MCID: PRM097
MIFTS: 46

Primary Immunodeficiency Disease malady

Immune diseases category
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Summaries for Primary Immunodeficiency Disease

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65Wikipedia, 33MalaCards
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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: Primary Immunodeficiency Disease, also known as immunologic deficiency syndromes, is related to neutropenia and hematopoietic stem cell transplantation. 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 cytomegalovirus immune globulin and immunoglobulins 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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10DISEASES, 62UMLS
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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 62


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 97)
idRelated DiseaseScoreTop Affiliating Genes
1neutropenia29.9BLZF1, FCGR3B, FCGR3A, WAS, STAT3, CD40
2hematopoietic stem cell transplantation10.2
3brucellosis10.1BLZF1
4wiskott-aldrich syndrome10.1
5purine nucleoside phosphorylase deficiency10.1ADA
6cd40 ligand deficiency10.1CD40LG
7cryptococcosis10.1CD4
8syphilis10.1CD4
9progressive multifocal leukoencephalopathy10.1CD4
10cryptosporidiosis10.1CD4
11histoplasmosis10.1CD4
12bruton-type agammaglobulinemia10.1CD40, WAS
13omenn syndrome10.1ADA, LIG4
14adenosine deaminase deficiency10.1ADA, PNP
15bullous pemphigoid10.1BLZF1, CIITA
16malignant spiradenoma10.1CD40, CD40LG
17cd40 deficiency10.1CD40, CD40LG
18immunodeficiency with hyper igm type 110.1CD40, CD40LG
19encephalitis10.1CIITA, CD4
20agammaglobulinemia10.1CD40LG, CD40
21periodontal disease10.1CD4
22plasmacytoma10.1CIITA, CD40
23malaria10.1PNP, CD4
24hairy cell leukemia10.0ADA, CD40
25immunodeficiency, common variable, 710.0CD40, CD40LG
26herpes zoster10.0CD4, FCGR3A
27common variable immune deficiency10.0CD40LG, CD40
28vasculitis10.0CD40LG, FCGR3B, BLZF1
29lyme disease10.0CD40LG, CIITA, BLZF1
30toxic shock syndrome10.0CIITA, CD4
31thyroiditis10.0CIITA, CD4
32myocarditis10.0CIITA, CD4
33autoimmune thyroiditis10.0PNP, CIITA, CD40
34lymphopenia10.0ADA, CIITA, PNP
35nephritis10.0CD40LG, FCGR3A, FCGR3B
36systemic scleroderma10.0FCGR3B, CIITA, CD40LG
37peritonitis10.0ADA, FCGR3B
38vaccinia10.0CD4, LIG4
39sepsis10.0CIITA, FCGR3A, FCGR3B, BLZF1
40infectious mononucleosis10.0CD4, CD40LG
41toxoplasmosis10.0CD4, CD40LG
42hodgkin's lymphoma10.0CD40, STAT3, BLZF1
43sjogren's syndrome10.0CIITA, CD40LG, CD40
44chronic myeloid leukemia10.0BLZF1, PNP, FCGR3B, ADA
45cutaneous t cell lymphoma10.0PNP, ADA, STAT3
46macroglobulinemia, waldenstrom, somatic10.0ADA, CD40LG, CD40
47schistosomiasis10.0CD40LG, CD4
48acute lymphocytic leukemia10.0CD40, ADA, PNP
49inflammatory bowel disease10.0CIITA, STAT3, CD40
50measles10.0CIITA, CD4, CD40LG

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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-RT41:

Genetic Tests for Primary Immunodeficiency Disease

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Anatomical Context for Primary Immunodeficiency Disease

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33MalaCards
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MalaCards organs/tissues related to Primary Immunodeficiency Disease:

33
T cells, B cells

Animal Models for Primary Immunodeficiency Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Primary Immunodeficiency Disease:

