Work

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia

Year: 2018

Type: article

Abstract: We describe a previously healthy 14- year-old girl with acute onset autoimmune hemolytic anemia, associated with severe but transient lymphopenia during corticosteroid therapy, without infectious episodes during follow-up. After detailed investigations to rule out an underlying immunodeficiency, we detected a heterozygous ADA gene mutation. This was associated with slightly increased blood levels of adenosine and deoxyadenosine nucleotides and with reduced ADA activity in red blood cells, but within the normal range. This observation suggests that heterozygous ADA mutation might be a predisposing factor for lymphopenia in patients receiving corticosteroid therapy.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2018.00272

Authors: Serena I. Tripodi, Paola Corti, Silvia Giliani, Arnalda Lanfranchi, Andrea Biondi, Raffaele Badolato

Institutions: Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, University of Brescia, University of Milano-Bicocca

Language: English

Topic: Biochemical and Molecular Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801