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Inherited bone marrow failure syndrome

MedGen UID:
458917
Concept ID:
C2986691
Disease or Syndrome
Synonyms: BMF Syndrome, Inherited; Bone Marrow Failure Syndromes, Congenital; Bone Marrow Failure Syndromes, Inherited; CBMFS; Congenital Bone Marrow Failure Syndrome; Congenital Bone Marrow Failure Syndromes; IBMFS; Inherited BMF Syndrome; Inherited BMF Syndromes; Inherited Bone Marrow Failure Syndrome; Inherited Bone Marrow Failure Syndromes

Definition

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited bone marrow failure syndrome

Professional guidelines

PubMed

Yoshida N
Int J Hematol 2024 Mar;119(3):240-247. Epub 2023 Mar 3 doi: 10.1007/s12185-023-03564-4. PMID: 36867357
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

Recent clinical studies

Etiology

McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069
Calado RT
Prog Mol Biol Transl Sci 2014;125:173-83. doi: 10.1016/B978-0-12-397898-1.00008-6. PMID: 24993703
Savage SA, Alter BP
Hematol Oncol Clin North Am 2009 Apr;23(2):215-31. doi: 10.1016/j.hoc.2009.01.003. PMID: 19327580Free PMC Article

Diagnosis

Yoshida N
Int J Hematol 2024 Mar;119(3):240-247. Epub 2023 Mar 3 doi: 10.1007/s12185-023-03564-4. PMID: 36867357
Chisholm KM, Bohling SD
Clin Lab Med 2023 Dec;43(4):639-655. Epub 2023 Aug 7 doi: 10.1016/j.cll.2023.06.005. PMID: 37865508
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

Therapy

McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185Free PMC Article
Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A
Blood Cells Mol Dis 2021 Mar;87:102510. Epub 2020 Nov 5 doi: 10.1016/j.bcmd.2020.102510. PMID: 33197791
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446

Prognosis

Onishi Y
Int J Hematol 2024 Mar;119(3):217-219. Epub 2024 Feb 4 doi: 10.1007/s12185-024-03715-1. PMID: 38310173
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069
Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446
Glaubach T, Robinson LJ, Corey SJ
J Pediatr Hematol Oncol 2014 Jan;36(1):1-7. doi: 10.1097/MPH.0000000000000046. PMID: 24345881

Clinical prediction guides

McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185Free PMC Article
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Rütschle H, Schwabe D, Scott RH, Unal S, Wawer A, Zeller B, Ballmaier M
Blood Adv 2018 Mar 27;2(6):586-596. doi: 10.1182/bloodadvances.2018016501. PMID: 29540340Free PMC Article
Alter BP, Giri N, Savage SA, Rosenberg PS
Blood 2009 Jun 25;113(26):6549-57. Epub 2009 Mar 12 doi: 10.1182/blood-2008-12-192880. PMID: 19282459Free PMC Article

Recent systematic reviews

Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446

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