Dyskeratosis congenita associated with immune defects [15 genes]

Dyskeratosis congenita (DC) is a complex syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and predisposition to cancer.

T lymphocyte dysfunction is caused by a defect in telomerase complexes, whose function is to protect telomeres from degradation. When telomerase complexes do not function correctly, telomeres are unprotected and their degradation speeds up. DC is caused by alterations in the genes that encode the proteins that compose the telomerase and shelterin complexes.

  • 1/100.000 – 1/1.000.000 individuals

  • Diagnosis and genetic counseling
  • Anabolic steroids
  • Granulocyte colony-stimulating factors
  • Hematopoietic stem cell transplantation (HSCT)

  • Recurring infections
  • Ungual dystrophy
  • Leukoplakia
  • Skin pigmentation, white hair
  • Hypogammaglobulinemia
  • Increased risk of cancer
  • Onset: neonatal, infancy, childhood, adolescence

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Dyskeratosis congenita associated with immune defects

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008261

Updated (dd/mm/yy): 13/03/2025

Dyskeratosis congenita associated with immune defects: View panel
  • ACD
  • CTC1
  • DCLRE1B
  • DKC1
  • NHP2
  • NOP10
  • PARN
  • RTEL1
  • SAMD9
  • SAMD9L
  • STN1
  • TERT
  • TINF2
  • USB1
  • WRAP53

Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6(3):327-337. doi:10.1586/ehm.13.23
  2. Bar, C., Povedano, J. M., Serrano, R., Benitez-Buelga, C., Popkes, M., Formentini, I., … Blasco, M. A. (2016). Telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia. Blood, 127(14), 1770–1779. https://doi.org/10.1182/blood-2015-08-667485
  3. Baran I, Nalcaci R, Kocak M. Dyskeratosis congenita: clinical report and review of the literature. Int J Dent Hyg. 2010;8(1):68-74. doi:10.1111/j.1601-5037.2009.00364.x
  4. Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Dyskeratosis congenita: A combined immunodeficiency with broad clinical spectrum – a single-center pediatric experience. Pediatr Allergy Immunol. 2011;22(3):313-319. doi:10.1111/j.1399-3038.2010.01136.x
  5. Walne AJ, Bhagat T, Kirwan M, et al. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013;98(3):334-338. doi:10.3324/haematol.2012.071068

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