MCID: JK3001
MIFTS: 34

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.

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 combined immunodeficiency, x-linked and severe combined 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 all 49)
# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency, x-linked 28.4 IL15 IL2 IL4 IL9 JAK3
2 severe combined immunodeficiency 28.4 IL15 IL2 IL4 IL9 JAK3
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.1
4 virus associated hemophagocytic syndrome 10.7 IL2 IL4
5 atopic keratoconjunctivitis 10.7 IL2 IL4
6 angiostrongyliasis 10.7 IL2 IL4
7 microscopic colitis 10.6 IL2 IL4
8 vulvovaginal candidiasis 10.6 IL2 IL4
9 lactocele 10.6 JAK1 JAK3
10 coccidiosis 10.6 IL2 IL4
11 lymphoblastic leukemia, acute, with lymphomatous features 10.5 JAK1 JAK3
12 penicillin allergy 10.5 IL4 STAT6
13 t-cell large granular lymphocyte leukemia 10.5 IL2 STAT5B
14 beta-lactam allergy 10.5 IL4 STAT6
15 intestinal schistosomiasis 10.5 IL4 STAT6
16 urinary schistosomiasis 10.4 IL4 STAT6
17 primary amebic meningoencephalitis 10.4 IL4 STAT6
18 acute graft versus host disease 10.3 IL2 IL4
19 cellular congenital mesoblastic nephroma 10.3 STAT5A STAT5B
20 trichinosis 10.3 IL4 IL9
21 onchocerciasis 10.3 IL2 IL4
22 t-cell prolymphocytic leukemia 10.3 JAK1 JAK3
23 lymphoblastic leukemia 10.2 IL2 JAK1 JAK3
24 schistosomiasis 10.2 IL2 IL4 STAT6
25 anemia of prematurity 10.2 STAT5A STAT5B
26 dermatitis, atopic 10.1 IL2 IL4 STAT6
27 pelvic lipomatosis 10.1 IL15 IL2
28 enterobiasis 10.1 IL4 IL9
29 erythrocytosis, familial, 1 10.1 STAT5A STAT5B
30 vernal conjunctivitis 10.1 IL2 IL4
31 isolated growth hormone deficiency, type ii 10.1 STAT5A STAT5B
32 eosinophilic gastritis 10.0 IL15 IL4
33 polycythemia vera 10.0 JAK1 JAK3 STAT5A
34 b cell linker protein deficiency 9.9 JAK3 STAT5A STAT5B
35 bone marrow cancer 9.9 JAK3 STAT5A STAT5B
36 paracoccidioidomycosis 9.8 IL2 IL4
37 myelofibrosis 9.8 JAK1 STAT5A STAT5B
38 ige responsiveness, atopic 9.8 IL4 IL9 STAT6
39 rasmussen encephalitis 9.8 IL15 IL4
40 allergic hypersensitivity disease 9.8 IL4 IL9 STAT6
41 hematologic cancer 9.8 IL2 STAT5A STAT5B
42 sezary's disease 9.7 IL15 IL2 IL4
43 cutaneous t cell lymphoma 9.7 IL15 IL2 IL4
44 bare lymphocyte syndrome, type i 9.6 IL15 IL4
45 severe combined immunodeficiency, x-linked 9.6 IL2 IL4 IL9 JAK3
46 thymic dysplasia 9.5 IL15 IL9
47 lymphoma, non-hodgkin, familial 9.2 IL15 IL2 IL9
48 inflammatory bowel disease 9.1 IL15 IL2 IL4 STAT6
49 malaria 8.9 IL15 IL2 IL4 IL9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.06 STAT5B STAT6 IL15 IL2 IL4 INSL3
2 hematopoietic system MP:0005397 10.02 IL15 IL2 IL4 IL9 JAK1 JAK3
3 behavior/neurological MP:0005386 10 IL15 IL2 INSL3 JAK1 STAT5A STAT5B
4 cellular MP:0005384 9.98 STAT5A STAT5B STAT6 IL2 IL4 INSL3
5 immune system MP:0005387 9.97 IL15 IL2 IL4 IL9 JAK1 JAK3
6 mortality/aging MP:0010768 9.76 IL15 IL2 IL4 JAK1 JAK3 STAT5A
7 liver/biliary system MP:0005370 9.73 IL2 IL4 JAK1 STAT5A STAT5B STAT6
8 renal/urinary system MP:0005367 9.35 IL15 IL4 JAK1 STAT5B STAT6
9 reproductive system MP:0005389 9.17 INSL3 STAT5A STAT5B STAT6 IL15 IL2

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:

41
T Cells, B Cells, Nk Cells, Skin, Bone, Bone Marrow

Publications for Jak3-Deficient Severe Combined Immunodeficiency

Articles related to Jak3-Deficient Severe Combined Immunodeficiency:

# Title Authors Year
1
Hemophagocytosis after bone marrow transplantation for JAK3-deficient severe combined immunodeficiency. ( 19659508 )
2010
2
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. ( 9354668 )
1997
3
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. ( 8986719 )
1996
4
In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. ( 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 62)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 IL15 IL2 IL4 IL9 JAK1 JAK3
2
Show member pathways
13.77 IL15 IL2 IL4 IL9 JAK1 JAK3
3
Show member pathways
13.61 IL2 IL9 JAK1 JAK3 STAT5A STAT5B
4
Show member pathways
13.58 IL15 IL2 IL4 IL9 JAK3 STAT5A
5
Show member pathways
13.44 IL15 IL2 IL4 IL9 JAK1 JAK3
6
Show member pathways
13.34 IL15 IL2 IL4 IL9 JAK1 JAK3
7
Show member pathways
13.29 IL15 IL2 IL4 IL9 JAK1 JAK3
8
Show member pathways
13.27 JAK1 JAK3 STAT5A STAT5B STAT6
9
Show member pathways
12.87 JAK1 JAK3 STAT5A STAT5B STAT6
10
Show member pathways
12.85 IL2 IL4 JAK1 JAK3
11
Show member pathways
12.79 IL2 IL4 JAK1 JAK3 STAT5A STAT5B
12
Show member pathways
12.79 IL4 JAK1 JAK3 STAT5A STAT5B STAT6
13
Show member pathways
12.79 IL15 IL2 IL4 JAK1 JAK3 STAT5A
14
Show member pathways
12.76 IL15 IL2 IL4 IL9
15 12.73 IL15 IL2 IL4 JAK1 JAK3 STAT5A
16
Show member pathways
12.68 JAK1 JAK3 STAT5A STAT5B
17
Show member pathways
12.59 IL2 JAK1 STAT5A STAT5B STAT6
18
Show member pathways
12.58 IL15 IL2 IL4 IL9 JAK1 JAK3
19 12.57 IL2 IL4 JAK1 JAK3 STAT5A STAT5B
20
Show member pathways
12.52 JAK1 STAT5A STAT5B STAT6
21
Show member pathways
12.46 JAK1 JAK3 STAT5A STAT5B STAT6
22 12.45 IL15 IL2 JAK1 JAK3 STAT5A STAT5B
23
Show member pathways
12.4 IL2 IL4 JAK1 JAK3 STAT5A STAT5B
24
Show member pathways
12.31 IL2 IL4 IL9
25
Show member pathways
12.3 JAK1 STAT5A STAT5B STAT6
26 12.29 JAK1 JAK3 STAT5A STAT5B
27
Show member pathways
12.29 IL2 JAK1 JAK3 STAT5A STAT5B
28
Show member pathways
12.25 JAK1 JAK3 STAT5A STAT5B STAT6
29
Show member pathways
12.22 IL2 JAK1 JAK3 STAT5A STAT5B
30
Show member pathways
12.2 IL15 IL2 IL4 IL9 JAK1 JAK3
31
Show member pathways
12.14 JAK1 JAK3 STAT5B
32
Show member pathways
12.12 IL2 JAK1 JAK3 STAT5A STAT5B
33 12.11 JAK1 STAT5A STAT5B
34
Show member pathways
12.1 JAK1 STAT5A STAT5B
35
Show member pathways
12.08 IL15 IL2 IL4 IL9 JAK1
36
Show member pathways
12.07 IL2 JAK1 JAK3
37 12.02 IL4 JAK1 JAK3 STAT6
38
Show member pathways
12.01 IL2 IL4 STAT5A STAT6
39
Show member pathways
12.01 IL2 JAK1 JAK3 STAT5A STAT5B
40 12 STAT5A STAT5B STAT6
41 11.94 IL15 IL2 IL4
42 11.85 IL2 IL4 STAT5A STAT5B
43 11.84 IL15 IL2 IL4 IL9
44 11.75 IL15 IL2 JAK1 JAK3 STAT5A STAT5B
45
Show member pathways
11.67 IL2 IL4 JAK1 JAK3 STAT5A STAT5B
46 11.6 IL4 JAK1 JAK3 STAT5A STAT5B STAT6
47 11.58 JAK1 STAT5A STAT5B STAT6
48
Show member pathways
11.56 IL9 JAK1 JAK3 STAT5A STAT5B
49
Show member pathways
11.5 JAK1 JAK3 STAT5A STAT5B STAT6
50 11.46 JAK1 JAK3 STAT5A STAT5B STAT6

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 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 IL15 IL2 IL9 STAT5B
2 immune response GO:0006955 9.96 IL15 IL2 IL4 IL9
3 MAPK cascade GO:0000165 9.87 IL2 JAK1 JAK3
4 regulation of cell proliferation GO:0042127 9.86 JAK1 JAK3 STAT6
5 peptidyl-tyrosine phosphorylation GO:0018108 9.84 JAK3 STAT5A STAT5B
6 regulation of signaling receptor activity GO:0010469 9.83 IL15 IL2 IL4 IL9 INSL3
7 positive regulation of inflammatory response GO:0050729 9.78 IL15 IL2 STAT5B
8 cytokine-mediated signaling pathway GO:0019221 9.7 IL2 IL4 JAK1 JAK3 STAT5A STAT5B
9 positive regulation of B cell proliferation GO:0030890 9.69 IL2 IL4
10 T cell homeostasis GO:0043029 9.68 JAK3 STAT5B
11 regulation of multicellular organism growth GO:0040014 9.68 STAT5A STAT5B
12 JAK-STAT cascade GO:0007259 9.68 STAT5A STAT5B
13 positive regulation of activated T cell proliferation GO:0042104 9.67 IL2 STAT5B
14 positive regulation of T cell proliferation GO:0042102 9.67 IL15 IL2 IL4 JAK3
15 2-oxoglutarate metabolic process GO:0006103 9.66 STAT5A STAT5B
16 positive regulation of T cell differentiation GO:0045582 9.65 IL2 IL4
17 positive regulation of interleukin-17 production GO:0032740 9.65 IL15 IL2
18 oxaloacetate metabolic process GO:0006107 9.65 STAT5A STAT5B
19 creatine metabolic process GO:0006600 9.64 STAT5A STAT5B
20 natural killer cell differentiation GO:0001779 9.64 IL15 STAT5B
21 succinate metabolic process GO:0006105 9.63 STAT5A STAT5B
22 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 IL2 IL4
23 tyrosine phosphorylation of STAT protein GO:0007260 9.62 IL15 JAK3
24 interleukin-21-mediated signaling pathway GO:0038114 9.62 JAK1 JAK3
25 positive regulation of natural killer cell differentiation GO:0032825 9.61 IL15 STAT5B
26 citrate metabolic process GO:0006101 9.6 STAT5A STAT5B
27 positive regulation of natural killer cell proliferation GO:0032819 9.59 IL15 STAT5B
28 positive regulation of tissue remodeling GO:0034105 9.58 IL15 IL2
29 response to interleukin-4 GO:0070670 9.58 JAK3 STAT5B
30 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 JAK3 STAT5A STAT5B
31 valine metabolic process GO:0006573 9.57 STAT5A STAT5B
32 taurine metabolic process GO:0019530 9.56 STAT5A STAT5B
33 interleukin-7-mediated signaling pathway GO:0038111 9.56 JAK1 JAK3 STAT5A STAT5B
34 interleukin-4-mediated signaling pathway GO:0035771 9.55 JAK3 STAT6
35 creatinine metabolic process GO:0046449 9.54 STAT5A STAT5B
36 isoleucine metabolic process GO:0006549 9.52 STAT5A STAT5B
37 positive regulation of isotype switching to IgE isotypes GO:0048295 9.51 IL4 STAT6
38 interleukin-9-mediated signaling pathway GO:0038113 9.5 IL9 JAK1 JAK3
39 response to interleukin-2 GO:0070669 9.49 JAK3 STAT5B
40 response to interleukin-15 GO:0070672 9.48 JAK3 STAT5B
41 allantoin metabolic process GO:0000255 9.46 STAT5A STAT5B
42 interleukin-15-mediated signaling pathway GO:0035723 9.35 IL15 JAK1 JAK3 STAT5A STAT5B
43 interleukin-2-mediated signaling pathway GO:0038110 9.02 IL2 JAK1 JAK3 STAT5A STAT5B

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 9.54 IL2 IL4 IL9
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 IL2 JAK1 JAK3
3 cytokine activity GO:0005125 9.46 IL15 IL2 IL4 IL9
4 protein phosphatase binding GO:0019903 9.43 JAK1 JAK3 STAT6
5 protein tyrosine kinase activity GO:0004713 9.26 JAK1 JAK3 STAT5A STAT5B
6 cytokine receptor binding GO:0005126 8.8 IL15 IL4 IL9

Sources for Jak3-Deficient Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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