MCID: PRM097
MIFTS: 40

Primary Immunodeficiency Disease malady

Immune diseases category

Summaries for Primary Immunodeficiency Disease

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63Wikipedia, 32MalaCards
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Wikipedia:63 Primary immunodeficiencies are disorders in which part of the body\'s immune system is missing or does... more...

MalaCards: Primary Immunodeficiency Disease, also known as immunologic deficiency syndromes, is related to wiskott-aldrich syndrome and agammaglobulinemia. An important gene associated with Primary Immunodeficiency Disease is CD19 (CD19 molecule), and among its related pathways are Malaria and Cytokines and Inflammatory Response. The drugs cytomegalovirus immune globulin and immunoglobulins and the compounds cycloheximide and amphotericin b have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Primary Immunodeficiency Disease

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10DISEASES, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

primary immunodeficiency disease 10
immunologic deficiency syndromes 60


Related Diseases for Primary Immunodeficiency Disease

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17GeneCards, 18GeneDecks
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Diseases related to Primary Immunodeficiency Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1wiskott-aldrich syndrome30.2BLZF1, WAS
2agammaglobulinemia29.9IL4, CD40LG, CD40
3pneumonia29.9CD40, CD4
4candidiasis29.9IFNG, CD4
5sarcoma29.9ADA, PTPRC, CD4
6neutropenia29.9WAS, STAT3, BLZF1, CD40, FCGR3B, FCGR3A
7ipex syndrome29.9IFNG, WAS, ADA, PTPRC, PNP, FCGR3A
8good syndrome10.0
9albinism immunodeficiency10.0
10alopecia immunodeficiency10.0
11autosomal recessive hyper ige syndrome10.0
12immunodeficiency without anhidrotic ectodermal dysplasia10.0
13leukocyte adhesion deficiency type 110.0
14immunodeficiency 1110.0
15immunodeficiency 1510.0
16immunodeficiency 1010.0
17immunodeficiency 910.0
18immunodeficiency 810.0
19immunodeficiency 1310.0
20immunodeficiency 1210.0
21infantile autosomal recessive medullary cystic kidney disease10.0
22macroglobulinemia10.0CD19
23gastrointestinal system disease10.0CD19
24systemic lupus erythematosus10.0FCGR3B
25pemphigus10.0BLZF1
26brucellosis10.0BLZF1
27lupus erythematosus10.0CD40LG
28celiac disease10.0CIITA
29kawasaki disease10.0CIITA
30human immunodeficiency virus infectious disease10.0CD38
31guillain-barre syndrome10.0CD40LG
32neuritis10.0CIITA
33wegener's granulomatosis10.0CIITA
34gout10.0PNP
35cryoglobulinemic vasculitis10.0CD40LG
36glomerulonephritis10.0CD40LG
37dermatomyositis10.0CD40
38autoimmune hemolytic anemia10.0CD40LG
39hyper ige syndrome10.0STAT3
40cryoglobulinemia10.0CD40LG
41cryptococcosis10.0CD4
42acquired immunodeficiency syndrome10.0CD4
43hepatitis e10.0CD40LG
44nephrotic syndrome10.0PTPRC
45lung cancer10.0CD4
46polymyositis10.0CD40
47fanconi's anemia10.0BLZF1, LIG4
48ovarian cancer10.0STAT3
49lymphatic system disease10.0CD4
50myocardial infarction10.0BLZF1, CIITA

Graphical network of the top 20 diseases related to Primary Immunodeficiency Disease:



Diseases related to primary immunodeficiency disease

Clinical Features for Primary Immunodeficiency Disease

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Drugs & Therapeutics for Primary Immunodeficiency Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Primary Immunodeficiency Disease

Drug clinical trials:

Search ClinicalTrials for Primary Immunodeficiency Disease

Search NIH Clinical Center for Primary Immunodeficiency Disease

Search CenterWatch for Primary Immunodeficiency Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Primary Immunodeficiency Disease

