MCID: JK3001
MIFTS: 29

Jak3-Deficient Severe Combined Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for Jak3-Deficient Severe Combined Immunodeficiency

MalaCards integrated aliases for Jak3-Deficient Severe Combined Immunodeficiency:

Name: Jak3-Deficient Severe Combined Immunodeficiency 25
Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency 25
T-B+ Severe Combined Immunodeficiency Due to Jak3 Deficiency 25
T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid 25
Autosomal Recessive T-B+nk- Scid 25
Jak3 Scid 25

Classifications:



Summaries for Jak3-Deficient Severe Combined Immunodeficiency

Genetics Home Reference : 25 JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood. JAK3 JAK3 JAK3 JAK3

MalaCards based summary : Jak3-Deficient Severe Combined Immunodeficiency, also known as autosomal recessive t cell-negative, b cell-positive, nk cell-negative severe combined immunodeficiency, is related to immune deficiency disease and combined t cell and b cell immunodeficiency. An important gene associated with Jak3-Deficient Severe Combined Immunodeficiency is IL2 (Interleukin 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are Decreased viability in HMC1.1 cells and endocrine/exocrine gland

Related Diseases for Jak3-Deficient Severe Combined Immunodeficiency

Diseases related to Jak3-Deficient Severe Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 30.5 JAK3 IL4 IL2 IL15
2 combined t cell and b cell immunodeficiency 29.5 JAK3 JAK1 IL9 IL4 IL2 IL15
3 severe combined immunodeficiency, x-linked 28.5 STAT6 JAK3 JAK1 IL9 IL4 IL2
4 severe combined immunodeficiency 27.3 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
5 1-chloro-2,4-dinitrobenzene allergic contact dermatitis 10.4 IL4 IL2
6 virus associated hemophagocytic syndrome 10.4 IL4 IL2
7 atopic keratoconjunctivitis 10.4 IL4 IL2
8 angiostrongyliasis 10.3 IL4 IL2
9 mucocutaneous leishmaniasis 10.3 IL4 IL2
10 autoimmune vasculitis 10.3 IL4 IL2
11 tuberculoid leprosy 10.3 IL4 IL2
12 eosinophilic meningitis 10.3 IL4 IL2
13 acute graft versus host disease 10.3 IL4 IL2
14 pelvic lipomatosis 10.3 IL2 IL15
15 t-cell adult acute lymphocytic leukemia 10.3 JAK3 IL2
16 autoimmune disease of eyes, ear, nose and throat 10.3 IL4 IL2
17 primary systemic mycosis 10.3 IL4 IL2
18 trichinosis 10.3 IL9 IL4
19 autoimmune gastritis 10.3 IL4 IL2
20 lichen disease 10.2 IL4 IL2
21 viral esophagitis 10.2 JAK3 IL9
22 periapical granuloma 10.2 IL4 IL2
23 capillary leak syndrome 10.2 IL2 IL15
24 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.2
25 t cell deficiency 10.2 IL2 IL15
26 herpangina 10.2 IL4 IL2
27 lymphoblastic leukemia, acute, with lymphomatous features 10.2 JAK3 JAK1
28 beta-lactam allergy 10.2 STAT6 IL4
29 erythema multiforme 10.2 IL4 IL2
30 penicillin allergy 10.1 STAT6 IL4
31 t-cell prolymphocytic leukemia 10.1 JAK3 JAK1
32 chickenpox 10.1 IL4 IL2
33 nut allergy 10.1 STAT6 IL4
34 inflammatory bowel disease 18 10.1 IL4 IL2 IL15
35 microscopic colitis 10.1 IL4 IL2 IL15
36 autoimmune disease of gastrointestinal tract 10.1 IL4 IL2 IL15
37 urinary schistosomiasis 10.1 STAT6 IL4
38 visceral leishmaniasis 10.1 IL4 IL2 IL15
39 leishmaniasis 10.1 IL4 IL2 IL15
40 posterior uveitis 10.1 IL9 IL4 IL2
41 uveitis 10.1 IL9 IL4 IL2
42 nose disease 10.1 IL9 IL4 IL2
43 adult t-cell leukemia 10.1 JAK3 IL2 IL15
44 splenic disease 10.1 IL4 IL2
45 human immunodeficiency virus infectious disease 10.1 IL4 IL2 IL15
46 psoriatic arthritis 10.1 IL4 IL2 IL15
47 tetanus 10.0 IL9 IL4 IL2
48 testicular disease 10.0 INSL3 IL4 IL2
49 peanut allergy 10.0 IL9 IL4
50 vulvovaginal candidiasis 10.0 IL4 IL2

