Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Gelijkaardige items

• Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry
  door: Kuo, Caroline Y., et al.
  Gepubliceerd in: (2020)
• Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.
  door: Valerio, D, et al.
  Gepubliceerd in: (1984)
• Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.
  door: Hirschhorn, R, et al.
  Gepubliceerd in: (1986)
• Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
  door: Tzall, S, et al.
  Gepubliceerd in: (1989)
• Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency
  door: Cicalese, Maria Pia, et al.
  Gepubliceerd in: (2016)