MCID: PRM097
MIFTS: 46

Primary Immunodeficiency Disease malady

Immune diseases category
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Summaries for Primary Immunodeficiency Disease

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Wikipedia:65 Primary immunodeficiencies are disorders in which part of the body\'s immune system is missing or does... more...

MalaCards based summary: Primary Immunodeficiency Disease, also known as immunologic deficiency syndromes, is related to neutropenia and brucellosis. An important gene associated with Primary Immunodeficiency Disease is FCGR3B (Fc fragment of IgG, low affinity IIIb, receptor (CD16b)), and among its related pathways are purine nucleotide salvage and Translocation of ZAP-70 to Immunological synapse. The drugs immunoglobulins and cytomegalovirus immune globulin and the compounds deoxyinosine and 9-(beta-d-arabinofuranosyl)guanine have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related mouse phenotypes are renal/urinary system and cellular.

Aliases & Classifications for Primary Immunodeficiency Disease

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Primary Immunodeficiency Disease, Aliases & Descriptions:

Name: Primary Immunodeficiency Disease 10
 
Immunologic Deficiency Syndromes 62


Classifications:

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


Related Diseases for Primary Immunodeficiency Disease

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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 94)
idRelated DiseaseScoreTop Affiliating Genes
1neutropenia29.6BLZF1, FCGR3B, FCGR3A, WAS, STAT3, CD40
2brucellosis10.5BLZF1
3purine nucleoside phosphorylase deficiency10.5ADA
4cd40 ligand deficiency10.4CD40LG
5cryptococcosis10.4CD4
6syphilis10.4CD4
7progressive multifocal leukoencephalopathy10.4CD4
8cryptosporidiosis10.4CD4
9histoplasmosis10.4CD4
10bruton-type agammaglobulinemia10.3CD40, WAS
11omenn syndrome10.3ADA, LIG4
12adenosine deaminase deficiency10.3ADA, PNP
13bullous pemphigoid10.3BLZF1, CIITA
14malignant spiradenoma10.3CD40, CD40LG
15cd40 deficiency10.3CD40, CD40LG
16immunodeficiency with hyper igm type 110.2CD40, CD40LG
17encephalitis10.2CIITA, CD4
18periodontal disease10.2CD4
19plasmacytoma10.2CIITA, CD40
20malaria10.2PNP, CD4
21hairy cell leukemia10.2ADA, CD40
22hematopoietic stem cell transplantation10.2
23herpes zoster10.2CD4, FCGR3A
24common variable immunodeficiency10.2CD40LG, CD40
25vasculitis10.2CD40LG, FCGR3B, BLZF1
26toxic shock syndrome10.2CIITA, CD4
27lyme disease10.2CD40LG, CIITA, BLZF1
28thyroiditis10.2CIITA, CD4
29myocarditis10.2CIITA, CD4
30autoimmune thyroiditis10.2PNP, CIITA, CD40
31lymphopenia10.2ADA, CIITA, PNP
32nephritis10.2CD40LG, FCGR3A, FCGR3B
33systemic scleroderma10.2FCGR3B, CIITA, CD40LG
34peritonitis10.2ADA, FCGR3B
35vaccinia10.1CD4, LIG4
36sepsis10.1CIITA, FCGR3A, FCGR3B, BLZF1
37infectious mononucleosis10.1CD4, CD40LG
38toxoplasmosis10.1CD4, CD40LG
39wiskott-aldrich syndrome10.1
40hodgkin's lymphoma10.1CD40, STAT3, BLZF1
41sjogren's syndrome10.1CIITA, CD40LG, CD40
42chronic myeloid leukemia10.1BLZF1, PNP, FCGR3B, ADA
43cutaneous t cell lymphoma10.1PNP, ADA, STAT3
44macroglobulinemia, waldenstrom, somatic10.1ADA, CD40LG, CD40
45schistosomiasis10.1CD40LG, CD4
46acute lymphoblastic leukemia10.0CD40, ADA, PNP
47inflammatory bowel disease10.0CIITA, STAT3, CD40
48measles10.0CIITA, CD4, CD40LG
49meningitis10.0ADA, CD4
50chronic lymphocytic leukemia10.0STAT3, CD40LG, CD40

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



Diseases related to primary immunodeficiency disease

Symptoms for Primary Immunodeficiency Disease

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Drugs & Therapeutics for Primary Immunodeficiency Disease

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Drug clinical trials:

Search ClinicalTrials for Primary Immunodeficiency Disease

Search NIH Clinical Center for Primary Immunodeficiency Disease

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Primary Immunodeficiency Disease

