Details of Disease

General Information of Disease (ID: DISVCBNS)

• Disease Name: Immune thrombocytopenia
• Synonyms: thrombocytopenia due to platelet alloimmunization; immune thrombocytopenia; Immune Thrombocytopenia; thrombocytopenia due to immune destruction; auto-immune thrombocytopenia
• Disease Class: 3B64: Thrombocytopenia
• Definition: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).
• Disease Hierarchy:
  DISU61YW: Thrombocytopenia
  DISVCBNS: Immune thrombocytopenia
• ICD Code: ICD-11: ICD-11: 3B64
• Disease Identifiers:
  MONDO ID: MONDO_0002048
  UMLS CUI: C0272286
  MedGen ID: 75778
  SNOMED CT ID: 2897005

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
SAR445088	DMQV3IM	Phase 2	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL17D	TTC5LTG	Limited	Altered Expression	[2]
MPL	TTIHYA4	Limited	Biomarker	[3]
FCER1G	TTDGEC0	Strong	Biomarker	[4]
FCGRT	TTKLPHO	Strong	Biomarker	[5]
GP6	TTTJUVZ	Strong	Biomarker	[6]
IL17F	TT2B6PS	Strong	Genetic Variation	[7]
RHD	TTLCKI8	Strong	Biomarker	[8]
TCIRG1	TTVRN05	Strong	Altered Expression	[9]
THPO	TTCG5PE	Strong	Biomarker	[10]
TNFRSF13B	TTL9OD4	Strong	Genetic Variation	[11]
TNFSF13	TTOI1RM	Strong	Biomarker	[12]
TPO	TT52XDZ	Strong	Biomarker	[13]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL27	OTIS3OF8	Limited	Altered Expression	[2]
ITGA2B	OT4Y17PY	Limited	Biomarker	[14]
CD72	OTPOJID2	Strong	Altered Expression	[15]
CLEC1B	OTO38TRG	Strong	Biomarker	[6]
GFI1B	OTRDW8YO	Strong	Genetic Variation	[16]
GP5	OT3WGPR3	Strong	Biomarker	[17]
GP9	OTA19OKO	Strong	Altered Expression	[18]
KIR2DS5	OTXLEN11	Strong	Biomarker	[19]
MBD4	OTWR9YXE	Strong	Altered Expression	[20]

References

• [1] ClinicalTrials.gov (NCT04669600) A Multicenter, Phase 2a, Open-label, Non-randomized Study Evaluating the Efficacy, Safety, and Tolerability of BIVV020 in Adults With Persistent/Chronic Immune Thrombocytopenia (ITP). U.S.National Institutes of Health.
• [2] Increased interleukin-27 promotes Th1 differentiation in patients with chronic immune thrombocytopenia.Scand J Immunol. 2014 Oct;80(4):276-82. doi: 10.1111/sji.12197.
• [3] Increased microvesicle-associated thrombin generation in patients with immune thrombocytopenia after initiation of thrombopoietin receptor agonists.Platelets. 2020;31(3):322-328. doi: 10.1080/09537104.2019.1639655. Epub 2019 Jul 7.
• [4] An (II)(b) (3) antagonist prevents thrombosis without causing Fc receptor -chain IIa-mediated thrombocytopenia.J Thromb Haemost. 2017 Nov;15(11):2230-2244. doi: 10.1111/jth.13803. Epub 2017 Oct 9.
• [5] The neonatal Fc receptor (FcRn) is not required for IVIg or anti-CD44 monoclonal antibody-mediated amelioration of murine immune thrombocytopenia.Blood. 2011 Dec 8;118(24):6403-6. doi: 10.1182/blood-2011-08-374223. Epub 2011 Oct 14.
• [6] Significant Hypo-Responsiveness to GPVI and CLEC-2 Agonists in Pre-Term and Full-Term Neonatal Platelets and following Immune Thrombocytopenia.Thromb Haemost. 2018 Jun;118(6):1009-1020. doi: 10.1055/s-0038-1646924. Epub 2018 Apr 25.
• [7] Assessment of IL-17F rs763780 gene polymorphism in immune thrombocytopenia.Blood Cells Mol Dis. 2019 Mar;75:20-25. doi: 10.1016/j.bcmd.2018.12.001. Epub 2018 Dec 14.
• [8] RHD zygosity predicts degree of platelet response to anti-D immune globulin treatment in children with immune thrombocytopenia.Pediatr Blood Cancer. 2013 Sep;60(9):E106-8. doi: 10.1002/pbc.24574. Epub 2013 May 27.
• [9] Elevated levels of T-cell immune response cDNA 7 in patients with immune thrombocytopenia.Hematology. 2014 Dec;19(8):477-82. doi: 10.1179/1607845414Y.0000000156. Epub 2014 Mar 11.
• [10] Primary immune thrombocytopenia (ITP) treated with romiplostim in routine clinical practice: retrospective study from the United Kingdom ITP Registry.Eur J Haematol. 2019 May;102(5):416-423. doi: 10.1111/ejh.13221. Epub 2019 Mar 7.
• [11] A gain-of-function mutation in TNFRSF13B is a candidate for predisposition to familial or sporadic immune thrombocytopenia.J Thromb Haemost. 2017 Nov;15(11):2259-2269. doi: 10.1111/jth.13806. Epub 2017 Sep 13.
• [12] B-cell-activating factor, a proliferation inducing ligand and co-stimulatory molecules in the pathogenesis of immune thrombocytopenia in childhood.Blood Coagul Fibrinolysis. 2016 Jul;27(5):494-9. doi: 10.1097/MBC.0000000000000144.
• [13] Cytokine changes in response to TPO receptor agonist treatment in primary immune thrombocytopenia.Cytokine. 2017 Apr;92:110-117. doi: 10.1016/j.cyto.2017.01.013. Epub 2017 Jan 29.
• [14] Vincristine-loaded platelets coated with anti-CD41 mAbs: a new macrophage targeting proposal for the treatment of immune thrombocytopenia.Biomater Sci. 2019 Nov 1;7(11):4568-4577. doi: 10.1039/c9bm01026b. Epub 2019 Aug 15.
• [15] Upregulation of CD72 expression on CD19(+) CD27(+) memory Bcells by CD40L in primary immune thrombocytopenia.Br J Haematol. 2017 Jul;178(2):308-318. doi: 10.1111/bjh.14671. Epub 2017 Apr 17.
• [16] Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.Pediatr Blood Cancer. 2019 Sep;66(9):e27874. doi: 10.1002/pbc.27874. Epub 2019 Jun 17.
• [17] Glycoprotein V is a relevant immune target in patients with immune thrombocytopenia.Haematologica. 2019 Jun;104(6):1237-1243. doi: 10.3324/haematol.2018.211086. Epub 2019 Mar 28.
• [18] A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.Blood Coagul Fibrinolysis. 2020 Jan;31(1):83-86. doi: 10.1097/MBC.0000000000000868.
• [19] The presence of KIR2DS5 confers protection against adult immune thrombocytopenia.Tissue Antigens. 2014 Mar;83(3):154-60. doi: 10.1111/tan.12295. Epub 2014 Feb 12.
• [20] Decreased expression of MBD2 and MBD4 gene and genomic-wide hypomethylation in patients with primary immune thrombocytopenia.Hum Immunol. 2011 Jun;72(6):486-91. doi: 10.1016/j.humimm.2011.02.006. Epub 2011 Mar 3.