency. (1934593)	North M.E.... Farrant J.	1991	IL2RA, B2M, IL2RB
50	Defects in proliferative responses of T cells from patients with common variable immunodeficiency on direct activation of protein kinase C. (1863999)	North M.E.... Farrant J.	1991	LBR

Genes related to common variable immunodeficiency according to GeneCards:

(show top 50)    (show all 105)

id	Symbol	Description	Score	GeneCards Section Context
1	MSH5	mutS homolog 5 (E. coli)	11.1	Summaries
2	TNFRSF13B	tumor necrosis factor receptor superfamily, member 13B	11.0	Publications
3	VPREB1	pre-B lymphocyte 1	11.0	Publications
4	TNFRSF13C	tumor necrosis factor receptor superfamily, member 13C	11.0	Publications
5	ICOS	inducible T-cell co-stimulator	11.0	Publications
6	SH2D1A	SH2 domain containing 1A	11.0	Publications
7	TNFSF13B	tumor necrosis factor (ligand) superfamily, member 13b	11.0	Publications
8	AICDA	activation-induced cytidine deaminase	11.0	Publications
9	CD27	CD27 molecule	11.0	Publications
10	MBL2	mannose-binding lectin (protein C) 2, soluble	11.0	Publications
11	BTK	Bruton agammaglobulinemia tyrosine kinase	11.0	Publications
12	CD28	CD28 molecule	11.0	Publications
13	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
14	CD86	CD86 molecule	11.0	Publications
15	CD40LG	CD40 ligand	11.0	Publications
16	IL2RB	interleukin 2 receptor, beta	11.0	Publications
17	LCK	lymphocyte-specific protein tyrosine kinase	11.0	Publications
18	IL10	interleukin 10	11.0	Publications
19	IL2	interleukin 2	11.0	Publications
20	IL4	interleukin 4	11.0	Publications
21	IL2RA	interleukin 2 receptor, alpha	11.0	Publications
22	CD40	CD40 molecule, TNF receptor superfamily member 5	11.0	Publications
23	TNFRSF1A	tumor necrosis factor receptor superfamily, member 1A	11.0	Publications
24	SELL	selectin L	11.0	Publications
25	TNFSF13	tumor necrosis factor (ligand) superfamily, member 13	11.0	Publications
26	CYP21A1P	cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene	11.0	Publications
27	TNFRSF17	tumor necrosis factor receptor superfamily, member 17	11.0	Publications
28	SBDS	Shwachman-Bodian-Diamond syndrome	11.0	Publications
29	CAMLG	calcium modulating ligand	11.0
30	CD24	CD24 molecule	11.0	Publications
31	CD70	CD70 molecule	11.0	Publications
32	POU2AF1	POU class 2 associating factor 1	11.0	Publications
33	FCGRT	Fc fragment of IgG, receptor, transporter, alpha	11.0	Publications
34	LPO	lactoperoxidase	11.0	Publications
35	TNFSF4	tumor necrosis factor (ligand) superfamily, member 4	11.0	Publications
36	XBP1	X-box binding protein 1	11.0	Publications
37	IL21R	interleukin 21 receptor	11.0	Publications
38	IL21	interleukin 21	11.0	Publications
39	LBR	lamin B receptor	11.0	Publications
40	SCNN1B	sodium channel, non-voltage-gated 1, beta subunit	11.0
41	PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha	11.0	Publications
42	PRDM1	PR domain containing 1, with ZNF domain	11.0	Publications
43	PNP	purine nucleoside phosphorylase	11.0	Publications
44	SCNN1G	sodium channel, non-voltage-gated 1, gamma subunit	11.0
45	PDCD6	programmed cell death 6	11.0	Publications
46	MX1	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	11.0	Publications
47	SWAP70	SWAP switching B-cell complex 70kDa subunit	11.0	Publications
48	SCNN1A	sodium channel, non-voltage-gated 1 alpha subunit	11.0
49	IGSF3	immunoglobulin superfamily, member 3	11.0	Publications
50	CX3CR1	chemokine (C-X3-C motif) receptor 1	11.0	Publications

Pathways related to common variable immunodeficiency according to GeneDecks:

