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Bone marrow arrest at the promyelocytic stage

MedGen UID:
1781449
Concept ID:
C5539718
Cell or Molecular Dysfunction
HPO: HP:0033607

Definition

A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBone marrow arrest at the promyelocytic stage

Conditions with this feature

X-linked severe congenital neutropenia
MedGen UID:
335314
Concept ID:
C1845987
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.

Recent clinical studies

Etiology

Monaco WE, Jones JD, Rigby WF
Clin Rheumatol 2016 Oct;35(10):2457-62. Epub 2016 May 21 doi: 10.1007/s10067-016-3313-y. PMID: 27209045
McCormick S, Nelson A, Nauseef WM
Arch Biochem Biophys 2012 Nov 1;527(1):31-6. Epub 2012 Aug 10 doi: 10.1016/j.abb.2012.07.013. PMID: 22902565Free PMC Article
Walkovich K, Boxer LA
J Perinatol 2011 Apr;31 Suppl 1:S22-3. doi: 10.1038/jp.2010.166. PMID: 21448199
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359

Diagnosis

Shlapatska L, Gordiienko I, Polishchuk A, Gluzman D
Exp Oncol 2022 Nov;44(3):198-207. doi: 10.32471/exp-oncology.2312-8852.vol-44-no-3.18307. PMID: 36325710
Erdős M, Boyarchuk O, Maródi L
Front Immunol 2022;13:975017. Epub 2022 Sep 8 doi: 10.3389/fimmu.2022.975017. PMID: 36159802Free PMC Article
Walkovich K, Boxer LA
J Perinatol 2011 Apr;31 Suppl 1:S22-3. doi: 10.1038/jp.2010.166. PMID: 21448199
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585
Davison K, Mann KK, Miller WH Jr
Semin Hematol 2002 Apr;39(2 Suppl 1):3-7. doi: 10.1053/shem.2002.33610. PMID: 12012315

Therapy

Erdős M, Boyarchuk O, Maródi L
Front Immunol 2022;13:975017. Epub 2022 Sep 8 doi: 10.3389/fimmu.2022.975017. PMID: 36159802Free PMC Article
Monaco WE, Jones JD, Rigby WF
Clin Rheumatol 2016 Oct;35(10):2457-62. Epub 2016 May 21 doi: 10.1007/s10067-016-3313-y. PMID: 27209045
Larsen MT, Hother C, Häger M, Pedersen CC, Theilgaard-Mönch K, Borregaard N, Cowland JB
PLoS One 2013;8(3):e58454. Epub 2013 Mar 12 doi: 10.1371/journal.pone.0058454. PMID: 23554893Free PMC Article
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359
Davison K, Mann KK, Miller WH Jr
Semin Hematol 2002 Apr;39(2 Suppl 1):3-7. doi: 10.1053/shem.2002.33610. PMID: 12012315

Prognosis

Shlapatska L, Gordiienko I, Polishchuk A, Gluzman D
Exp Oncol 2022 Nov;44(3):198-207. doi: 10.32471/exp-oncology.2312-8852.vol-44-no-3.18307. PMID: 36325710
Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M
Blood Cells Mol Dis 2019 May;76:1-6. Epub 2018 Aug 10 doi: 10.1016/j.bcmd.2018.07.001. PMID: 30473482
Monaco WE, Jones JD, Rigby WF
Clin Rheumatol 2016 Oct;35(10):2457-62. Epub 2016 May 21 doi: 10.1007/s10067-016-3313-y. PMID: 27209045
McCormick S, Nelson A, Nauseef WM
Arch Biochem Biophys 2012 Nov 1;527(1):31-6. Epub 2012 Aug 10 doi: 10.1016/j.abb.2012.07.013. PMID: 22902565Free PMC Article
Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A
J Clin Immunol 2007 Sep;27(5):525-33. Epub 2007 Jun 21 doi: 10.1007/s10875-007-9106-y. PMID: 17587155

Clinical prediction guides

Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M
Blood Cells Mol Dis 2019 May;76:1-6. Epub 2018 Aug 10 doi: 10.1016/j.bcmd.2018.07.001. PMID: 30473482
McCormick S, Nelson A, Nauseef WM
Arch Biochem Biophys 2012 Nov 1;527(1):31-6. Epub 2012 Aug 10 doi: 10.1016/j.abb.2012.07.013. PMID: 22902565Free PMC Article
Zeidler C, Germeshausen M, Klein C, Welte K
Br J Haematol 2009 Feb;144(4):459-67. Epub 2008 Dec 10 doi: 10.1111/j.1365-2141.2008.07425.x. PMID: 19120359
Bjerregaard MD, Jurlander J, Klausen P, Borregaard N, Cowland JB
Blood 2003 Jun 1;101(11):4322-32. Epub 2003 Jan 30 doi: 10.1182/blood-2002-03-0835. PMID: 12560239
Aprikyan AA, Liles WC, Boxer LA, Dale DC
J Pediatr Hematol Oncol 2002 Dec;24(9):784-6. doi: 10.1097/00043426-200212000-00025. PMID: 12468929

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