Graphical network of the top 20 diseases related to Jak3-Deficient Severe Combined Immunodeficiency:



Diseases related to Jak3-Deficient Severe Combined Immunodeficiency

Symptoms & Phenotypes for Jak3-Deficient Severe Combined Immunodeficiency

GenomeRNAi Phenotypes related to Jak3-Deficient Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 JAK1 JAK3

MGI Mouse Phenotypes related to Jak3-Deficient Severe Combined Immunodeficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 IL15 IL2 IL4 INSL3 JAK1 JAK3
2 hematopoietic system MP:0005397 9.91 IL15 IL2 IL4 IL9 JAK1 JAK3
3 immune system MP:0005387 9.81 IL15 IL2 IL4 IL9 JAK1 JAK3
4 liver/biliary system MP:0005370 9.43 IL2 IL4 JAK1 STAT5A STAT5B STAT6
5 reproductive system MP:0005389 9.17 IL15 IL2 IL4 INSL3 STAT5A STAT5B

Drugs & Therapeutics for Jak3-Deficient Severe Combined Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Jak3-Deficient Severe Combined Immunodeficiency

Genetic Tests for Jak3-Deficient Severe Combined Immunodeficiency

Anatomical Context for Jak3-Deficient Severe Combined Immunodeficiency

MalaCards organs/tissues related to Jak3-Deficient Severe Combined Immunodeficiency:

40
T Cells, B Cells, Nk Cells, Skin, Bone, Bone Marrow, Myeloid

Publications for Jak3-Deficient Severe Combined Immunodeficiency

Articles related to Jak3-Deficient Severe Combined Immunodeficiency:

# Title Authors PMID Year
1
Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency. 61
19659508 2010
2
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 61
9354668 1997
3
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. 61
8986719 1996
4
In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. 61
8676091 1996

Variations for Jak3-Deficient Severe Combined Immunodeficiency

Expression for Jak3-Deficient Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Jak3-Deficient Severe Combined Immunodeficiency.

Pathways for Jak3-Deficient Severe Combined Immunodeficiency

Pathways related to Jak3-Deficient Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
2
Show member pathways
13.74 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
3
Show member pathways
13.61 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
4
Show member pathways
13.59 STAT5B STAT5A JAK3 IL9 IL4 IL2
5
Show member pathways
13.47 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
6
Show member pathways
13.34 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
7
Show member pathways
13.29 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
8
Show member pathways
13.17 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
9
Show member pathways
13.09 STAT6 STAT5B STAT5A JAK3 JAK1 IL2
10
Show member pathways
12.87 STAT6 STAT5B STAT5A JAK3 JAK1
11
Show member pathways
12.86 JAK3 JAK1 IL4 IL2
12
Show member pathways
12.79 STAT5B STAT5A JAK3 JAK1 IL2
13
Show member pathways
12.76 IL9 IL4 IL2 IL15
14 12.73 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
15
Show member pathways
12.59 STAT6 STAT5B STAT5A JAK1 IL2
16
Show member pathways
12.59 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
17
Show member pathways
12.55 JAK1 IL9 IL4 IL2
18 12.55 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
19
Show member pathways
12.49 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
20
Show member pathways
12.43 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
21 12.37 STAT5B STAT5A JAK3 JAK1 IL2 IL15
22
Show member pathways
12.36 STAT6 STAT5B STAT5A JAK3 JAK1
23 12.3 STAT5B STAT5A JAK3 JAK1
24
Show member pathways
12.29 STAT6 STAT5B STAT5A JAK1
25
Show member pathways
12.27 JAK1 IL9 IL4 IL2 IL15
26
Show member pathways
12.25 STAT6 STAT5B STAT5A JAK3 JAK1
27
Show member pathways
12.14 STAT5B JAK3 JAK1
28
Show member pathways
12.12 STAT5B STAT5A JAK3 JAK1 IL2
29 12.11 STAT5B STAT5A JAK1
30
Show member pathways
12.1 STAT5B STAT5A JAK1
31
Show member pathways
12.1 STAT5B STAT5A JAK3 JAK1 IL2
32
Show member pathways
12.07 JAK3 JAK1 IL2
33 12.01 STAT6 STAT5B STAT5A
34 12.01 STAT6 JAK3 JAK1 IL4
35
Show member pathways
12 STAT6 STAT5A IL4 IL2
36 11.95 IL4 IL2 IL15
37 11.85 STAT5B STAT5A IL4 IL2
38 11.83 IL9 IL4 IL2 IL15
39 11.75 STAT6 STAT5B STAT5A JAK3 JAK1 IL2
40 11.73 IL4 IL2 IL15
41
Show member pathways
11.67 STAT5B STAT5A JAK3 JAK1 IL4 IL2
42
Show member pathways
11.64 STAT6 STAT5B STAT5A JAK3 JAK1 IL9
43 11.6 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
44 11.58 STAT6 STAT5B STAT5A JAK1
45
Show member pathways
11.54 STAT5B STAT5A JAK3 JAK1 IL9
46
Show member pathways
11.48 STAT6 STAT5B STAT5A JAK3 JAK1
47
Show member pathways
11.45 STAT5B STAT5A JAK1
48 11.43 STAT5B STAT5A JAK3
49 11.43 STAT6 STAT5B STAT5A JAK3 JAK1
50 11.35 IL9 IL4 IL15