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Anatomical Context for Primary Immunodeficiency Disease

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MalaCards organs/tissues related to Primary Immunodeficiency Disease:

32
T cells, B cells

Animal Models for Primary Immunodeficiency Disease or affiliated genes

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MGI Mouse Phenotypes related to Primary Immunodeficiency Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.5PNP, WAS, ADA, STAT3, CD40LG, CD40
2MP:00053847.4WAS, LIG4, ADA, STAT3, CD4, CD40LG
3MP:00053907.2BLZF1, FCGR3A, WAS, ADA, STAT3, CD40LG
4MP:00053766.4WAS, CIITA, FCGR3A, PNP, LIG4, ADA
5MP:00053975.9CD40, PNP, FCGR3A, CIITA, WAS, LIG4
6MP:00053875.8WAS, CIITA, FCGR3A, PNP, LIG4, ADA

Publications for Primary Immunodeficiency Disease

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Articles related to Primary Immunodeficiency Disease:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Economic impact of infections among patients with primary immunodeficiency disease receiving IVIG therapy. (24959089)
2014
2
Emerging Paradigm of Primary Immunodeficiency Disease: Individualizing Immunoglobulin Dose and Delivery to Enhance Outcomes. (24477950)
2014
3
Calculating the dose of subcutaneous immunoglobulin for primary immunodeficiency disease in patients switched from intravenous to subcutaneous immunoglobulin without the use of a dose-adjustment coefficient. (24391400)
2013
4
Tolerance and autoimmunity in primary immunodeficiency disease: a comprehensive review. (23296947)
2013
5
Illustrative cases on individualizing immunoglobulin therapy in primary immunodeficiency disease. (24267400)
2013
6
Long-term efficacy, safety, and tolerability of HizentraAr for treatment of primary immunodeficiency disease. (24412910)
2013
7
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. (24240291)
2013
8
Supplement: Frontiers in Immunoglobulin Therapy of Primary Immunodeficiency Disease. (23797892)
2013
9
Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. (24332217)
2013
10
Evaluation of primary immunodeficiency disease in children. (23939499)
2013
11
Optimizing immunoglobulin treatment for patients with primary immunodeficiency disease to prevent pneumonia and infection incidence: review of the current data. (24267401)
2013
12
Modeling Primary Immunodeficiency Disease Epidemiology and Its Treatment to Estimate Latent Therapeutic Demand for Immunoglobulin. (24338563)
2013
13
Stem cell transplantation for primary immunodeficiency disease: experience of a singapore hospital. (23268471)
2012
14
Subcutaneous immunoglobulins: product characteristics and their role in primary immunodeficiency disease. (23215767)
2012
15
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. (22361515)
2012
16
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. (22927353)
2012
17
PIDO: the primary immunodeficiency disease ontology. (21949270)
2011
18
Wiskott-Aldrich Syndrome at the nexus of autoimmune and primary immunodeficiency diseases. (22036785)
2011
19
Efficacy, safety, and pharmacokinetics of a 10% liquid immune globulin preparation (GAMMAGARD LIQUID, 10%) administered subcutaneously in subjects with primary immunodeficiency disease. (21424824)
2011
20
The loss of the CD16 B73.1/Leu11c epitope occurring in some primary immunodeficiency diseases is not associated with the FcgammaRIIIa-48L/R/H polymorphism. (20664961)
2010
21
Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease. (20169031)
2010
22
Primary immunodeficiency disease: a model for case management of chronic diseases. (20032632)
2010
23
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. (20823128)
2010
24
Transplant outcomes for primary immunodeficiency disease. (20109615)
2010
25
TH17 cells and regulatory T cells in primary immunodeficiency diseases. (19410687)
2009
26
Clinical experience with Flebogamma 5% DIF: a new generation of intravenous immunoglobulins in patients with primary immunodeficiency disease. (19630866)
2009
27
Neutropenia and primary immunodeficiency diseases. (19811314)
2009
28
Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. (19801557)
2009
29
Biologic IgG level in primary immunodeficiency disease: the IgG level that protects against recurrent infection. (18602574)
2008
30
Hematopoietic stem cell transplantation for primary immunodeficiency disease. (17968328)
2008
31
Is it necessary to identify molecular defects in primary immunodeficiency disease? (18992927)
2008
32
Role of flow cytometry in the diagnosis and monitoring of primary immunodeficiency disease. (17658409)
2007
33
Stem cell transplantation in primary immunodeficiency disease patients. (18045274)
2007
34
Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. (16435016)
2006
35
Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease. (16573555)
2006
36
Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis. (15137474)
2004
37
Health-related quality of life of children with primary immunodeficiency disease: a comparison study. (15609765)
2004
38
Progressive encephalopathy in primary immunodeficiency disease. (11781060)
2002
39
Safety and availability of immunoglobulin replacement therapy in relation to potentially transmissable agents. IUIS Committee on Primary Immunodeficiency Disease. International Union of Immunological Societies. (10540201)
1999
40
Recent advances in the genetics of primary immunodeficiency disease. (10174624)
1997
41
Primary immunodeficiency disease presenting in midlife. (8971060)
1996
42
Proceedings of the Jeffrey Modell Immunodeficiency Symposium. Advances in Primary Immunodeficiency Disease. Paris, France, October 10-11, 1994. (7554456)
1995
43
Gene therapy for primary immunodeficiency disease. (1449789)
1992
44
Intravenous immune globulin for treating primary immunodeficiency disease. (3112495)
1987
45
Demonstration of Epstein-Barr virus in immunoblastic sarcoma of B-cells arising in a child with primary immunodeficiency disease. (2820254)
1987
46
'Pseudolymphoma'. A case associated with primary immunodeficiency disease and polyglandular failure syndrome. (6893912)
1981
47
In vitro and in vivo enhancement of mixed lymphocyte culture reactivity by thymosin in patients with primary immunodeficiency disease. (161150)
1979
48
Experiences with thymosin in primary immunodeficiency disease. (215306)
1978
49
Thymosin treatment of children with primary immunodeficiency disease. (305674)
1978
50
Meeting report of the Second International Workshop on Primary Immunodeficiency Disease in Man held in St. Petersburg, Florida, February, 1973. (4596971)
1974

