Details of Disease

General Information of Disease (ID: DIS6MF4Q)

Disease Name	Severe combined immunodeficiency
Synonyms	combined T and B cell inborn immunodeficiency; severe combined immunodeficiency; severe combined immunodeficiency (disease); SCID; severe combined immunodeficiency disease
Disease Class	4A01: Adaptive immunity immunodeficiency
Definition	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
Disease Hierarchy	DISKR6QJ: Combined immunodeficiency DIS6MF4Q: Severe combined immunodeficiency
ICD Code	ICD-11 ICD-11: 4A01.10
Disease Identifiers	MONDO ID MONDO_0015974 MESH ID D016511 UMLS CUI C0085110 MedGen ID 88328 HPO ID HP:0004430 Orphanet ID 183660 SNOMED CT ID 31323000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
OTL-101	DMLMS6J	Phase 3	Gene therapy	[1]
MB-107	DM15WU4	Phase 1/2	Gene therapy	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 25 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NOD1	TTYSRXM	Limited	Biomarker	[3]
CD19	TTW640A	Strong	Biomarker	[4]
CD34	TTZAVYN	Strong	Biomarker	[5]
CD3G	TTV3XPL	Strong	Biomarker	[6]
CYP2J2	TTNE1C7	Strong	Biomarker	[7]
EBI3	TTJF68X	Strong	Biomarker	[8]
IFNAR2	TTMQB37	Strong	Biomarker	[9]
IL15	TTJFA35	Strong	Biomarker	[10]
IL21R	TTZO9B0	Strong	Genetic Variation	[11]
IL7	TT8FRMO	Strong	Biomarker	[12]
IL7R	TTAWI51	Strong	Biomarker	[13]
JAK3	TTT7PJU	Strong	Genetic Variation	[14]
MELTF	TT8OBT3	Strong	Altered Expression	[15]
MIA	TT5HNVS	Strong	Biomarker	[16]
MLANA	TT362RB	Strong	Biomarker	[17]
MS4A1	TTUE541	Strong	Biomarker	[18]
OTC	TT5KIO9	Strong	Biomarker	[19]
PNP	TTMCF1Y	Strong	Biomarker	[20]
PRKDC	TTK3PY9	Strong	Genetic Variation	[21]
PTPRC	TTUS45N	Strong	Biomarker	[22]
SLC46A1	TTY8Z2E	Strong	Genetic Variation	[23]
SRGN	TTCHB06	Strong	Altered Expression	[24]
TFRC	TT8MG4S	Strong	Biomarker	[25]
CD3E	TTZAT79	Definitive	Biomarker	[26]
ORAI1	TTE76YK	Definitive	Genetic Variation	[27]
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⏷ Show the Full List of 25 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC20A1	DTMULXV	Strong	Altered Expression	[28]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AK2	DEY1FJO	Strong	Biomarker	[29]
LDHC	DEQG7F9	Strong	Biomarker	[30]
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This Disease Is Related to 60 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRM3	OT6574BF	Limited	Genetic Variation	[31]
RASGRP3	OTEMEV3P	Limited	Biomarker	[32]
TAPBP	OTL81AVZ	Disputed	Biomarker	[33]
BCL11B	OT8KKCVJ	moderate	Biomarker	[34]
CARD11	OTRCTLYC	moderate	Genetic Variation	[35]
CD247	OT45FGUX	moderate	Biomarker	[36]
FUT1	OTODG57A	moderate	Genetic Variation	[37]
POTEF	OTV3WXYE	moderate	Biomarker	[38]
STIM1	OT8CLQ1W	moderate	Altered Expression	[39]
TBX1	OTQLBPRA	moderate	Biomarker	[40]
ABCE1	OTH19LOA	Strong	Biomarker	[18]
ACTR2	OT3C8U5T	Strong	Biomarker	[41]
AIRE	OTA7G1Y1	Strong	Altered Expression	[42]
APBB1IP	OTN02KUV	Strong	Biomarker	[43]
ASAP2	OTGEXULW	Strong	Biomarker	[44]
CCDC54	OTW5WCX9	Strong	Biomarker	[45]
CD3D	OTRBLP0R	Strong	Genetic Variation	[46]
CDH17	OT9EV2XK	Strong	Genetic Variation	[47]
CER1	OTTAJJ63	Strong	Biomarker	[48]
CHD7	OTHNIZWZ	Strong	Genetic Variation	[49]
CORO1A	OTVAZOHC	Strong	Biomarker	[50]
DCLRE1A	OT68PVSD	Strong	Biomarker	[51]
DCLRE1C	OTW3KB1I	Strong	Genetic Variation	[52]
DOCK2	OTZTS3PA	Strong	Biomarker	[53]
DOCK8	OTNQLL21	Strong	Biomarker	[53]
EMP2	OTPS2H0L	Strong	Altered Expression	[54]
EXTL3	OT2BRUBN	Strong	Biomarker	[55]
FOXN1	OTE80D6I	Strong	Genetic Variation	[56]
GPC5	OT8NR7GC	Strong	Altered Expression	[57]
HIF3A	OTPWAAMC	Strong	Altered Expression	[58]
HPCA	OTERUPP6	Strong	Biomarker	[59]
IER3	OTZJI5FZ	Strong	Altered Expression	[60]
IL18R1	OT83XMPQ	Strong	Biomarker	[8]
LBR	OT1HG3HG	Strong	Biomarker	[61]
LIG4	OT40DNXU	Strong	Biomarker	[62]
MRPS30	OTDXIAGG	Strong	Biomarker	[44]
MTHFD1	OTMKHVWC	Strong	Biomarker	[63]
MTHFD1L	OTV01EFP	Strong	Genetic Variation	[64]
MTPAP	OT6HQ02S	Strong	Biomarker	[44]
MYO1E	OTM9YSIZ	Strong	Altered Expression	[65]
NHEJ1	OTYOO05J	Strong	Genetic Variation	[66]
PACC1	OTKBS8CC	Strong	Biomarker	[48]
PAPOLA	OTPHD65D	Strong	Biomarker	[44]
PAX1	OT0Y3MIM	Strong	Biomarker	[67]
PDAP1	OTJSWMOD	Strong	Biomarker	[44]
PDHX	OTG7O271	Strong	Biomarker	[16]
PDLIM7	OTAZVODU	Strong	Genetic Variation	[68]
PHB2	OTCAX3AW	Strong	Biomarker	[69]
PKIG	OTOIWE5G	Strong	CausalMutation	[70]
POU1F1	OTXT8A5C	Strong	Altered Expression	[28]
PRMT6	OT5V3XIN	Strong	Altered Expression	[71]
PSMA6	OTJ6RPX5	Strong	Altered Expression	[65]
RFXAP	OTX46DKQ	Strong	Altered Expression	[72]
RTL1	OTOT33IM	Strong	Altered Expression	[17]
SOX1	OTVI1RAR	Strong	Biomarker	[73]
SP110	OTFW6WH7	Strong	Genetic Variation	[74]
SPA17	OT8J7T7U	Strong	Biomarker	[45]
TCN2	OT41D0L3	Strong	Biomarker	[75]
TTC7A	OTDHLPQM	Strong	Genetic Variation	[76]
LDLRAP1	OT6QTX7R	Definitive	Biomarker	[77]
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⏷ Show the Full List of 60 DOT(s)

References

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