(show top 50)    (show all 141)

id	Pathway	Score	Top Affiliating Genes
1	Primary immunodeficiency20	10.9	BTK
2	Lymphocyte Signaling3	10.4	SH2D1A, BTK, PRDM1, AICDA, CARD11, IL2RB
3	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway10	10.4	TNFRSF1A, TNFRSF17, TNFRSF13B, CD40, CD40LG, TNFSF13B
4	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway41	10.2	CD40LG, CD40, TNF, TNFRSF13B, TNFRSF17, TNFRSF1A
5	Graft-versus-host disease20	10.1	HLA-B, HLA-A, IL2, IL1A, CD86, CD28
6	RAR-Gamma-RXR-Alpha Degradation36	10.1	TNFSF13B, TNFSF13, CCL19, CCL21, IL7, IL3
7	IL-6 Pathway36	9.9	TNFSF4, BTK, IL10, IL12A, TNFSF13B, TNFSF13
8	THC Differentiation Pathway36	9.8	IL2RA, IL2, IL12RB1, IL12A, IL10, CD86
9	NFAT Signaling and Lymphocyte Interactions36	9.7	TNFSF13B, BTK, IL12A, IL1A, TNFRSF17, CCL19
10	Jak-STAT signaling pathway20	9.6	IL3, IL10, IL12A, IL12RB1, IL2, IL21
11	Akt Signaling36	9.5	CX3CR1, IL2RB, IL2RA, IL21, IL2, IL12RB1
12	IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types37	9.5	TNFRSF1A, TNF, FAS, IL2RB, IL2RA, IL2
13	T cell receptor signaling pathway20	9.4	CARD11, TNF, CTLA4, PRKCQ, VAV1, LCK
14	Immune System38	9.4	IL1R1, FCGR2B, CD40, CD79A, MX1, IL3
15	Asthma20	9.3	TNF, HLA-DRB1, HLA-DQB1, IL5, IL4, IL3
16	TRAF Pathway36	9.2	IL12A, TNFRSF13B, TNFRSF17, TLR9, TNFSF13B, TNFSF13
17	Autoimmune thyroid disease20	9.0	CTLA4, HLA-DRB1, HLA-DQB1, HLA-B, CD28, HLA-A
18	Allograft rejection20	9.0	TNF, HLA-DRB1, HLA-DQB1, CD86, CD28, CD40LG
19	Regulation of eIF4 and p70S6K36	9.0	CCL19, TNFRSF17, TNFSF13B, IL1A, CCL21, BTK
20	Intestinal immune network for IgA production20	8.9	ICOS, IL6, CD28, CD86, CD40LG, CD40
21	PGC1Alpha Pathway36	8.9	IL5, IL4, IL3, IL2RB, IL2, IL1R1
22	Cytokine Network36	8.7	TNF, IFNG, IL6, IL5, IL4, IL3
23	SOCS Pathway36	8.6	IL2, IL1B, IL1A, IL12A, IL10, BTK
24	Type I diabetes mellitus20	8.5	IL1B, IL1A, IL12A, CD86, CD28, TNF
25	Th17 Differentiation37	8.5	IL1B, IL1R1, IL21, IL21R, IL6, TGFB1
26	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types37	8.5	IL21R, IL21, IL1B, IL4, IL6, CCR7
27	Endothelin-1 Signaling Pathway36	8.5	PRKCQ, TNFSF4, TNFSF13B, TNFSF13, CCL19, CCL21
28	MIF Mediated Glucocorticoid Regulation36	8.4	TNFSF13B, TNFSF13, TNFSF4, CX3CL1, IL3, IL21
29	all-trans-Retinoic Acid Signaling in Brain36	8.4	IL5, IL4, IL3, IL21, IL2, IL1B
30	Malaria20	8.3	TLR9, TGFB1, TNF, IFNG, CD36, CD40LG
31	PEDF Induced Signaling36	8.3	CX3CL1, IL21, IL2, IL1B, IL1A, IL12A
32	Hematopoietic cell lineage20	8.2	IL6, CD24, IL5, IL4, IL3, IL2RA
33	Tec Kinases Signaling36	8.2	CX3CR1, TGFB1, TLR9, TNFSF13B, TNFRSF8, TNFRSF1B
34	Rho Family GTPases36	8.0	CX3CL1, IL1A, TGFB1, IL2, IL21, IL3
35	TGF-Beta Pathway36	7.8	TNFRSF13C, IL1B, IL1A, IL12A, IL10, BTK
36	Chagas disease (American trypanosomiasis)20	7.8	IL10, IL12A, CD247, IL2, IL6, FAS
37	Glucocorticoid Receptor Signaling36	7.8	CCL21, IL7, IL6, IL5, IL4, IL3
38	STAT3 Pathway36	7.8	CX3CR1, CX3CL1, TNFSF4, TNFSF13B, TNFSF13, TNFRSF8
39	Measles20	7.8	SH2D1A, MX1, CD28, FCGR2B, IL12A, IL1A
40	Rheumatoid arthritis20	7.7	TGFB1, CTLA4, TNFSF13B, TNFSF13, TNF, HLA-DRB1
41	PAK Pathway36	7.7	TNFSF13B, IL1B, IL1A, IL12A, IL10, BTK
42	NF-KappaB Family Pathway36	7.7	PRKCQ, IL1R1, VAV1, TLR9, TNFRSF1A, TNFRSF1B
43	ERK Signaling36	7.7	TNFSF13B, TNFSF4, TGFB1, BTK, PRKAR1A, IL1A
44	MIF Regulation of Innate Immune Cells36	7.6	IL4, IL3, IL21, IL2, IL1B, IL1A
45	MAPK Family Pathway36	7.6	TGFB1, TNFSF13B, IL2RB, IL2RA, IL2, IL1R1
46	JAK-STAT Pathway36	7.6	BTK, TGFB1, IL4, IL3, IL2RB, IL2RA
47	Molecular Mechanisms of Cancer36	7.3	PRKCQ, TGFB1, TNFSF4, TNFSF13B, TNFRSF8, TNFRSF1B
48	Antioxidant Action of Vitamin-C36	6.9	TNFRSF13C, CD28, BTK, PRKAR1A, TGFB1, TNFSF4
49	Cytokine-cytokine receptor interaction20	6.4	IL10, CD40, CD40LG, CD70, CD27, IL12A
50	p38 Signaling36	6.1	CX3CR1, CX3CL1, PRKCQ, TGFB1, TNFSF4, TNFSF13B

