Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

TERC Deficiency

  • Nicholas L. RiderEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_208-1
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Introduction

TERC encodes the telomerase RNA component which functions as a template for telomere elongation (Feng et al. 1995). The gene is 451 nucleotides in length and is located at 3p26.2 (Feng et al. 1995). Human telomerase is a ribonucleoprotein complex which functions to maintain telomere length during normal cell division through controlled elongation thereby preventing shortening and ensuing cell cycle arrest and cell death (Du et al. 2009). Telomerase has two components: the reverse transcriptase (TERT) and the template RNA component, or TERC. Mono-allelic pathogenic mutations in TERC lead to dyskeratosis congenita, pulmonary fibrosis, and/or bone marrow failure in addition to susceptibilities to cutaneous malignant melanoma and leukemia (Armanios et al. 2005; Calado et al. 2009).

Clinical Relevance

Patients with TERC pathogenic mutations might develop dyskeratosis congenita (DC) (Mitchell et al. 1999). DC is characterized by progressive bone marrow failure, including...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2020

Authors and Affiliations

  1. 1.Section of Immunology, Allergy and Retrovirology, Department of Pediatrics, Baylor College of MedicineTexas Children’s HospitalHoustonUSA

Section editors and affiliations

  • Javier Chinen
    • 1
  1. 1.Division of Allergy and Immunology, Department of PediatricsBaylor College of Medicine, Texas Children’s HospitalThe WoodlandsUSA