AUTHOR=Tripodi Serena I. , Corti Paola , Giliani Silvia , Lanfranchi Arnalda , Biondi Andrea , Badolato Raffaele 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=6

YEAR=2018

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2018.00272

DOI=10.3389/fped.2018.00272

ISSN=2296-2360

ABSTRACT=<p>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 <italic>ADA</italic> 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.</p>