Compounds related to common variable immunodeficiency according to GeneDecks:

(show top 50)    (show all 315)

id	Compound	Score	Top Affiliating Genes
1	ivig32	10.5	BTK, FCGR2B, FCGRT, IL3, AICDA
2	rapamycin32 42	11.4	SELL, CD86, IL1R1, IL2, IL2RB, IFNG
3	bcma32	10.0	CD27, CD40, TNF, TNFRSF13B, TNFRSF13C, TNFRSF17
4	ionomycin32	10.0	BTK, VAV1, LCK, CD69, CD70, CD40
5	rituximab32 34 9 9	12.8	BCL6, XIAP, CD79A, CD40LG, CD40, FCGR2B
6	tuberculin32	9.7	LBR, CD79A, CD69, CD40LG, IL10, IL2RA
7	endotoxin32	9.7	SELL, CD86, CD40, IL1R1, IL2RB, TNFRSF1A
8	con a32	9.5	LBR, CD28, CD79A, CD69, IL10, IL2
9	polyinosinic-polycytidylic acid32	9.2	CD83, CD40, IL10, IL2, IL4, IL5
10	allergens32	9.2	CD79A, CD69, CD86, CD40LG, CD83, CD40
11	sb 20358032 42	9.8	BTK, BGLAP, CD36, IL17A, IL1R1, IL6
12	estrogen32	8.7	SERPINA1, BGLAP, XBP1, CD36, MGMT, FCGR2B
13	n acetylcysteine32	8.7	CD79A, CD40, IL1R1, IL2RA, IL2RB, IL3
14	pge232	8.6	CD69, CD86, CD83, IL17A, IL1A, IL1R1
15	histamine32 18	9.6	BTK, SELL, BGLAP, LBR, MPO, CD79A
16	cysteine32	8.5	BTK, SERPINA1, LPO, BGLAP, LCK, LBR
17	heparin32 9 18 9	11.5	SERPINA1, BGLAP, LBR, MPO, CD79A, CD36
18	il-1232	8.4	CD86, CD40LG, IL10, IL12RB1, IL1B, IL1R1
19	h2o232	8.4	SELL, SERPINA1, LPO, BGLAP, LCK, LBR
20	ly29400232	8.4	CD69, IL10, IL17A, IL1B, IL4, IL6
21	etanercept32 9 9	10.4	FCGR2B, IL10, IL17A, IL1B, IL1R1, IL1RN
22	thalidomide32 42 9 9	11.2	SELL, XIAP, B2M, CD36, CD40LG, IL10
23	pentoxifylline32 9 9	9.9	SELL, LBR, MPO, IL10, IL1A, IL1B
24	gm-csf32	7.9	IL10, IL1A, IL1B, IL2, IL3, IL4
25	tacrolimus32 34 9 9	10.9	CD28, CD79A, CD36, CD69, CD86, CD40
26	calcium32 9 18 9	10.9	SH2D1A, PDCD6, BTK, LPO, VAV1, BGLAP
27	prednisolone32 9 9	9.8	SELL, BGLAP, MPO, CD79A, CD40, IL10
28	fmlp32	7.7	SELL, VAV1, MPO, CD69, FCGR2B, IL1A
29	arginine32	7.5	BTK, LPO, VAV1, BGLAP, LBR, CD79A
30	infliximab32 9 9	9.4	BGLAP, LBR, IL10, IL17A, IL1B, IL1R1
31	herbimycin a32 42	8.3	SELL, VAV1, LCK, CD28, CD36, CD69
32	neopterin32	7.2	MX1, LBR, B2M, CD79A, CD40LG, CD40
33	nitric oxide32 9 18 9	10.0	SERPINA1, LPO, MPO, CD86, CD40, MGMT
34	lipid32	6.8	BTK, SERPINA1, LPO, VAV1, MX1, LCK
35	vitamin d32	6.7	BGLAP, LBR, XBP1, B2M, CD79A, CD36
36	hydrocortisone32 9 9	8.7	BGLAP, CD36, CD40, IL10, IL1A, IL1B
37	il 1032	6.7	CD40, IL10, IL1A, IL1B, IL1R1, IL1RN
38	rantes32	6.6	SELL, MX1, LBR, CD70, CD40LG, CD40
39	cyclosporin a32 42	7.5	VAV1, BGLAP, LBR, B2M, CD28, CD69
40	creatinine32	6.3	SELL, SERPINA1, B2M, MPO, CD79A, CD69
41	alanine32	5.8	SELL, BGLAP, MX1, LCK, B2M, CD79A
42	vegf32	5.5	BGLAP, LCK, XIAP, XBP1, MPO, CD36
43	paraffin32	5.5	SELL, SERPINA1, BGLAP, BCL6, XIAP, B2M
44	indomethacin32 9 9	7.2	SELL, B2M, MPO, CD79A, CD40LG, CD40
45	tyrosine32	5.1	SH2D1A, BTK, SELL, SERPINA1, LPO, VAV1
46	thymidine32 18	5.6	SERPINA1, LBR, B2M, CD69, CD40, MGMT
47	cycloheximide32	4.5	SELL, BCL6, MX1, LCK, LBR, XIAP
48	dexamethasone32 42 34 9 9	7.9	SELL, VAV1, BGLAP, SCNN1A, LCK, LBR
49	serine32	3.6	BTK, SELL, SERPINA1, VAV1, BGLAP, BCL6
50	retinoic acid32 42 18	5.6	SELL, VAV1, BGLAP, BCL6, LBR, XIAP

Cellular components related to common variable immunodeficiency according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	sodium channel complex	GO:034706	10.2	SCNN1G, SCNN1B, SCNN1A
2	MHC class I protein complex	GO:042612	9.7	HFE, HLA-B, HLA-A, FCGRT, B2M
3	membrane raft	GO:045121	9.7	TNFRSF1B, TNFRSF1A, TNF, CARD11, FAS, CD36
4	integral to lumenal side of endoplasmic reticulum membrane	GO:071556	9.6	HLA-A, HLA-B, HLA-DQB1, HLA-DRB1
5	ER to Golgi transport vesicle membrane	GO:012507	9.2	HLA-DRB1, HLA-DQB1, HLA-B, HLA-A, B2M
6	external side of plasma membrane	GO:009897	8.3	ADA, CD86, CD69, CD36, CD27, CD79A
7	cell surface	GO:009986	8.3	PLAU, PLAUR, TGFB1, CX3CL1, ADA, TNFSF4
8	integral to plasma membrane	GO:005887	8.0	ICOS, HLA-A, HLA-B, HLA-DRB1, TNF, TNFRSF13B
9	plasma membrane	GO:005886	5.6	TNFRSF8, TNFRSF1B, TNFRSF1A, TNFRSF17, TNF, HLA-DRB1
10	extracellular region	GO:005576	5.1	PLAU, TNFRSF1B, TNFRSF1A, ICOS, IFNG, CCL19
11	extracellular space	GO:005615	5.0	ADA, POMC, SOD1, CX3CL1, SERPINA1, IL2

