Details of Disease

General Information of Disease (ID: DISNF0OI)

• Disease Name: Autoimmune thrombocytopenia
• Definition: An autoimmune form of thrombocytopenia.
• Disease Hierarchy:
  DISORMTM: Autoimmune disease
  DISU61YW: Thrombocytopenia
  DISNF0OI: Autoimmune thrombocytopenia
• Disease Identifiers:
  MONDO ID: MONDO_0019098
  UMLS CUI: C0242584
  MedGen ID: 116621
  HPO ID: HP:0001973
  Orphanet ID: 71203
  SNOMED CT ID: 128091003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL17D	TTC5LTG	Limited	Altered Expression	[1]
MPL	TTIHYA4	Limited	Biomarker	[2]
FCER1G	TTDGEC0	Strong	Biomarker	[3]
FCGRT	TTKLPHO	Strong	Biomarker	[4]
GP1BA	TTVB0Q9	Strong	Biomarker	[5]
GP6	TTTJUVZ	Strong	Biomarker	[6]
IL17F	TT2B6PS	Strong	Genetic Variation	[7]
ITGB3	TTJA1ZO	Strong	Biomarker	[8]
RHD	TTLCKI8	Strong	Biomarker	[9]
TCIRG1	TTVRN05	Strong	Altered Expression	[10]
THPO	TTCG5PE	Strong	Biomarker	[11]
TNFRSF13B	TTL9OD4	Strong	Genetic Variation	[12]
TNFSF13	TTOI1RM	Strong	Biomarker	[13]
TPO	TT52XDZ	Strong	Biomarker	[14]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL27	OTIS3OF8	Limited	Altered Expression	[1]
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]
RNF112	OT0Q9OUQ	Strong	Biomarker	[21]

References

• [1] 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.
• [2] 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.
• [3] 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.
• [4] 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.
• [5] The maternal immune response to fetal platelet GPIb causes frequent miscarriage in mice that can be prevented by intravenous IgG and anti-FcRn therapies.J Clin Invest. 2011 Nov;121(11):4537-47. doi: 10.1172/JCI57850. Epub 2011 Oct 24.
• [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] Mature murine megakaryocytes present antigen-MHC class I molecules to T cells and transfer them to platelets.Blood Adv. 2017 Sep 8;1(20):1773-1785. doi: 10.1182/bloodadvances.2017007021. eCollection 2017 Sep 12.
• [9] 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.
• [10] 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.
• [11] 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.
• [12] 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.
• [13] 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.
• [14] 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.
• [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.
• [21] Biologic false-positive serologic tests for syphilis and other serologic abnormalities in autoimmune hemolytic anemia and thrombocytopenic purpura.Medicine (Baltimore). 1989 Mar;68(2):67-84. doi: 10.1097/00005792-198903000-00001.