KEGG   DISEASE: Immune thrombocytopeniaHelp
Entry
H01240                      Disease                                

Name
Immune thrombocytopenia;
Autoimmune thrombocytopenic purpura
Description
Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing phagocytic cells in the reticuloendothelial system plays an important role. ITP is diagnosed clinically, based upon onset of thrombocytopenia in the absence of other hematologic abnormalities, or other causes of low platelets, and with a characteristic blood smear. While around 50% of typical childhood acute ITP is preceded by a viral or bacterial infection and commonly resolves within weeks to months without treatment, fewer adult cases are acute and self-resolving. Typical adult primary ITP is very similar clinically to chronic pediatric ITP. Intravenous immunoglobulin (IVIg) treatment and splenectomy (removal of the platelet-destructing organ) are effective treatment options. It has been reported that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory Fc[gamma]R on immune cells.
Category
Primary immunodeficiency; Hematologic disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01240  Immune thrombocytopenia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B64  Thrombocytopenia
    H01240  Immune thrombocytopenia
BRITE hierarchy
Pathway
hsa04145  Phagosome
hsa04380  Osteoclast differentiation
hsa04666  Fc gamma R-mediated phagocytosis
Gene
FCGR2C [HSA:9103] [KO:K16824]
Env factor
Quinine [CPD:C06526]
Trimethoprim-sulfamethoxazole
Pathogen
Hepatitis C virus
Human immunodeficiency virus
Helicobacter pylori
Drug
Prednisone [DR:D00473]
Romiplostim [DR:D08990]
Eltrombopag olamine [DR:D03978]
Fostamatinib disodium [DR:D09348]
Methylprednisolone sodium succinate [DR:D00751]
Other DBs
ICD-11: 3B64.10
ICD-10: D69.3
MeSH: D016553
OMIM: 188030
Reference
PMID:21632906 (description, environmental factor, drug)
  Authors
McCrae K
  Title
Immune thrombocytopenia: no longer 'idiopathic'.
  Journal
Cleve Clin J Med 78:358-73 (2011)
DOI:10.3949/ccjm.78gr.10005
Reference
  Authors
Cines DB, McMillan R
  Title
Pathogenesis of chronic immune thrombocytopenic purpura.
  Journal
Curr Opin Hematol 14:511-4 (2007)
DOI:10.1097/MOH.0b013e3282ba5552
Reference
  Authors
Bergmann AK, Grace RF, Neufeld EJ
  Title
Genetic studies in pediatric ITP: outlook, feasibility, and requirements.
  Journal
Ann Hematol 89:S95-103 (2010)
DOI:10.1007/s00277-009-0865-9
Reference
  Authors
Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, Roos D, de Haas M, Koene HR, Kuijpers TW
  Title
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.
  Journal
Blood 111:1029-38 (2008)
DOI:10.1182/blood-2007-03-079913
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