Biological processes related to common variable immunodeficiency according to GeneDecks:

(show top 50)    (show all 88)

id	Name	GO ID	Score	Top Affiliating Genes
1	B cell proliferation	GO:042100	10.7	CD40, CD40LG, IL10, CD79A
2	B cell differentiation	GO:030183	10.7	CD79A, CD40LG, IL10, IL4, AICDA, BCL6
3	positive regulation of activated T cell proliferation	GO:042104	10.7	TNFSF4, IL2, IL12RB1, CD24, IL4
4	positive regulation of interleukin-10 production	GO:032733	10.6	IL21, CD40LG, CD83, IL4, TNFSF4, TLR9
5	positive regulation of isotype switching to IgG isotypes	GO:048304	10.6	IL4, IL2, CD40, IFNG
6	positive regulation of inflammatory response	GO:050729	10.6	IL2, IL21, TNFRSF1A, TLR9, CX3CL1, TNFSF4
7	positive regulation of MHC class II biosynthetic process	GO:045348	10.6	IFNG, IL10, CD40LG, IL4
8	response to molecule of bacterial origin	GO:002237	10.5	B2M, CD24, IL10, TLR9
9	negative regulation of growth of symbiont in host	GO:044130	10.3	TNF, MBL2, IFNG, IL10, CD36
10	positive regulation of B cell proliferation	GO:030890	10.3	CD40, IL2, IL4, IL5, ADA, IL7
11	positive regulation of interleukin-12 production	GO:032735	10.3	CD40LG, CD36, CCR7, CCL19, IFNG, TNFSF4
12	regulation of defense response to virus by virus	GO:050690	10.2	CD28, CD247, HLA-A, LCK, B2M
13	cellular response to lipopolysaccharide	GO:071222	10.2	CD36, IL10, IFNG, TNFRSF1B, TNFSF4, CX3CR1
14	positive regulation of tumor necrosis factor production	GO:032760	10.1	IFNG, CCL19, CD36, TNFRSF1A, TLR9
15	positive regulation of immunoglobulin secretion	GO:051024	10.0	TNFSF4, IL5, IL6, IL2
16	positive regulation of interferon-gamma production	GO:032729	10.0	TNF, IL2, IL1B, IL12A, TNFSF4, CD40LG
17	cell surface receptor signaling pathway	GO:007166	10.0	CD36, IFNG, TNFRSF13B, CD19, CD27, CD28
18	positive regulation of interleukin-2 biosynthetic process	GO:045086	10.0	PRKCQ, IL1B, IL1A, CD28, CD86
19	positive regulation of interleukin-17 production	GO:032740	10.0	IL21, IL2, PRKCQ, TGFB1
20	positive regulation of NF-kappaB import into nucleus	GO:042346	9.9	IL1B, CCL19, TLR9, PRKCQ, TNF
21	response to organic cyclic compound	GO:014070	9.9	PRKCQ, SERPINA1, CCL19, IL1RN, IL1A, CD83
22	negative regulation of B cell proliferation	GO:030889	9.9	IL10, CTLA4, PRDM1, TNFRSF13B
23	positive regulation of chemokine biosynthetic process	GO:045080	9.9	TNF, IL1B, IL4, IFNG
24	regulation of immune response	GO:050776	9.9	CD40LG, HLA-A, CD40, CD247, IL4, CD19
25	chronic inflammatory response to antigenic stimulus	GO:002439	9.7	IL1RN, IL1B
26	defense response	GO:006952	9.7	CD83, MPO, HLA-B, CAMLG, MX1, CX3CL1
27	positive regulation of JNK cascade	GO:046330	9.7	CCL21, IL1A, CCL19, TNF, TLR9, CCR7
28	positive regulation of calcidiol 1-monooxygenase activity	GO:060559	9.7	IL1B, IFNG, TNF
29	T cell costimulation	GO:031295	9.6	CD86, CCL21, CD24, CD28, LCK, VAV1
30	humoral immune response	GO:006959	9.6	TNF, POU2AF1, LTF, SH2D1A, CD28, CD83
31	defense response to Gram-positive bacterium	GO:050830	9.6	CD36, IL12A, MBL2, TNF, IL6
32	positive regulation of I-kappaB kinase/NF-kappaB cascade	GO:043123	9.5	CD40, CD36, TNF, IL1B, CCL21, CCR7
33	cell-cell signaling	GO:007267	9.4	IL7, CD86, CCL21, IL2, IL1B, IL17A
34	positive regulation of T cell proliferation	GO:042102	9.3	IL21, IFNG, CD28, IL12A, IL1B, IL4
35	positive regulation of interleukin-6 production	GO:032755	9.2	TLR9, IL1B, CD36, IL1A, IL6, TNF
36	positive regulation of membrane protein ectodomain proteolysis	GO:051044	9.2	IL1B, IFNG, TNF, TNFRSF1B
37	platelet activation	GO:030168	9.0	CD36, CD40, VAV1, CD40LG, SERPINA1, IL6
38	protein import into nucleus, translocation	GO:000060	8.9	TGFB1, BCL6, IFNG, TNF, TP53
39	anti-apoptosis	GO:006916	8.9	TNF, SOD1, IL10, IL1A, IL1B, IL2
40	response to glucocorticoid stimulus	GO:051384	8.9	IL6, FAS, IL1RN, IL1B, IL10, TNF
41	positive regulation of NF-kappaB transcription factor activity	GO:051092	8.7	TNF, TGFB1, PRKCQ, BTK, TLR9, CD40
42	virus-host interaction	GO:019048	8.6	CD247, FCGR2B, CX3CR1, TGFB1, TNFRSF1A, TP53
43	response to hypoxia	GO:001666	8.5	CX3CL1, ADA, PRKCQ, SCNN1B, SERPINA1, SCNN1G
44	response to drug	GO:042493	8.5	FAS, IL4, SOD1, IFNG, IL10, XBP1
45	signal transduction	GO:007165	8.3	TNFRSF17, CAMLG, MX1, CD70, CD83, TNFRSF8
46	negative regulation of apoptotic process	GO:043066	8.3	IL1RN, IL4, IL7, TP53, TNF, PLAUR
47	cytokine-mediated signaling pathway	GO:019221	8.0	CX3CL1, MX1, HLA-DQB1, B2M, IL12RB1, IL1B
48	inflammatory response	GO:006954	7.8	IL6, CCL21, CCR7, TNF, TNFRSF1A, TNFRSF1B
49	immune response	GO:006955	7.5	XBP1, CD70, CD86, FCGR2B, IL12A, IL17A
50	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.0	IL1B, IL2, IL6, IFNG, IL4, IL17A

