期刊
PEDIATRIC BLOOD & CANCER
卷 65, 期 4, 页码 -出版社
WILEY
DOI: 10.1002/pbc.26912
关键词
ADA2 deficiency; anti-TNF; autoimmune lymphoproliferative syndrome
Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c. 882-2A > G. Patient responded to anti-tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy.
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