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Reduced granulocyte CD59 level

MedGen UID:
1619059
Concept ID:
C4531045
Finding
HPO: HP:0031555

Definition

Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced granulocyte CD59 level

Conditions with this feature

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
MedGen UID:
1684821
Concept ID:
C5201145
Disease or Syndrome
Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by Makrythanasis et al., 2016; Pode-Shakked et al., 2019). Genetic Heterogeneity of Glycosylphosphatidylinositol Biosynthesis Defects Also see GPIBD2 (239300), caused by mutation in the PIGV gene (610274); GPIBD3 (614080), caused by mutation in the PIGN gene (606097); GPIBD4 (300868), caused by mutation in the PIGA gene (311770); GPIBD5 (280000), caused by mutation in the PIGL gene (605947); GPIBD6 (614749), caused by mutation in the PIGO gene (614730); GPIBD7 (615398), caused by mutation in the PIGT gene (610272); GPIBD8 (614207), caused by mutation in the PGAP2 gene (615187); GPIBD9 (615802), caused by mutation in the PGAP1 gene (611655); GPIBD10 (615716), caused by mutation in the PGAP3 gene (611801); GPIBD11 (616025), caused by mutation in the PIGW gene (610275); GPIBD12 (616809), caused by mutation in the PIGY gene (610662); GPIBD13 (616917), caused by mutation in the PIGG gene (616918); GPIBD14 (617599), caused by mutation in the PIGP gene (605938); GPIBD15 (617810), caused by mutation in the GPAA1 gene (603048); GPIBD16 (617816), caused by mutation in the PIGC gene (601730); GPIBD17 (618010), caused by mutation in the PIGH gene (600154); GPIBD18 (618143), caused by mutation in the PIGS gene (610271); GPIBD19 (618548), caused by mutation in the PIGQ gene (605754); GPIBD20 (618580), caused by mutation in the PIGB gene (604122); GPIBD21 (618590), caused by mutation in the PIGU gene (608528); GPIBD22 (618879), caused by mutation in the PIGK gene (605087); GPIBD23 (617020), caused by mutation in the ARV1 gene (611647); GPIBD24 (619356), caused by mutation in the PIGF gene (600153); and GPIBD25 (619985), caused by mutation in the C18ORF32 gene (619979).

Professional guidelines

PubMed

Bongoni AK, Lu B, Salvaris EJ, Roberts V, Fang D, McRae JL, Fisicaro N, Dwyer KM, Cowan PJ
J Immunol 2017 Jun 15;198(12):4837-4845. Epub 2017 May 12 doi: 10.4049/jimmunol.1601943. PMID: 28500075

Recent clinical studies

Etiology

Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K
Ann Lab Med 2015 Jan;35(1):35-40. Epub 2014 Dec 8 doi: 10.3343/alm.2015.35.1.35. PMID: 25553278Free PMC Article
Grünewald M, Grünewald A, Schmid A, Schöpflin C, Schauer S, Griesshammer M, Koksch M
Platelets 2004 May;15(3):145-54. doi: 10.1080/09537105310001657110. PMID: 15203716
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
Yamamoto T, Shichishima T, Shikama Y, Saitoh Y, Ogawa K, Maruyama Y
Exp Hematol 2002 Mar;30(3):187-94. doi: 10.1016/s0301-472x(01)00783-4. PMID: 11882355
Dalhoff K, Hansen F, Drömann D, Schaaf B, Aries SP, Braun J
J Infect Dis 1998 Sep;178(3):891-5. doi: 10.1086/515350. PMID: 9728567

Diagnosis

Kahng J, Kim Y, Kim JO, Koh K, Lee JW, Han K
Ann Lab Med 2015 Jan;35(1):35-40. Epub 2014 Dec 8 doi: 10.3343/alm.2015.35.1.35. PMID: 25553278Free PMC Article
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
Gao W, Wang Z, Bai X, Li Y, Ruan C
Int J Hematol 2002 May;75(4):434-9. doi: 10.1007/BF02982138. PMID: 12041678
Yamamoto T, Shichishima T, Shikama Y, Saitoh Y, Ogawa K, Maruyama Y
Exp Hematol 2002 Mar;30(3):187-94. doi: 10.1016/s0301-472x(01)00783-4. PMID: 11882355
Edberg JC, Salmon JE, Whitlow M, Kimberly RP
J Clin Invest 1991 Jan;87(1):58-67. doi: 10.1172/JCI115001. PMID: 1702101Free PMC Article

Therapy

Roumenina LT, Chadebech P, Bodivit G, Vieira-Martins P, Grunenwald A, Boudhabhay I, Poillerat V, Pakdaman S, Kiger L, Jouard A, Audureau E, Pirenne F, Galactéros F, Frémeaux-Bacchi V, Bartolucci P
Am J Hematol 2020 May;95(5):456-464. Epub 2020 Feb 19 doi: 10.1002/ajh.25742. PMID: 31990387
Bongoni AK, Lu B, Salvaris EJ, Roberts V, Fang D, McRae JL, Fisicaro N, Dwyer KM, Cowan PJ
J Immunol 2017 Jun 15;198(12):4837-4845. Epub 2017 May 12 doi: 10.4049/jimmunol.1601943. PMID: 28500075
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
Dalhoff K, Hansen F, Drömann D, Schaaf B, Aries SP, Braun J
J Infect Dis 1998 Sep;178(3):891-5. doi: 10.1086/515350. PMID: 9728567

Clinical prediction guides

Roumenina LT, Chadebech P, Bodivit G, Vieira-Martins P, Grunenwald A, Boudhabhay I, Poillerat V, Pakdaman S, Kiger L, Jouard A, Audureau E, Pirenne F, Galactéros F, Frémeaux-Bacchi V, Bartolucci P
Am J Hematol 2020 May;95(5):456-464. Epub 2020 Feb 19 doi: 10.1002/ajh.25742. PMID: 31990387
Grünewald M, Grünewald A, Schmid A, Schöpflin C, Schauer S, Griesshammer M, Koksch M
Platelets 2004 May;15(3):145-54. doi: 10.1080/09537105310001657110. PMID: 15203716
Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R, Marchetti M
Hematology Am Soc Hematol Educ Program 2003:200-24. doi: 10.1182/asheducation-2003.1.200. PMID: 14633783
Jones J, Morgan BP
Immunology 1995 Dec;86(4):651-60. PMID: 8567034Free PMC Article
Edberg JC, Salmon JE, Whitlow M, Kimberly RP
J Clin Invest 1991 Jan;87(1):58-67. doi: 10.1172/JCI115001. PMID: 1702101Free PMC Article

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