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COMBINED IMMUNODEFICIENCY SECONDARY ADA 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
CONT

(...) le déficit immunitaire combiné sévère associé à un déficit en adénosine désaminase (ADA). L'affection est transmise de façon autosomique récessive (le gène de l'ADA est situé sur le chromosome 20). Elle est souvent associée à certaines anomalies du squelette.

Spanish

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