Variations for Primary Immunodeficiency Disease

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Expression for genes affiliated with Primary Immunodeficiency Disease

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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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Pathways related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.7ADA, PNP
2
Show member pathways
9.7CD4, WAS
39.6CD40LG, CD40
49.6CD40LG, CD40
59.6CD40, CD40LG
6
Show member pathways
Immune response CD16 signaling in NK cells60
9.6FCGR3B, FCGR3A, WAS
79.6CIITA, FCGR3A, FCGR3B
89.3CD40, CD40LG, FCGR3A
9
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.2CD40LG, CD4, WAS
109.1CD4, STAT3
119.1CD4, CD40LG, CD40
12
Show member pathways
8.8CD4, STAT3, WAS
13
Show member pathways
8.8CD40, CD40LG, CD4, CIITA
14
Show member pathways
8.5BLZF1, FCGR3B, FCGR3A, CD40LG, CD40
15
Show member pathways
8.5FCGR3A, WAS, CD4, CD40LG, CD40
168.4CD40, CD40LG, CD4, ADA, CIITA
17
Show member pathways
8.3STAT3, CD4, CD40LG, CD40
18
Show member pathways
7.9FCGR3B, FCGR3A, CIITA, STAT3, CD40LG, CD40

Compounds for genes affiliated with Primary Immunodeficiency Disease

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Compounds related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1deoxyinosine44 2411.0ADA, PNP
29-(beta-d-arabinofuranosyl)guanine4410.0ADA, PNP
3nelarabine44 1110.9ADA, PNP
4daclizumab44 1110.8FCGR3B, CD40LG, FCGR3A
5alemtuzumab44 1110.8FCGR3B, CD40LG, FCGR3A
6pentostatin44 61 28 1112.7PNP, ADA
72,3-dideoxyadenosine449.6ADA, PNP
82-chlorodeoxyadenosine449.6CD40LG, ADA, PNP
9ivig449.6FCGR3A, CD40, CD40LG
10didanosine44 50 1111.6CD4, ADA, PNP
11cytidine44 24 1111.5CD40, CD40LG, ADA
12abciximab44 1110.5CD40, CD40LG, FCGR3A, FCGR3B
13dextran sulfate449.5CIITA, CD4, CD40LG
14guanosine44 24 1111.4BLZF1, ADA, PNP
15fludarabine44 50 1111.3CD40, ADA, PNP, CD40LG
16polyinosinic-polycytidylic acid449.3CD40, STAT3, CIITA
17allergens449.2CD40, BLZF1, CIITA, CD40LG
18ganglioside449.2CIITA, CD40LG, CD40, CD4
19herbimycin a44 6110.2CD40, CD4, CD40LG, FCGR3A
20mannose449.1FCGR3B, CIITA, FCGR3A, CD40, CD4
21neopterin449.1CD40LG, CD40, CD4, ADA
22ribavirin44 50 1110.9ADA, CD40LG, STAT3, PNP
23phenylalanine448.8STAT3, CIITA, FCGR3A, BLZF1
24wortmannin448.8CD40, WAS, LIG4, STAT3
25adenylate448.7CD40LG, BLZF1, PNP, ADA, CD40
26rituximab44 50 1110.7CD40, FCGR3B, CD40LG, FCGR3A, STAT3
27rapamycin448.6STAT3, CD40, WAS, PNP, CD40LG
28gtp44 289.6BLZF1, CIITA, STAT3, WAS, PNP
29aspartate448.5PNP, LIG4, CD40LG, STAT3, ADA
