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.