MCID: PRM097
MIFTS: 36

Primary Immunodeficiency Disease malady

Immune diseases category

Aliases & Classifications for Primary Immunodeficiency Disease

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Primary Immunodeficiency Disease, Aliases & Descriptions:

Name: Primary Immunodeficiency Disease 11
 
Primary Immune Deficiency Disorder 60


Classifications:

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


Summaries for Primary Immunodeficiency Disease

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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 based summary: Primary Immunodeficiency Disease, also known as primary immune deficiency disorder, 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 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.

Related Diseases for Primary Immunodeficiency Disease

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Diseases related to Primary Immunodeficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1neutropenia29.6FCGR3A, FCGR3B, WAS, CD40, STAT3, BLZF1
2brucellosis10.5BLZF1
3immunodeficiency due to purine nucleoside phosphorylase deficiency10.4ADA
4x-linked hyper igm syndrome10.4CD40LG
5cryptococcosis10.4CD4
6syphilis10.4CD4
7progressive multifocal leukoencephalopathy10.4CD4
8cryptosporidiosis10.4CD4
9histoplasmosis10.3CD4
10agammaglobulinemia, x-linked 110.3WAS, CD40
11omenn syndrome10.3LIG4, ADA
12adenosine deaminase deficiency10.3ADA, PNP
13bullous pemphigoid10.3BLZF1, CIITA
14malignant spiradenoma10.3CD40, CD40LG
15cd40 deficiency10.3CD40LG, CD40
16immunodeficiency, x-linked, with hyper-igm10.2CD40LG, CD40
17encephalitis10.2CIITA, CD4
18agammaglobulinemia10.2CD40, CD40LG
19periodontal disease10.2CD4
20plasmacytoma10.2CD40, CIITA
21hematopoietic stem cell transplantation10.2
22malaria10.2PNP, CD4
23hcl-v10.2ADA, CD40
24herpes zoster10.2CD4, FCGR3A
25vasculitis10.2BLZF1, FCGR3B, CD40LG
26common variable immunodeficiency10.2CD40, CD40LG
27thyroiditis10.2CIITA, CD4
28lyme disease10.2CIITA, CD40LG, BLZF1
29toxic shock syndrome10.2CIITA, CD4
30myocarditis10.2CD4, CIITA
31hashimoto thyroiditis10.2PNP, CIITA, CD40
32nephritis10.2CD40LG, FCGR3A, FCGR3B
33lymphopenia10.2CIITA, ADA, PNP
34systemic scleroderma10.2CD40LG, FCGR3B, CIITA
35peritonitis10.1FCGR3B, ADA
36vaccinia10.1CD4, LIG4
37wiskott-aldrich syndrome10.1
38pfeiffer syndrome10.1CD40LG, CD4
39toxoplasmosis10.1CD4, CD40LG
40hodgkin lymphoma10.1STAT3, BLZF1, CD40
41sjogren's syndrome10.1CD40, CD40LG, CIITA
42leukemia, chronic myeloid10.1BLZF1, FCGR3B, PNP, ADA
43cutaneous t cell lymphoma10.1PNP, ADA, STAT3
44waldenstrom macroglobulinemia10.1CD40LG, CD40, ADA
45schistosomiasis10.0CD4, CD40LG
46leukemia, acute lymphoblastic10.0PNP, ADA, CD40
47inflammatory bowel disease10.0CD40, STAT3, CIITA
48measles10.0CD4, CD40LG, CIITA
49chronic lymphocytic leukemia10.0STAT3, CD40LG, CD40
50precursor t-cell acute lymphoblastic leukemia10.0PNP, CD4, ADA

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

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:

31
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:

35
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 58)
idTitleAuthorsYear
1
Economic impact of infections among patients with primary immunodeficiency disease receiving IVIG therapy. (24959089)
2014
2
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
3
Tolerance and autoimmunity in primary immunodeficiency disease: a comprehensive review. (23296947)
2013
4
Illustrative cases on individualizing immunoglobulin therapy in primary immunodeficiency disease. (24267400)
2013
5
Long-term efficacy, safety, and tolerability of HizentraAr for treatment of primary immunodeficiency disease. (24412910)
2013
6
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. (24240291)
2013
7
Supplement: Frontiers in Immunoglobulin Therapy of Primary Immunodeficiency Disease. (23797892)
2013
8
Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. (24332217)
2013
9
Evaluation of primary immunodeficiency disease in children. (23939499)
2013
10
Optimizing immunoglobulin treatment for patients with primary immunodeficiency disease to prevent pneumonia and infection incidence: review of the current data. (24267401)
2013
11
Stem cell transplantation for primary immunodeficiency disease: experience of a singapore hospital. (23268471)
2012
12
Subcutaneous immunoglobulins: product characteristics and their role in primary immunodeficiency disease. (23215767)
2012
13
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. (22361515)
2012
14
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. (22927353)
2012
15
PIDO: the primary immunodeficiency disease ontology. (21949270)
2011
16
Wiskott-Aldrich Syndrome at the nexus of autoimmune and primary immunodeficiency diseases. (22036785)
2011
17
Efficacy, safety, and pharmacokinetics of a 10% liquid immune globulin preparation (GAMMAGARD LIQUID, 10%) administered subcutaneously in subjects with primary immunodeficiency disease. (21424824)
2011
18
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
19
Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease. (20169031)
2010
20
Primary immunodeficiency disease: a model for case management of chronic diseases. (20032632)
2010
21
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. (20823128)
2010
22
Transplant outcomes for primary immunodeficiency disease. (20109615)
2010
23
TH17 cells and regulatory T cells in primary immunodeficiency diseases. (19410687)
2009
24
Clinical experience with Flebogamma 5% DIF: a new generation of intravenous immunoglobulins in patients with primary immunodeficiency disease. (19630866)
2009
25
Neutropenia and primary immunodeficiency diseases. (19811314)
2009
26
Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. (19801557)
2009
27
Biologic IgG level in primary immunodeficiency disease: the IgG level that protects against recurrent infection. (18602574)
2008
28
Hematopoietic stem cell transplantation for primary immunodeficiency disease. (17968328)
2008
29
Is it necessary to identify molecular defects in primary immunodeficiency disease? (18992927)
2008
30
Role of flow cytometry in the diagnosis and monitoring of primary immunodeficiency disease. (17658409)
2007
31
Stem cell transplantation in primary immunodeficiency disease patients. (18045274)
2007
32
Gene therapy for primary immunodeficiency diseases: recent progress and misgivings. (16472146)
2006
33
Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. (16435016)
2006
34
Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease. (16573555)
2006
35
Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis. (15137474)
2004
36
Health-related quality of life of children with primary immunodeficiency disease: a comparison study. (15609765)
2004
37
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. (11781063)
2002
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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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 Suite gene sharing:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
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 cells58
9.6FCGR3B, FCGR3A, WAS
79.6CIITA, FCGR3A, FCGR3B
89.3CD40, CD40LG, FCGR3A
9
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
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 Suite gene sharing:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1deoxyinosine43 2411.0ADA, PNP
29-(beta-d-arabinofuranosyl)guanine4310.0ADA, PNP
3nelarabine43 1210.9ADA, PNP
4daclizumab43 1210.8FCGR3B, CD40LG, FCGR3A
5alemtuzumab43 1210.8FCGR3B, CD40LG, FCGR3A
6pentostatin43 59 28 1212.7PNP, ADA
72,3-dideoxyadenosine439.6ADA, PNP
82-chlorodeoxyadenosine439.6CD40LG, ADA, PNP
9ivig439.6FCGR3A, CD40, CD40LG
10didanosine43 49 1211.6CD4, ADA, PNP
11cytidine43 24 1211.5CD40, CD40LG, ADA
12abciximab43 1210.5CD40, CD40LG, FCGR3A, FCGR3B
13dextran sulfate439.5CIITA, CD4, CD40LG
14guanosine43 24 1211.4BLZF1, ADA, PNP
15fludarabine43 49 1211.3CD40, ADA, PNP, CD40LG
16polyinosinic-polycytidylic acid439.3CD40, STAT3, CIITA
17allergens439.2CD40, BLZF1, CIITA, CD40LG
18ganglioside439.2CIITA, CD40LG, CD40, CD4
19herbimycin a43 5910.2CD40, CD4, CD40LG, FCGR3A
20mannose439.1FCGR3B, CIITA, FCGR3A, CD40, CD4
21neopterin439.1CD40LG, CD40, CD4, ADA
22ribavirin43 49 1210.9ADA, CD40LG, STAT3, PNP
23phenylalanine438.8STAT3, CIITA, FCGR3A, BLZF1
24wortmannin438.8CD40, WAS, LIG4, STAT3
25adenylate438.7CD40LG, BLZF1, PNP, ADA, CD40
26rituximab43 49 1210.7CD40, FCGR3B, CD40LG, FCGR3A, STAT3
27rapamycin438.6STAT3, CD40, WAS, PNP, CD40LG
28gtp43 289.6BLZF1, CIITA, STAT3, WAS, PNP
29aspartate438.5PNP, LIG4, CD40LG, STAT3, ADA
30lipid438.5CD40, CD4, FCGR3B, WAS, CIITA, BLZF1
31rantes438.4CIITA, CD40, CD40LG, STAT3, CD4
32doxorubicin43 49 1210.4CD40, STAT3, ADA, CD40LG
33phosphotyrosine438.4STAT3, BLZF1, FCGR3A, CIITA, CD4
34actinomycin d438.4BLZF1, CIITA, CD40LG, STAT3, CD40
35pge2438.4STAT3, CD4, CD40LG, CD40, CIITA
36dexamethasone43 49 28 1211.3CD40, CD40LG, STAT3, ADA, CIITA
37cycloheximide438.3STAT3, CIITA, BLZF1, CD4, CD40
38adp43 28 2410.2WAS, CD40LG, CD40, PNP, BLZF1
39h2o2438.1FCGR3B, ADA, BLZF1, STAT3, CD40, PNP
40arginine438.1CD40LG, STAT3, ADA, FCGR3A, BLZF1
41calcium43 49 24 1211.0CD40, BLZF1, FCGR3B, FCGR3A, CIITA, WAS
42cyclosporin a43 28 5910.0ADA, CD40LG, STAT3, CIITA, CD40, BLZF1
43glutamate438.0PNP, LIG4, ADA, CD4, BLZF1, CD40LG
44cholesterol43 28 24 1211.0CD40, CD4, STAT3, CIITA, FCGR3A, BLZF1
45genistein43 28 59 2 24 1213.0CD4, CD40, CD40LG, STAT3, FCGR3B, BLZF1
46alanine437.3BLZF1, ADA, CD40LG, CD4, STAT3, LIG4
47phosphatidylinositol437.3WAS, FCGR3B, BLZF1, LIG4, STAT3, CD4
48tyrosine437.2FCGR3A, CD4, CD40, BLZF1, PNP, FCGR3B
49cysteine437.2BLZF1, PNP, CIITA, ADA, CD4, CD40LG
50serine437.0CD40LG, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098978.1CD40, CD40LG, CD4, ADA, FCGR3A
2plasma membraneGO:00058867.0FCGR3A, LIG4, ADA, STAT3, CD4, CD40LG

