Details of Disease

General Information of Disease (ID: DIS24CGE)

Disease Name	XIAP deficiency
Synonyms	XIAP-related lymphoproliferative disease, X-linked; lymphoproliferative syndrome, X-linked, 2; Xiap deficiency; X-linked lymphoproliferative disease due to XIAP deficiency; lymphoproliferative syndrome, X-linked, type 2; XLP2; X-linked lymphoproliferative syndrome type 2; XIAP deficiency/XLPs; XIAP deficiency; lymphoproliferative syndrome, X-linked, 2, X-linked recessive
Disease Class	4A01: Adaptive immunity immunodeficiency
Definition	A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.
Disease Hierarchy	DISHZGSA: X-linked recessive disease DISA7MJ4: X-linked lymphoproliferative syndrome DIS24CGE: XIAP deficiency
ICD Code	ICD-11 ICD-11: 4A01.22
Disease Identifiers	MONDO ID MONDO_0010385 MESH ID C564469 UMLS CUI C1845076 OMIM ID 300635 MedGen ID 336848 Orphanet ID 538934 SNOMED CT ID 1162830004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Tadekinig alfa	DM1NTVQ	Phase 3	Recombinant protein	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XIAP	OT24GP9B	Strong	X-linked	[2]
SH2D1A	OTLU49I5	Strong	Biomarker	[3]
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This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APCS	TTB7VAT	Limited	Biomarker	[3]
NOD2	TTYPUHA	Limited	Genetic Variation	[4]
XIAP	TTR7B60	Strong	X-linked	[2]
XIAP	TTK3WBU	Strong	Genetic Variation	[3]
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References

1	ClinicalTrials.gov (NCT03512314) Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency as Open Label Extension. U.S. National Institutes of Health.
2	XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257.
3	X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.Eur J Pediatr. 2020 Feb;179(2):327-338. doi: 10.1007/s00431-019-03512-7. Epub 2019 Nov 21.
4	Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.Gut. 2017 Jun;66(6):1060-1073. doi: 10.1136/gutjnl-2015-310382. Epub 2016 Mar 7.