GO Terms for Jak3-Deficient Severe Combined Immunodeficiency

Biological processes related to Jak3-Deficient Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 STAT6 STAT5B STAT5A IL4 IL2
2 immune response GO:0006955 9.92 IL9 IL4 IL2 IL15
3 cell-cell signaling GO:0007267 9.83 INSL3 IL2 IL15
4 regulation of cell proliferation GO:0042127 9.82 STAT6 STAT5B STAT5A
5 cytokine-mediated signaling pathway GO:0019221 9.8 STAT6 STAT5B STAT5A JAK3 JAK1 IL4
6 defense response GO:0006952 9.79 STAT6 STAT5B STAT5A
7 positive regulation of inflammatory response GO:0050729 9.76 STAT5B IL2 IL15
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.72 IL4 IL2 IL15
9 positive regulation of T cell proliferation GO:0042102 9.71 JAK3 IL4 IL2 IL15
10 response to peptide hormone GO:0043434 9.67 STAT6 STAT5B STAT5A
11 interleukin-7-mediated signaling pathway GO:0038111 9.67 STAT5B STAT5A JAK3 JAK1
12 T cell homeostasis GO:0043029 9.65 STAT5B JAK3
13 regulation of multicellular organism growth GO:0040014 9.64 STAT5B STAT5A
14 positive regulation of activated T cell proliferation GO:0042104 9.63 STAT5B IL2
15 positive regulation of T cell differentiation GO:0045582 9.62 IL4 IL2
16 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.62 STAT6 STAT5B STAT5A JAK3
17 positive regulation of interleukin-17 production GO:0032740 9.61 IL2 IL15
18 JAK-STAT cascade GO:0007259 9.61 STAT6 STAT5B STAT5A
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.6 IL4 IL2
20 tyrosine phosphorylation of STAT protein GO:0007260 9.59 JAK3 IL15
21 interleukin-21-mediated signaling pathway GO:0038114 9.58 JAK3 JAK1
22 positive regulation of natural killer cell differentiation GO:0032825 9.57 STAT5B IL15
23 positive regulation of natural killer cell proliferation GO:0032819 9.56 STAT5B IL15
24 interleukin-15-mediated signaling pathway GO:0035723 9.55 STAT5B STAT5A JAK3 JAK1 IL15
25 positive regulation of tissue remodeling GO:0034105 9.54 IL2 IL15
26 response to interleukin-4 GO:0070670 9.52 STAT5B JAK3
27 taurine metabolic process GO:0019530 9.51 STAT5B STAT5A
28 interleukin-4-mediated signaling pathway GO:0035771 9.48 STAT6 JAK3
29 positive regulation of isotype switching to IgE isotypes GO:0048295 9.46 STAT6 IL4
30 interleukin-2-mediated signaling pathway GO:0038110 9.35 STAT5B STAT5A JAK3 JAK1 IL2
31 interleukin-9-mediated signaling pathway GO:0038113 9.02 STAT5B STAT5A JAK3 JAK1 IL9

Molecular functions related to Jak3-Deficient Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.43 IL9 IL4 IL2
2 protein phosphatase binding GO:0019903 9.33 STAT6 JAK3 JAK1
3 cytokine activity GO:0005125 9.26 IL9 IL4 IL2 IL15
4 cytokine receptor binding GO:0005126 8.8 IL9 IL4 IL15

Sources for Jak3-Deficient Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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