37
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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52PubMed
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Articles related to Primary Immunodeficiency Disease:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
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
2
Tolerance and autoimmunity in primary immunodeficiency disease: a comprehensive review. (23296947)
2013
3
Illustrative cases on individualizing immunoglobulin therapy in primary immunodeficiency disease. (24267400)
2013
4
Long-term efficacy, safety, and tolerability of HizentraAr for treatment of primary immunodeficiency disease. (24412910)
2013
5
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. (24240291)
2013
6
Supplement: Frontiers in Immunoglobulin Therapy of Primary Immunodeficiency Disease. (23797892)
2013
7
Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. (24332217)
2013
8
Evaluation of primary immunodeficiency disease in children. (23939499)
2013
9
Optimizing immunoglobulin treatment for patients with primary immunodeficiency disease to prevent pneumonia and infection incidence: review of the current data. (24267401)
2013
10
Modeling Primary Immunodeficiency Disease Epidemiology and Its Treatment to Estimate Latent Therapeutic Demand for Immunoglobulin. (24338563)
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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2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 54R&D Systems, 60Thomson Reuters, 30KEGG, 53QIAGEN
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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 biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
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 pathway38
TCR Signaling Pathway38
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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Sources:
45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 3BitterDB
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Compounds related to Primary Immunodeficiency Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1deoxyinosine45 2411.0ADA, PNP
29-(beta-d-arabinofuranosyl)guanine4510.0ADA, PNP
3nelarabine45 1110.9ADA, PNP
4daclizumab45 1110.8FCGR3B, CD40LG, FCGR3A
5alemtuzumab45 1110.8FCGR3B, CD40LG, FCGR3A
6pentostatin45 61 29 1112.7PNP, ADA
72,3-dideoxyadenosine459.6ADA, PNP
82-chlorodeoxyadenosine459.6CD40LG, ADA, PNP
9ivig459.6FCGR3A, CD40, CD40LG
10didanosine45 51 1111.6CD4, ADA, PNP
11cytidine45 24 1111.5CD40, CD40LG, ADA
12abciximab45 1110.5CD40, CD40LG, FCGR3A, FCGR3B
13dextran sulfate459.5CIITA, CD4, CD40LG
14guanosine45 24 1111.4BLZF1, ADA, PNP
15fludarabine45 51 1111.3CD40, ADA, PNP, CD40LG
16polyinosinic-polycytidylic acid459.3CD40, STAT3, CIITA
17allergens459.2CD40, BLZF1, CIITA, CD40LG
18ganglioside459.2CIITA, CD40LG, CD40, CD4
19herbimycin a45 6110.2CD40, CD4, CD40LG, FCGR3A
20mannose459.1FCGR3B, CIITA, FCGR3A, CD40, CD4
21neopterin459.1CD40LG, CD40, CD4, ADA
22ribavirin45 51 1110.9ADA, CD40LG, STAT3, PNP
23phenylalanine458.8STAT3, CIITA, FCGR3A, BLZF1
24wortmannin458.8CD40, WAS, LIG4, STAT3
25adenylate458.7CD40LG, BLZF1, PNP, ADA, CD40
26rituximab45 51 1110.7CD40, FCGR3B, CD40LG, FCGR3A, STAT3
27rapamycin458.6STAT3, CD40, WAS, PNP, CD40LG
28gtp45 299.6BLZF1, CIITA, STAT3, WAS, PNP
29aspartate458.5PNP, LIG4, CD40LG, STAT3, ADA
30lipid458.5CD40, CD4, FCGR3B, WAS, CIITA, BLZF1
31rantes458.4CIITA, CD40, CD40LG, STAT3, CD4
32doxorubicin45 51 1110.4CD40, STAT3, ADA, CD40LG
33phosphotyrosine458.4STAT3, BLZF1, FCGR3A, CIITA, CD4
34actinomycin d458.4BLZF1, CIITA, CD40LG, STAT3, CD40
35pge2458.4STAT3, CD4, CD40LG, CD40, CIITA
36dexamethasone45 51 29 1111.3CD40, CD40LG, STAT3, ADA, CIITA
37cycloheximide458.3STAT3, CIITA, BLZF1, CD4, CD40
38adp45 29 2410.2WAS, CD40LG, CD40, PNP, BLZF1
39h2o2458.1FCGR3B, ADA, BLZF1, STAT3, CD40, PNP
40arginine458.1CD40LG, STAT3, ADA, FCGR3A, BLZF1
41calcium45 51 24 1111.0CD40, BLZF1, FCGR3B, FCGR3A, CIITA, WAS
42cyclosporin a45 29 6110.0ADA, CD40LG, STAT3, CIITA, CD40, BLZF1
43glutamate458.0PNP, LIG4, ADA, CD4, BLZF1, CD40LG
44cholesterol45 29 24 1111.0CD40, CD4, STAT3, CIITA, FCGR3A, BLZF1
45genistein45 29 61 3 24 1113.0CD4, CD40, CD40LG, STAT3, FCGR3B, BLZF1
46alanine457.3BLZF1, ADA, CD40LG, CD4, STAT3, LIG4
47phosphatidylinositol457.3WAS, FCGR3B, BLZF1, LIG4, STAT3, CD4
48tyrosine457.2FCGR3A, CD4, CD40, BLZF1, PNP, FCGR3B
49cysteine457.2BLZF1, PNP, CIITA, ADA, CD4, CD40LG
50serine457.0CD40LG, CD40, CD4, PNP, FCGR3B, CIITA

GO Terms for genes affiliated with Primary Immunodeficiency Disease

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Sources:
16Gene Ontology
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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
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Sources for Primary Immunodeficiency Disease

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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