. DEFECTS OF ADAPTIVE IMMUNITY .

Dyskeratosis Congenita (DKC) panel [16 genes]

Dyskeratosis congenita (DKC) is a complex syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and predisposition to cancer. The reduced T cell function results from a dysfunction of the telomerase complexes, whose function is to protect the telomeres from degradation. When telomerase complexes do not function correctly, telomeres cannot be protected and degradation is accelerated. DKC is caused by mutations in the genes encoding the proteins that compose the telomerase and shelterin complexes.

Clinical features

  • Recurrent infections
  • Nail dystrophy
  • Leucoplakia
  • Skin pigmentation, grey hair
  • Hypogammaglobulinemia
  • Cancer predisposition
  • Onset: neonatal, infancy, childhood, adolescent, adulthood

Prevalence

  • 1:100,000-1:1,000,000

Service benefits and management

  • Genetic diagnosis and counsellingAnabolic steroids
  • Granulocyte stimulation factors
  • Hematopoietic stem cell transplantation (HSCT)

ACD, DCLRE1B, NHP2, PARN, SAMD9, STN1, TERT, USB1, CTC1, DKC1, NOP10, RTEL1, SAMD9L, TERC, TINF2, WRAP53

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