Molecular functions related to common variable immunodeficiency according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	tumor necrosis factor receptor binding	GO:005164	10.4	TNFSF4, TNFSF13B, TNFSF13, TNF, CD40LG, CD70
2	ligand-gated sodium channel activity	GO:015280	10.3	SCNN1A, SCNN1B, SCNN1G
3	tumor necrosis factor-activated receptor activity	GO:005031	10.0	TNFRSF8, TNFRSF1B, TNFRSF1A, TNFRSF17, FAS
4	transmembrane signaling receptor activity	GO:004888	9.7	TNFRSF8, IL1R1, CD247, CD69, CD27, CD79A
5	receptor activity	GO:004872	9.6	PLAUR, TNFRSF17, TNFRSF13B, FAS, FCGRT, CD40
6	interleukin-1 receptor binding	GO:005149	9.5	TLR9, IL1RN, IL1B, IL1A
7	receptor binding	GO:005102	9.4	POMC, CX3CL1, TNFSF4, TNFSF13B, TNFSF13, HLA-B
8	protease binding	GO:002020	9.4	TNFRSF1A, TNF, TP53, IL1R1, CD70, CD28
9	growth factor activity	GO:008083	8.3	TGFB1, IL7, IL6, IL5, IL4, IL3
10	cytokine activity	GO:005125	8.1	CD70, IL5, IL6, IL7, IFNG, TNF
11	protein binding	GO:005515	4.2	HLA-A, TP53, TNF, TNFRSF13B, TNFRSF1A, AICDA