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Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 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.  1, record 1, English, - combined%20immunodeficiency%20secondary%20to%20ADA%20enzyme%20deficiency

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 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.  1, record 1, French, - d%C3%A9ficit%20immunitaire%20combin%C3%A9%20s%C3%A9v%C3%A8re%20associ%C3%A9%20%C3%A0%20un%20d%C3%A9ficit%20en%20ad%C3%A9nosine%20d%C3%A9saminase

Record 1,  Textual support,  Spanish