Article

Reticular Dysgenesis-associated Adenylate Kinase 2 deficiency causes failure of myelopoiesis through disordered purine metabolism

2021-07-06

Abstract excerpt

<h4>ABSTRACT</h4> Reticular Dysgenesis is a particularly grave form of severe combined immunodeficiency that affects the adaptive and innate immune system. Patients suffer from congenital neutropenia, lymphopenia, and deafness. The disease is caused by biallelic loss of function in mitochondrial Adenylate Kinase 2 (AK2). AK2 mediates the phosphorylation of AMP to ADP, as substrate for ATP synthesis. Accordingly,...

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Literature Corpus work: 19d48b66-3931-57f8-98b1-ae29fe139b9f
DOI: 10.1101/2021.07.05.450633

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