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Anatomical Context for Primary Immunodeficiency Disease

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Animal Models for Primary Immunodeficiency Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Immunodeficiency Disease:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.2PNP, WAS
2MP:00020068.9IFNG, WAS, CD19, PTPRC
3MP:00107718.8CD40LG, CD4, CD19, STAT3, XRCC4
4MP:00036318.7XRCC4, STAT3, LIG4, CD40LG, CD8A, PTPRC
5MP:00053908.1WAS, STAT3, BLZF1, CD40, CD40LG, IL4
6MP:00053817.5IFNG, WAS, STAT3, LIG4, CD19, CD4
7MP:00053707.5IFNG, STAT3, LIG4, CD19, IL4, PTPRC
8MP:00053797.3IFNG, XRCC4, WAS, STAT3, CIITA, CD40LG
9MP:00028736.9IFNG, STAT3, CIITA, CD40, CD19, CD4
10MP:00053846.2LIG4, CIITA, DOCK8, STAT3, WAS, XRCC4
11MP:00107686.1IFNG, XRCC4, STAT3, LIG4, CD19, CD4
12MP:00053765.4CD40, LIG4, CIITA, STAT3, WAS, XRCC4
13MP:00053975.0LIG4, CIITA, DOCK8, STAT3, WAS, XRCC4
14MP:00053874.5ADA, IFNG, XRCC4, WAS, STAT3, DOCK8

Publications for Primary Immunodeficiency Disease

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Genetic Variations for Primary Immunodeficiency Disease

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Expression for genes affiliated with Primary Immunodeficiency Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Immunodeficiency Disease

Search GEO for disease gene expression data for Primary Immunodeficiency Disease.

Pathways for genes affiliated with Primary Immunodeficiency Disease

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Sources:
29KEGG, 37NCBI BioSystems Database, 52R&D Systems, 53Reactome, 51QIAGEN, 4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CD40
210.1CD4
310.1CD4
4
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10.0ADA, PNP
5
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9.8LIG4, XRCC4
6
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9.7CD40, CD4
79.7PTPRC, FCGR3A, WAS
89.5PTPRC, CD40LG, CD40
9
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9.5WAS, CD4, PTPRC
10
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9.5PTPRC, CD4, WAS
11
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9.4XRCC4, LIG4, CD4
129.4IL4, CD40LG, CD40
139.4PTPRC, CD19, STAT3, WAS
149.3PTPRC, CD4, STAT3
15
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9.2CD40, CD19, CD40LG, CD8A, FCGR3A
16
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9.2PTPRC, CD8A, CD4, WAS
179.1ADA, CD8A, CD4, CD19, CIITA
189.0FCGR3A, FCGR3B, CIITA, IFNG
198.9IFNG, STAT3, CD4
20
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8.9CD4, STAT3, IFNG
21
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8.9IFNG, CD40LG, IL4
228.8PTPRC, CD8A, CD40LG, CD4, CD40
23
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8.8PTPRC, CD8A, CD4, STAT3, WAS
24
Development Thrombopoetin signaling via JAK-STAT pathway
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8.8IFNG, STAT3, IL4
258.8CD19, CD4, CD38, CD8A, IL4
26
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8.7IFNG, CD40, CD40LG, FCGR3B, FCGR3A
278.6IFNG, CD40, CD40LG, IL4
288.5IFNG, STAT3, CD40, CD19, CD38
298.5CIITA, CD19, CD4, CD8A, IL4, PTPRC
30
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8.2IFNG, STAT3, CD19, IL4, PTPRC
31
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8.1IFNG, STAT3, CD4, CD8A, IL4
32
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8.0IFNG, WAS, CD19, IL4, FCGR3B, FCGR3A
33
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7.6IFNG, CIITA, CD40, CD4, CD40LG, CD8A
34
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7.6IFNG, STAT3, CIITA, CD40, CD40LG, IL4
35
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7.4IFNG, WAS, CD19, CD4, CD40LG, CD8A
36
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7.4IFNG, WAS, STAT3, CIITA, CD40, CD19

Compounds for genes affiliated with Primary Immunodeficiency Disease

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 107)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.5CD4
2amphotericin b4410.5ADA
3pge24410.5CD4
4daclizumab44 1111.2CD40LG, FCGR3B, FCGR3A
5alemtuzumab44 1111.1FCGR3B, CD40LG, FCGR3A
6abciximab44 1110.9CD40, CD40LG, FCGR3B, FCGR3A
7didanosine44 1110.8PNP, ADA, CD4
8polynucleotide449.7LIG4, XRCC4, PNP
9hemocyanin449.6CD4, CD40LG, IL4
10glutamate449.6BLZF1, PNP, ADA, CD40LG
11natalizumab44 1110.5FCGR3A, FCGR3B, IFNG
12fludarabine44 1110.5PNP, CD38, CD40LG, CD40, ADA
13tuberculin449.5ADA, CD40LG, IFNG
14mannose449.5CD40, CIITA, FCGR3A, FCGR3B, CD4
15serine449.4CIITA, WAS, FCGR3B, STAT3, CD4
16adalimumab44 49 1111.4IFNG, FCGR3A, FCGR3B
17dithiothreitol449.3PTPRC, CD40, PNP, CD38
18rituximab44 49 1111.3FCGR3A, STAT3, CD40, CD40LG, CD38, FCGR3B
19glatiramer acetate44 1110.2CIITA, IL4, IFNG
20dexamethasone44 49 28 1112.2CIITA, PTPRC, STAT3, CD40LG, CD38, ADA
21h2o2449.1PNP, BLZF1, PTPRC, FCGR3B, CD40
22ganglioside449.0CD38, CD4, CIITA, PTPRC, CD40LG, CD40
23il-12449.0CD40LG, IL4, IFNG
24okt3448.9IFNG, CD40LG, IL4
25il 10448.9IFNG, IL4, CD40, CD8A
26biotin44 11 2410.8IL4, CD40LG, CD40, ADA
27ivig448.8IFNG, FCGR3A, IL4, CD40LG, CD40
28phosphotyrosine448.8STAT3, BLZF1, FCGR3A, PTPRC, CD4, CIITA
29n acetylcysteine448.7STAT3, IL4, PTPRC, CD40, CD40LG
30polyinosinic-polycytidylic acid448.7CIITA, IFNG, STAT3, CD40, IL4
31rapamycin448.6WAS, PNP, CD40LG, CD40, STAT3, IFNG
32ribavirin44 49 1110.5STAT3, ADA, PNP, IL4, CD40LG, IFNG
33ionomycin448.4IFNG, IL4, WAS, CD40, CD40LG, PTPRC
34histamine44 28 2410.3ADA, PTPRC, IL4, CD40, IFNG, CD40LG
35allergens448.2CD40, CD40LG, BLZF1, CIITA, IFNG, IL4
36adenylate448.2BLZF1, CD40, CD40LG, IL4, PNP, ADA
37thymidine44 249.2PNP, STAT3, IFNG, CIITA, CD40, IL4
38lipid448.1CD38, BLZF1, WAS, CD19, CD40, CD4
39neopterin448.1CD40LG, CD38, IL4, ADA, CD40, IFNG
40herbimycin a44 599.0PTPRC, FCGR3A, IL4, CD40LG, CD4, CD40
41rantes448.0CD40, IL4, CD40LG, CD4, IFNG, CIITA
42alanine447.9ADA, LIG4, STAT3, XRCC4, PNP, CIITA
43arginine447.8CD40LG, IFNG, BLZF1, IL4, ADA, STAT3
44genistein44 28 59 2 11 2412.7CD40, CD4, CD40LG, FCGR3B, IFNG, STAT3
45actinomycin d447.6CD40, BLZF1, IL4, CD38, STAT3, CD40LG
46calcium44 49 11 2410.5BLZF1, CIITA, CD19, FCGR3B, FCGR3A, CD4
47phosphatidylinositol447.4CD40, FCGR3A, PTPRC, FCGR3B, CD38, CD19
48cyclosporin a44 28 599.3CD40, CIITA, ADA, STAT3, IFNG, BLZF1
49tyrosine446.5PNP, FCGR3A, IL4, CD8A, CD38, CD4
50cysteine446.3ADA, IFNG, STAT3, CIITA, BLZF1, PTPRC

