MCID: JNS001
MIFTS: 21

Janus Kinase-3 Deficiency

Categories: Immune diseases, Infectious diseases

Aliases & Classifications for Janus Kinase-3 Deficiency

MalaCards integrated aliases for Janus Kinase-3 Deficiency:

Name: Janus Kinase-3 Deficiency 12 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:0060008

Summaries for Janus Kinase-3 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops from janus kinase-3 deficiency, and has material basis in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.

MalaCards based summary : Janus Kinase-3 Deficiency is related to severe combined immunodeficiency and combined immunodeficiency. An important gene associated with Janus Kinase-3 Deficiency is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are Interleukin-4 and 13 signaling and Cytokine production by Th17 cells in CF (Mouse model). Related phenotype is endocrine/exocrine gland.

Wikipedia : 73 JAK3 (Janus kinase 3) deficiency is a dysfunction in cytokine receptor signalling and their production... more...

Related Diseases for Janus Kinase-3 Deficiency

Graphical network of the top 20 diseases related to Janus Kinase-3 Deficiency:



Diseases related to Janus Kinase-3 Deficiency

Symptoms & Phenotypes for Janus Kinase-3 Deficiency

MGI Mouse Phenotypes related to Janus Kinase-3 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 IL2RG JAK3 LIG4 PGM3 TBATA

Drugs & Therapeutics for Janus Kinase-3 Deficiency

Search Clinical Trials , NIH Clinical Center for Janus Kinase-3 Deficiency

Genetic Tests for Janus Kinase-3 Deficiency

Anatomical Context for Janus Kinase-3 Deficiency

Publications for Janus Kinase-3 Deficiency

Articles related to Janus Kinase-3 Deficiency:

# Title Authors PMID Year
1
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran. 61
29943473 2018
2
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review. 61
29049190 2017
3
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. 61
27956217 2017
4
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. 61
27593409 2016

Variations for Janus Kinase-3 Deficiency

Expression for Janus Kinase-3 Deficiency

Search GEO for disease gene expression data for Janus Kinase-3 Deficiency.

Pathways for Janus Kinase-3 Deficiency

GO Terms for Janus Kinase-3 Deficiency

Biological processes related to Janus Kinase-3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-7-mediated signaling pathway GO:0038111 9.37 JAK3 IL2RG
2 interleukin-15-mediated signaling pathway GO:0035723 9.32 JAK3 IL2RG
3 interleukin-2-mediated signaling pathway GO:0038110 9.26 JAK3 IL2RG
4 interleukin-9-mediated signaling pathway GO:0038113 9.16 JAK3 IL2RG
5 interleukin-21-mediated signaling pathway GO:0038114 8.96 JAK3 IL2RG
6 interleukin-4-mediated signaling pathway GO:0035771 8.62 JAK3 IL2RG

Sources for Janus Kinase-3 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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