Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood

Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood

BackgroundDyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in childh...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser:	M. L. Uria-Oficialdegui, S. Navarro, L. Murillo-Sanjuan, C. Rodriguez-Vigil, M. I. Benitez-Carbante, C. Blazquez-Goñi, J. A. Salinas, C. Diaz-de-Heredia
Format:	Artikel
Sprache:	English
Veröffentlicht:	Frontiers Media S.A. 2023-08-01
Schriftenreihe:	Frontiers in Pediatrics
Schlagworte:	dyskeratosis congenita telomeres inherent bone marrow failure multisystem disease aplastic anaemia hematopoeietic stem cell transplantation
Online Zugang:	https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full

Ähnliche Einträge

Dyskeratosis Congenita and Short Telomeres in a Female Patient
von: Virgínia Vinha Zanuncio, et al.
Veröffentlicht: (2020-12-01)

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
von: Hemanth Tummala, et al.
Veröffentlicht: (2024-08-01)

Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review
von: Jiayi Geng, et al.
Veröffentlicht: (2022-12-01)

Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
von: Haider Nisar, et al.
Veröffentlicht: (2023-03-01)

Punctal and Canalicular Obstruction Associated with Dyskeratosis Congenita
von: Taner Kar, et al.
Veröffentlicht: (2015-01-01)

A case report of familial dyskeratosis congenital. Case report
von: Anton V. Luchkin, et al.
Veröffentlicht: (2021-07-01)

Telomere length of various blood and bone marrow cells in patients with aplastic anemia
von: A. V. Luchkin, et al.
Veröffentlicht: (2023-09-01)

Dyskeratosis Congenita- Management and Review of Complications: A Case Report
von: Shivam Sinha, et al.
Veröffentlicht: (2013-07-01)

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family
von: Caixia He, et al.
Veröffentlicht: (2019-07-01)

A patient with dyskeratosis congenita and portal hypertension
von: Min Wei, et al.
Veröffentlicht: (2023-06-01)

Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management
von: Anshuman Singh, et al.
Veröffentlicht: (2015-01-01)

A case report of dyskeratosis congenita associated with both psychosis and mood disorder
von: Vigneshvar Chandrasekaran, et al.
Veröffentlicht: (2018-01-01)

Dyskeratosis congenita presenting with dysphagia
von: Kalpana Gupta, et al.
Veröffentlicht: (2016-01-01)

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
von: Elena G. Arias-Salgado, et al.
Veröffentlicht: (2019-04-01)

Late Presentation of Dyskeratosis Congenita: Germline Predisposition to Adult-Onset Secondary Acute Myeloid Leukemia
von: Harry Ramos, et al.
Veröffentlicht: (2022-10-01)

Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in <i>Dictyostelium Discoideum</i>
von: Javier Rodriguez-Centeno, et al.
Veröffentlicht: (2019-11-01)

Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia
von: Unnati D. Desai, et al.
Veröffentlicht: (2017-01-01)

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
von: Benjaporn Panichareon, et al.
Veröffentlicht: (2015-08-01)

Dyskeratosis Congenita and Corneal Refractive Surgery
von: Madeline B. Heiland, et al.
Veröffentlicht: (2019-07-01)

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report
von: Ge Yu, et al.
Veröffentlicht: (2025-01-01)

X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene
von: Ayse Oktem, et al.
Veröffentlicht: (2024-01-01)

Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report
von: Yuxi Du, et al.
Veröffentlicht: (2024-07-01)

REVESZ SYNDROME AND DIFFERENTIAL DIAGNOSIS OF PANCYTOPENIA AND APLASTIC ANEMIA – CASE REPORT
von: Matjaž Homšak, et al.
Veröffentlicht: (2023-10-01)

Clinical examination still one of the best tools for diagnosis - " dyskeratosis congenita" - A case report
von: Ch.Deepthi Prasad, et al.
Veröffentlicht: (2012-01-01)

A petit telomere – A catalyst for bone marrow failure
von: A C Nirmala, et al.
Veröffentlicht: (2020-01-01)

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita
von: Yuan C, et al.
Veröffentlicht: (2022-09-01)

Pediatric cystectomy for refractory cystitis post-bone marrow transplant in dyskeratosis congenita: A case report
von: Eric Robinson, et al.
Veröffentlicht: (2022-09-01)

A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion
von: Takahisa Hirokawa, et al.
Veröffentlicht: (2021-05-01)

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
von: Moisés Ó. Fiesco-Roa, et al.
Veröffentlicht: (2022-08-01)

Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis
von: Jinhee Han, et al.
Veröffentlicht: (2023-01-01)

A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View
von: Sanaz Amin Guldmann, et al.
Veröffentlicht: (2022-05-01)

The Course of Dyskeratosis Congenita Masked by Crohn’s Disease in a Primary School-Age Child: Case Report
von: Evgeniy E. Bessonov, et al.
Veröffentlicht: (2024-12-01)

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry
von: Mareike Tometten, et al.
Veröffentlicht: (2021-09-01)

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad
von: Liqing Wang, et al.
Veröffentlicht: (2022-04-01)

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
von: Vithiya Ratnasamy, et al.
Veröffentlicht: (2018-05-01)

Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report
von: Motoko Watanabe, et al.
Veröffentlicht: (2019-04-01)

A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region
von: Jonathan W. Arthur, et al.
Veröffentlicht: (2021-05-01)

GSK3 inhibition rescues growth and telomere dysfunction in dyskeratosis congenita iPSC-derived type II alveolar epithelial cells
von: Rafael Jesus Fernandez, et al.
Veröffentlicht: (2022-05-01)

A “rotating menu” of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study
von: Emily E. Pearce, et al.
Veröffentlicht: (2024-12-01)

Cystic acantholytic dyskeratosis of the vulva: An unusual presentation of a follicular adnexal neoplasm
von: Kara Melissa Tiangco Torres, et al.
Veröffentlicht: (2016-01-01)