CVID
MCID: IMM060
MIFTS: 48

Immunodeficiency, Common Variable, 9 (CVID) malady

Immune diseases, Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Immunodeficiency, Common Variable, 9

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47OMIM, 33MalaCards
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MalaCards: Immunodeficiency, Common Variable, 9, also known as autoimmune lymphoproliferative syndrome, is related to common variable immune deficiency and systemic lupus erythematosus, and has symptoms including hemolytic anemia, autosomal recessive inheritance and emphysema. An important gene associated with Immunodeficiency, Common Variable, 9 is PRKCD (protein kinase C, delta), and among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Development VEGF signaling and activation. The compounds hematoxylin and baff have been mentioned in the context of this disorder. Affiliated tissues include b cells and liver, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:47 615559, 146830, 240500, 607594, 613493 613494, 613495, 613496, 614699, 614700, 615577 more

Aliases & Classifications for Immunodeficiency, Common Variable, 9

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62UMLS, 49Orphanet, 47OMIM, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

49
idiopathic immunoglobulin deficiency:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

immunodeficiency, common variable, 9 47
autoimmune lymphoproliferative syndrome 62
idiopathic immunoglobulin deficiency 49
common variable immunodeficiency 49
primary hypogammaglobulinemia 49
primary antibody deficiency 49
cvid 49


External Ids:

MESH via Orphanet36 D017074
SNOMED-CT via Orphanet59 23238000
ICD10 via Orphanet26 D83.0, D83.1, D83.2 D83.8, D83.9, more
UMLS via Orphanet63 C0009447
ICD1025 D80.6

Related Diseases for Immunodeficiency, Common Variable, 9

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17GeneCards, 18GeneDecks
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Diseases related to Immunodeficiency, Common Variable, 9 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 190)
idRelated DiseaseScoreTop Affiliating Genes
1common variable immune deficiency30.6TNFRSF13B, TNFRSF13C, ICOS
2systemic lupus erythematosus30.5CR2, ICOS, TNFRSF13C
3b-cell lymphomas30.2TNFRSF13C, MS4A1, CR2, NFKB2, CD19, CD81
4non-hodgkin lymphoma29.9CD19, CR2, MS4A1, TNFRSF13C, TNFRSF13B
5common variable immunodeficiency11.5
6pneumonia10.6
7common variable immunodeficiency due to an intrinsic t cell defect10.6
8hepatitis10.5
9purpura10.5
10hemolytic anemia10.5
11interstitial lung disease10.5
12retinitis10.5
13bronchiectasis10.4
14autoimmune hemolytic anemia10.4
15arthritis10.4
16meningitis10.4
17sarcoidosis10.4
18hepatitis c10.4
19agammaglobulinemia10.4
20lupus erythematosus10.4
21evans' syndrome10.3
22autoimmune lymphoproliferative syndrome10.3
23strongyloidiasis10.3
24celiac disease10.3
25alopecia10.3
26amyloidosis10.3
27asthma10.3
28diarrhea10.3
29encephalitis10.3
30herpes simplex10.3
31influenza10.3
32t cell deficiency10.3
33uveitis10.3
34nodular regenerative hyperplasia10.3
35immunodeficiency, common variable, 110.3
36crohn's disease10.2
37myelitis10.2
38autoimmune thrombocytopenic purpura10.2
39bronchiolitis10.2
40giardiasis10.2
41progressive multifocal leukoencephalopathy10.2
42duodenitis10.2
43epidermodysplasia verruciformis10.2
44inclusion body myositis10.2
45aseptic meningitis10.2
46vitiligo10.2
47diffuse large b-cell lymphoma10.2
48hodgkin's lymphoma10.2
49hypertension10.2
50inflammatory bowel disease10.2

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 9:



Diseases related to immunodeficiency, common variable, 9

Symptoms for Immunodeficiency, Common Variable, 9

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

615559

Clinical features from OMIM:

615559, 146830, 240500, 607594, 613493, 613494, 613495, 613496, 614699, 614700 615577 more

Symptoms:

49 (show all 27)
  • hemolytic anemia
  • autosomal recessive inheritance
  • emphysema
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • vascularitis/vasculitides/arteritis
  • articular/joint pain/arthralgia
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • gastrointestinal stromal tumor
  • lymphoma
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • lymphadenopathy/polyadenopathies
  • bronchial dilation/dilatation/bronchiectasia
  • splenomegaly
  • chronic/relapsing otitis
  • repeat respiratory infections
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • leukopenia/hypoleukocytosis
  • lymphopenia
  • thrombocytopenia/thrombopenia
  • autosomal dominant inheritance
  • purpura/petichiae
  • malabsorption/chronic diarrhea/steatorrhea
  • structural anomalies of the liver and the biliary tract
  • abnormal hepatic enzymes/transaminases
  • nasal congestion/sinusitis/rhinitis/rhinorrhea

Drugs & Therapeutics for Immunodeficiency, Common Variable, 9

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Immunodeficiency, Common Variable, 9

Search NIH Clinical Center for Immunodeficiency, Common Variable, 9

Genetic Tests for Immunodeficiency, Common Variable, 9

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Anatomical Context for Immunodeficiency, Common Variable, 9

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33MalaCards
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MalaCards organs/tissues related to Immunodeficiency, Common Variable, 9:

33
B cells, Liver

Animal Models for Immunodeficiency, Common Variable, 9 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Immunodeficiency, Common Variable, 9:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7CD19, NFKB2, PRKCD, TNFRSF13B
2MP:00053678.0TNFRSF13B, PRKCD, CR2, NFKB2, CD19
3MP:00053766.9TNFRSF13B, TNFRSF13C, PRKCD, ICOS, CR2, NFKB2
4MP:00053976.1CD81, TNFRSF13B, TNFRSF13C, TNFSF12, PRKCD, MS4A1
5MP:00053876.0TNFRSF13B, TNFRSF13C, TNFSF12, PRKCD, MS4A1, ICOS

Publications for Immunodeficiency, Common Variable, 9

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Variations for Immunodeficiency, Common Variable, 9

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Immunodeficiency, Common Variable, 9:

1
id Gene Name Type Significance SNP ID Assembly Location
1FASLGNM_000639.1(FASLG): c.472_555del84 (p.Met158_Glu185del)deletionPathogenicrs80358236GRCh37Chr 1, 172634782: 172634865
2FASLGNM_000639.1(FASLG): c.466A> G (p.Arg156Gly)single nucleotide variantPathogenicrs80358238GRCh37Chr 1, 172634776: 172634776
3FASLGNM_000639.1(FASLG): c.740C> A (p.Ala247Glu)single nucleotide variantPathogenicrs80358237GRCh37Chr 1, 172635050: 172635050
4PRKCDNM_006254.3(PRKCD): c.1352+1G> Asingle nucleotide variantPathogenicrs398122958GRCh37Chr 3, 53220712: 53220712

Expression for genes affiliated with Immunodeficiency, Common Variable, 9

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Immunodeficiency, Common Variable, 9

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 9.

Pathways for genes affiliated with Immunodeficiency, Common Variable, 9

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Sources:
50PathCards, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems, 57SinoBiological
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Pathways related to Immunodeficiency, Common Variable, 9 according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CD81, CD19
2
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.8PRKCD, NFKB2
39.6TNFSF12, NFKB2
49.5NFKB2, TNFRSF13C
59.4NFKB2, CR2, CD19
69.4TNFRSF13B, PRKCD
79.4PRKCD, TNFRSF13B
89.3CD19, MS4A1, CR2
9
Show member pathways
9.2PRKCD, NFKB2, TNFRSF13C
10
Show member pathways
9.2PRKCD, CR2, CD81, CD19
119.2PRKCD, CD81, CR2, CD19
12
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
8.9CD19, NFKB2, CR2, CD81, PRKCD
13
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
8.8TNFRSF13B, NFKB2, TNFSF12
14
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.8PRKCD, CR2, CD81, CD19, ICOS
15
Show member pathways
8.6TNFRSF13C, TNFRSF13B, ICOS
16
Show member pathways
8.5TNFSF12, TNFRSF13B, TNFRSF13C
17
Show member pathways
RANKL/RANK Signaling Pathway38
Apoptosis and survival APRIL and BAFF signaling60
8.3NFKB2, CR2, TNFRSF13B, TNFRSF13C
188.3TNFRSF13C, TNFRSF13B, CD19, ICOS
19
Show member pathways
8.2TNFRSF13B, PRKCD, TNFSF12, TNFRSF13C
20
Show member pathways
8.2TNFSF12, PRKCD, TNFRSF13C, TNFRSF13B
21
Show member pathways
8.2TNFRSF13C, TNFRSF13B, TNFSF12, PRKCD
22
Show member pathways
8.2TNFRSF13C, TNFRSF13B, PRKCD, TNFSF12
23
Show member pathways
8.2PRKCD, TNFSF12, TNFRSF13C, TNFRSF13B

Compounds for genes affiliated with Immunodeficiency, Common Variable, 9

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Sources:
45Novoseek, 29IUPHAR, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Immunodeficiency, Common Variable, 9 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hematoxylin459.3MS4A1, CR2
2baff299.2TNFRSF13C, TNFRSF13B
3lipid459.1CD81, CD19, MS4A1, PRKCD
4bcma459.1TNFRSF13C, TNFRSF13B
5phosphatidylinositol459.1CD81, CD19, CR2, PRKCD
6blys459.0TNFRSF13B, TNFRSF13C
7calcium45 51 24 1110.4TNFRSF13B, TNFRSF13C, PRKCD, MS4A1, CR2, CD19

GO Terms for genes affiliated with Immunodeficiency, Common Variable, 9

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16Gene Ontology
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Cellular components related to Immunodeficiency, Common Variable, 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.4CD81, CD19, CR2, MS4A1, PRKCD
2plasma membraneGO:0058868.3LRBA, PRKCD, ICOS, CR2, CD19, CD81
3integral component of plasma membraneGO:0058877.5TNFSF12, MS4A1, ICOS, CD19, CD81, TNFRSF13B
4external side of plasma membraneGO:0098977.5MS4A1, ICOS, CR2, CD19, TNFRSF13C, TNFRSF13B

Biological processes related to Immunodeficiency, Common Variable, 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of immune responseGO:0507769.9CD81, CD19
2B cell proliferationGO:0421009.5MS4A1, PRKCD, CR2
3innate immune responseGO:0450879.2CD19, PRKCD, CR2, NFKB2
4T cell costimulationGO:0312959.1TNFRSF13C, ICOS
5B cell homeostasisGO:0017829.1TNFRSF13C, TNFRSF13B
6immune responseGO:0069559.1TNFSF12, CR2, ICOS

Molecular functions related to Immunodeficiency, Common Variable, 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complex bindingGO:0230269.7CD81, MS4A1

Products for genes affiliated with Immunodeficiency, Common Variable, 9

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Immunodeficiency, Common Variable, 9

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet