Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome

Author:

Nikolajeva Olga,Worth Austen,Hague Rosie,Martinez-Alier Nuria,Smart Joanne,Adams Stuart,Davies E. Graham,Gaspar H. Bobby

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference46 articles.

1. Sauer AV, Brigida I, Carriglio N, Aiuti A. Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol. 2012;3:265.

2. Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972;2(7786):1067–9.

3. Hirschhorn R, Ratech H. Isozymes of adenosine deaminase. Isozymes Curr Top Biol Med Res. 1980;4:131–57.

4. Hirschhorn R, Nicknam MN, Eng F, Yang DR, Borkowsky W. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency. J Immunol. 1992;149(9):3107–12.

5. Apasov SG, Blackburn MR, Kellems RE, Smith PT, Sitkovsky MV. Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling. J Clin Invest. 2001;108(1):131–41.

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