Biological processes related to Primary Immunodeficiency Disease according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of alpha-beta T cell differentiationGO:004663810.0ADA, PNP
2isotype switchingGO:00451909.9LIG4, CD40LG
3purine-containing compound salvageGO:00431019.9ADA, PNP
4regulation of immunoglobulin secretionGO:00510239.9CD40, CD40LG
5positive regulation of endothelial cell apoptotic processGO:020003539.9CD40, CD40LG
6positive regulation of interleukin-12 productionGO:00327359.8CD40, CD40LG
7B cell proliferationGO:00421009.7CD40, CD40LG
8positive regulation of calcium-mediated signalingGO:00508509.7CD4, ADA
9positive regulation of B cell proliferationGO:00308909.7ADA, CD40
10purine nucleobase metabolic processGO:00061449.6ADA, PNP
11regulation of immune responseGO:00507769.6FCGR3A, CD40LG, CD40
12T cell activationGO:00421109.5ADA, WAS
13inflammatory responseGO:00069549.3CD40, CD40LG, CIITA
14immune responseGO:00069558.7CD4, WAS, CIITA, FCGR3A, FCGR3B, PNP

Molecular functions related to Primary Immunodeficiency Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1IgG bindingGO:00198649.8FCGR3A, FCGR3B
2enzyme bindingGO:00198998.8CD40, CD4, BLZF1
3protein bindingGO:00055156.9WAS, LIG4, ADA, DOCK8, STAT3, CD4

Products for genes affiliated with Primary Immunodeficiency Disease

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet