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Dyskeratosis Congenita, Recessive

MedGen UID:
893367
Concept ID:
CN239315
Disease or Syndrome

Recent clinical studies

Etiology

Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B
Clin Immunol 2023 Dec;257:109837. Epub 2023 Nov 8 doi: 10.1016/j.clim.2023.109837. PMID: 37944684
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Savage SA
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. PMID: 36485133Free PMC Article
Khincha PP, Savage SA
Semin Fetal Neonatal Med 2016 Feb;21(1):57-65. Epub 2015 Dec 24 doi: 10.1016/j.siny.2015.12.003. PMID: 26724991Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article

Diagnosis

Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B
Clin Immunol 2023 Dec;257:109837. Epub 2023 Nov 8 doi: 10.1016/j.clim.2023.109837. PMID: 37944684
Khincha PP, Savage SA
Semin Fetal Neonatal Med 2016 Feb;21(1):57-65. Epub 2015 Dec 24 doi: 10.1016/j.siny.2015.12.003. PMID: 26724991Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Handley TP, McCaul JA, Ogden GR
Oral Oncol 2006 Apr;42(4):331-6. Epub 2005 Sep 2 doi: 10.1016/j.oraloncology.2005.06.007. PMID: 16140563
Marrone A, Mason PJ
Cell Mol Life Sci 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. PMID: 12737310

Therapy

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
Chen RL, Lin KK, Chen LY
Int J Mol Sci 2019 Jul 2;20(13) doi: 10.3390/ijms20133261. PMID: 31269755Free PMC Article
Xu J, Khincha PP, Giri N, Alter BP, Savage SA, Wong JM
Am J Hematol 2016 Dec;91(12):1215-1220. Epub 2016 Nov 4 doi: 10.1002/ajh.24545. PMID: 27570172Free PMC Article
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B
Clin Immunol 2023 Dec;257:109837. Epub 2023 Nov 8 doi: 10.1016/j.clim.2023.109837. PMID: 37944684
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free PMC Article
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
Blood 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4 doi: 10.1182/blood-2006-12-062851. PMID: 17785587Free PMC Article
de la Fuente J, Dokal I
Pediatr Transplant 2007 Sep;11(6):584-94. doi: 10.1111/j.1399-3046.2007.00721.x. PMID: 17663679
Marrone A, Mason PJ
Cell Mol Life Sci 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. PMID: 12737310

Clinical prediction guides

Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N
Hepatology 2023 Dec 1;78(6):1777-1787. Epub 2023 May 16 doi: 10.1097/HEP.0000000000000461. PMID: 37184208Free 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
Abdollahi M, Gao MM, Munoz DG
Clin Neuropathol 2018 Nov/Dec;37(6):277-282. doi: 10.5414/NP301088. PMID: 30106361
Happle R
Acta Paediatr Suppl 2006 Apr;95(451):16-23. doi: 10.1080/08035320600618775. PMID: 16720460
Marrone A, Mason PJ
Cell Mol Life Sci 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. PMID: 12737310

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