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COMBINED IMMUNODEFICIENCY SECONDARY ENZYME DEFICIENCY [1 record]

Record 1 1993-02-11

English

Subject field(s)
  • Immunology
CONT

Combined immunodeficiency secondary to enzyme deficiency. Two enzyme deficiency disorders have been found to cause severe combined immunodeficiency. These enzymes are necessary for the metabolism of purines: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP). The enzyme deficiency is inherited as an autosomal recessive disorder. Deficiency of ADA or PNP leads to intracellular accumulation of deoxy-adenosine or deoxyguanine, respectively, resulting in inhibition of lymphocyte function.

French

Domaine(s)
  • Immunologie
DEF

Déficit enzymatique qui touche (...) le métabolisme des purines (et qui) est responsable d'un défaut prédominant de l'immunité cellulaire. Les premiers signes infectieux apparaissent tardivement après l'âge d'un an.

Spanish

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