MCID: DND022
MIFTS: 23

Dendritic Cell Deficiency

Categories: Immune diseases

Aliases & Classifications for Dendritic Cell Deficiency

MalaCards integrated aliases for Dendritic Cell Deficiency:

Name: Dendritic Cell Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0111963

Summaries for Dendritic Cell Deficiency

Disease Ontology : 12 A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.

MalaCards based summary : Dendritic Cell Deficiency is related to immunodeficiency 21 and immunodeficiency 32b. An important gene associated with Dendritic Cell Deficiency is IRF8 (Interferon Regulatory Factor 8), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation. The drugs Sargramostim and Molgramostim have been mentioned in the context of this disorder. Affiliated tissues include myeloid and kidney.

Related Diseases for Dendritic Cell Deficiency

Diseases related to Dendritic Cell Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 21 31.7 IRF8 GATA2 ASXL1
2 immunodeficiency 32b 11.6
3 immunodeficiency 32a 11.5
4 immunodeficiency 59 and hypoglycemia 11.3
5 b cell and dendritic cell deficiency 11.2
6 microcephalic osteodysplastic primordial dwarfism, type i 9.9 ZRSR2 U2AF1
7 sm-ahnmd 9.9 U2AF1 ASXL1
8 indolent systemic mastocytosis 9.9 U2AF1 ASXL1
9 patau syndrome 9.9 U2AF1 ASXL1
10 autoimmune disease 9.8
11 leukemia, chronic lymphocytic 9.8
12 immune deficiency disease 9.8
13 human cytomegalovirus infection 9.8
14 bacterial infectious disease 9.8
15 allergic asthma 9.8
16 bk-virus nephropathy 9.8
17 chronic neutrophilic leukemia 9.8 U2AF1 ASXL1
18 leukemia, chronic myeloid 9.8 U2AF1 IRF8 IKZF1 GATA2
19 chronic eosinophilic leukemia 9.7 U2AF1 ASXL1
20 refractory cytopenia with multilineage dysplasia 9.7 U2AF1 GATA2 ASXL1
21 chronic myelomonocytic leukemia 9.7 U2AF1 GATA2 ASXL1
22 aggressive systemic mastocytosis 9.7 U2AF1 ASXL1
23 myelophthisic anemia 9.6 U2AF1L4 U2AF1 ASXL1
24 fanconi anemia, complementation group a 9.6 ZRSR2 U2AF1 IRF8 GATA2
25 atypical chronic myeloid leukemia 9.6 U2AF1L4 U2AF1 ASXL1
26 myelofibrosis 9.6 U2AF1 GATA2 ASXL1
27 hematologic cancer 9.6 U2AF1 IKZF1 GATA2
28 leukemia 9.5 U2AF1 IKZF1 GATA2 ASXL1
29 myelodysplastic/myeloproliferative neoplasm 9.3 ZRSR2 U2AF1L4 U2AF1 ASXL1
30 myelodysplastic syndrome 9.3 ZRSR2 U2AF1 GATA2 ASXL1
31 chronic leukemia 9.3 ZRSR2 U2AF1L4 U2AF1 ASXL1
32 melanoma, uveal 9.3 ZRSR2 U2AF1L4 U2AF1 ASXL1
33 bone marrow cancer 8.9 ZRSR2 U2AF1L4 U2AF1 IKZF1 GATA2 ASXL1
34 leukemia, acute myeloid 8.7 ZRSR2 U2AF1L4 U2AF1 IRF8 IKZF1 GATA2

Graphical network of the top 20 diseases related to Dendritic Cell Deficiency:



Diseases related to Dendritic Cell Deficiency

Symptoms & Phenotypes for Dendritic Cell Deficiency

Drugs & Therapeutics for Dendritic Cell Deficiency

Drugs for Dendritic Cell Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
2
Molgramostim Investigational Phase 2 99283-10-0
3 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sargramostim to Reverse Myeloid Dendritic Cell Deficiency Terminated NCT03063242 Phase 2 Sargramostim
2 Sargramostim for Myeloid Dendritic Cell Deficiency - Phase I Completed NCT01871467 Phase 1 Sargramostim

Search NIH Clinical Center for Dendritic Cell Deficiency

Genetic Tests for Dendritic Cell Deficiency

Anatomical Context for Dendritic Cell Deficiency

MalaCards organs/tissues related to Dendritic Cell Deficiency:

40
Myeloid, Kidney

Publications for Dendritic Cell Deficiency

Articles related to Dendritic Cell Deficiency:

(show all 14)
# Title Authors PMID Year
1
Tumor microenvironment-related dendritic cell deficiency: a target to enhance tumor immunotherapy. 61
32504832 2020
2
Plasmacytoid dendritic cell deficiency in neonates enhances allergic airway inflammation via reduced production of IFN-α. 61
31853001 2020
3
Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation. 61
29128673 2018
4
Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency. 61
30761159 2018
5
Dendritic cell analysis in primary immunodeficiency. 61
27755182 2016
6
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. 61
25349174 2015
7
The transcription factor IRF8 counteracts BCR-ABL to rescue dendritic cell development in chronic myelogenous leukemia. 61
24242069 2013
8
Pre-transplant myeloid dendritic cell deficiency associated with cytomegalovirus infection and death after kidney transplantation. 61
22672201 2012
9
Human dendritic cell deficiency: the missing ID? 61
21852794 2011
10
Dendritic cell deficiency associated with development of BK viremia and nephropathy in renal transplant recipients. 61
20061927 2010
11
Dendritic cell deficiency in the blood of kidney transplant patients on long-term immunosuppression: results of a prospective matched-cohort study. 61
16303009 2005
12
Fms-like tyrosine kinase 3 ligand administration overcomes a genetically determined dendritic cell deficiency in NOD mice and protects against diabetes development. 61
15684037 2005
13
Dendritic cell deficiency in early B cell chronic lymphocytic leukemia. 61
14754617 2004
14
Abrogation of surgery-induced IL-6 hypersecretion by presurgical immunotherapy with IL-2 and its importance in the prevention of postoperative complications. 61
11860226 2001

Variations for Dendritic Cell Deficiency

Expression for Dendritic Cell Deficiency

Search GEO for disease gene expression data for Dendritic Cell Deficiency.

Pathways for Dendritic Cell Deficiency

Pathways related to Dendritic Cell Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.85 IRF8 IKZF1 GATA2
2 10.64 IKZF1 GATA2
3 9.74 IRF8 IKZF1

GO Terms for Dendritic Cell Deficiency

Cellular components related to Dendritic Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ZRSR2 U2AF1L4 U2AF1 IRF8 IKZF1 GATA2
2 spliceosomal complex GO:0005681 9.13 ZRSR2 U2AF1L4 U2AF1
3 U2AF GO:0089701 8.8 ZRSR2 U2AF1L4 U2AF1

Biological processes related to Dendritic Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.43 ZRSR2 U2AF1L4 U2AF1
2 mRNA 3'-end processing GO:0031124 9.37 U2AF1L4 U2AF1
3 RNA export from nucleus GO:0006405 9.32 U2AF1L4 U2AF1
4 negative regulation of fat cell differentiation GO:0045599 9.16 GATA2 ASXL1
5 positive regulation of phagocytosis GO:0050766 8.96 GATA2 DOCK2
6 mRNA splicing, via spliceosome GO:0000398 8.8 ZRSR2 U2AF1L4 U2AF1

Molecular functions related to Dendritic Cell Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.5 ZRSR2 U2AF1L4 U2AF1 IKZF1 GNA13 GATA2
2 pre-mRNA 3'-splice site binding GO:0030628 8.8 ZRSR2 U2AF1L4 U2AF1

Sources for Dendritic Cell Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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