30lipid448.5CD40, CD4, FCGR3B, WAS, CIITA, BLZF1
31rantes448.4CIITA, CD40, CD40LG, STAT3, CD4
32doxorubicin44 50 1110.4CD40, STAT3, ADA, CD40LG
33phosphotyrosine448.4STAT3, BLZF1, FCGR3A, CIITA, CD4
34actinomycin d448.4BLZF1, CIITA, CD40LG, STAT3, CD40
35pge2448.4STAT3, CD4, CD40LG, CD40, CIITA
36dexamethasone44 50 28 1111.3CD40, CD40LG, STAT3, ADA, CIITA
37cycloheximide448.3STAT3, CIITA, BLZF1, CD4, CD40
38adp44 28 2410.2WAS, CD40LG, CD40, PNP, BLZF1
39h2o2448.1FCGR3B, ADA, BLZF1, STAT3, CD40, PNP
40arginine448.1CD40LG, STAT3, ADA, FCGR3A, BLZF1
41calcium44 50 24 1111.0CD40, BLZF1, FCGR3B, FCGR3A, CIITA, WAS
42cyclosporin a44 28 6110.0ADA, CD40LG, STAT3, CIITA, CD40, BLZF1
43glutamate448.0PNP, LIG4, ADA, CD4, BLZF1, CD40LG
44cholesterol44 28 24 1111.0CD40, CD4, STAT3, CIITA, FCGR3A, BLZF1
45genistein44 28 61 2 24 1113.0CD4, CD40, CD40LG, STAT3, FCGR3B, BLZF1
46alanine447.3BLZF1, ADA, CD40LG, CD4, STAT3, LIG4
47phosphatidylinositol447.3WAS, FCGR3B, BLZF1, LIG4, STAT3, CD4
48tyrosine447.2FCGR3A, CD4, CD40, BLZF1, PNP, FCGR3B
49cysteine447.2BLZF1, PNP, CIITA, ADA, CD4, CD40LG
50serine447.0CD40LG, CD40, CD4, PNP, FCGR3B, CIITA

GO Terms for genes affiliated with Primary Immunodeficiency Disease

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.1FCGR3A, ADA, CD4, CD40LG, CD40
2plasma membraneGO:0058867.0FCGR3B, FCGR3A, LIG4, ADA, STAT3, CD4

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:04663810.0ADA, PNP
2isotype switchingGO:0451909.9LIG4, CD40LG
3purine-containing compound salvageGO:0431019.9ADA, PNP
4regulation of immunoglobulin secretionGO:0510239.9CD40, CD40LG
5positive regulation of endothelial cell apoptotic processGO:20003539.9CD40, CD40LG
6positive regulation of interleukin-12 productionGO:0327359.8CD40, CD40LG
7B cell proliferationGO:0421009.7CD40, CD40LG
8positive regulation of calcium-mediated signalingGO:0508509.7CD4, ADA
9positive regulation of B cell proliferationGO:0308909.7ADA, CD40
10purine nucleobase metabolic processGO:0061449.6ADA, PNP
11regulation of immune responseGO:0507769.6FCGR3A, CD40LG, CD40
12T cell activationGO:0421109.5ADA, WAS
13inflammatory responseGO:0069549.3CD40, CD40LG, CIITA
14immune responseGO:0069558.7CD4, WAS, CIITA, FCGR3A, FCGR3B, PNP

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

idNameGO IDScoreTop Affiliating Genes
1IgG bindingGO:0198649.8FCGR3A, FCGR3B
2enzyme bindingGO:0198998.8CD40, CD4, BLZF1
3protein bindingGO:0055156.9WAS, LIG4, ADA, DOCK8, STAT3, CD4

Products for genes affiliated with Primary Immunodeficiency Disease

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet