T-B+ severe combined immunodeficiency

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Subtype of: Jak3 deficiency
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
T-b+ scid
MONDO_0017855
CD247 Unknown
17170122 26690594 16672702 27555457 25688246 26542031
Open Targets
CD3D Unknown
21926461 15546002 14602880
Open Targets
CD3E Unknown
8490660 15546002
Open Targets
DCLRE1C Unknown
10416610 15731174 16540517 12055248 32092471 12406895 24144642 31393046 11336668 12569164 26476407
Open Targets
FOXN1 Unknown
29593714 15180707 28636882 21507891 10206641 31447097 11159512 28077132
Open Targets —
IL7R Unknown
9843216
Open Targets
JAK3 Unknown
7659163 7481768
Open Targets
LIG4 Unknown
20113890 16357942
Open Targets
ORAI1 Unknown
7798233 20004786 16582901 8814256
Open Targets
PNP Unknown
3029074 1384322
Open Targets
PTPRC Unknown
11145714 22689986 10700239
Open Targets
RAC2 Unknown
30654050 10758162 31071452 31382036 25512081 21167572 30723080 10961859 32198141 31919089
Open Targets
RAG1 Unknown
16960852 30046960 8810255
Open Targets
RAG2 Unknown
16960852 30046960
Open Targets
STAT5B Unknown
20538865 16920911 15827093 13679528 26703237 17030597 17389811 16787985 29844444
Open Targets
STIM1 Unknown
20876309 22190180 24570283 19420366 26560041 24621671
Open Targets
TBX1 Unknown
24198816 11242110 32086639 32048120 14585638
Open Targets —
T-B+ severe combined immunodeficiency due to JAK3 deficiency
MONDO_0010938
JAK3 Causal
10982185 11741532 14615376 17344846 7481768 7659163 9354668 9753072
ClinGen, Open Targets
All17 Causal1 Unknown17
Related Diseases Diseases that share the most curated genes with T-B+ severe combined immunodeficiency.
5 View disease cluster →
T-B- severe combined immunodeficiency 5 shared genesLIG4, RAG1, RAC2, RAG2, DCLRE1C Related via 5 shared genes including LIG4, RAG1, RAC2. Omenn syndrome 7 shared genesLIG4, JAK3, IL7R, PTPRC, RAG1, RAG2, DCLRE1C Related via 7 shared genes including LIG4, JAK3, IL7R. Severe combined immunodeficiency 12 shared genesLIG4, PNP, JAK3, IL7R, CD3E, PTPRC, CD247, FOXN1, CD3D, RAG1, RAG2, DCLRE1C Related via 12 shared genes including LIG4, PNP, JAK3. Severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 3 shared genesIL7R, PTPRC, CD3D Related via 3 shared genes including IL7R, PTPRC, CD3D. Combined immunodeficiency 8 shared genesTBX1, LIG4, ORAI1, PNP, STIM1, STAT5B, FOXN1, RAG1 Related via 8 shared genes including TBX1, LIG4, ORAI1.