GO Terms for genes affiliated with Primary Immunodeficiency Disease

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16Gene Ontology
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Cellular components related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA ligase IV complexGO:0328079.8XRCC4, LIG4
2T cell receptor complexGO:0421019.8CD8A, CD4
3DNA-dependent protein kinase-DNA ligase 4 complexGO:0059589.7LIG4, XRCC4
4nonhomologous end joining complexGO:0704199.5LIG4, XRCC4
5plasma membraneGO:0058867.2CD4, CD19, CD40, LIG4, STAT3, CD40LG
6external side of plasma membraneGO:0098977.0ADA, IFNG, CD40, CD19, CD4, CD40LG

Biological processes related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1regulation of immunoglobulin secretionGO:05102310.2CD40, CD40LG
2pro-B cell differentiationGO:00232810.0XRCC4, LIG4
3immunoglobulin V(D)J recombinationGO:03315210.0LIG4, XRCC4
4DNA ligation involved in DNA repairGO:05110310.0LIG4, XRCC4
5positive regulation of endothelial cell apoptotic processGO:200035310.0CD40, CD40LG
6T cell activationGO:04211010.0WAS, CD8A, ADA
7establishment of integrated proviral latencyGO:07571310.0XRCC4, LIG4
8positive regulation of alpha-beta T cell differentiationGO:04663810.0PNP, ADA
9purine-containing compound salvageGO:04310110.0ADA, PNP
10B cell receptor signaling pathwayGO:0508539.9PTPRC, CD38, CD19
11isotype switchingGO:0451909.9XRCC4, LIG4, CD40LG
12B cell proliferationGO:0421009.9PTPRC, CD40LG, CD40
13positive regulation of calcium-mediated signalingGO:0508509.8ADA, CD8A, CD4
14positive regulation of interleukin-12 productionGO:0327359.4CD40LG, CD40, IFNG
15positive regulation of MHC class II biosynthetic processGO:0453489.3IL4, CIITA, IFNG
16positive regulation of chemokine biosynthetic processGO:0450809.2IFNG, IL4
17positive regulation of tyrosine phosphorylation of Stat1 proteinGO:0425119.2IFNG, CD40
18T cell receptor signaling pathwayGO:0508529.2PTPRC, CD4, WAS
19positive regulation of isotype switching to IgG isotypesGO:0483049.2IFNG, CD40, IL4
20positive regulation of B cell proliferationGO:0308909.1CD40, CD38, IL4, PTPRC, ADA
21regulation of immune responseGO:0507769.1FCGR3A, IL4, CD8A, CD40LG, CD19, CD40
22defense response to virusGO:0516078.9IFNG, CD40, CD8A, PTPRC
23cell surface receptor signaling pathwayGO:0071668.9PTPRC, CD4, CD19, IFNG
24positive regulation of T cell proliferationGO:0421028.8IFNG, IL4, PNP, PTPRC
25response to drugGO:0424938.5IFNG, STAT3, CD38, IL4, PNP
26immune responseGO:0069558.5PNP, WAS, CIITA, CD4, CD8A, IL4

Molecular functions related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1IgG bindingGO:0198649.8FCGR3A, FCGR3B
2protein kinase bindingGO:0199019.0PTPRC, CD8A, CD4, STAT3

Products for genes affiliated with Primary Immunodeficiency Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Immunodeficiency Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet