Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency
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To the Editor:
One recently discovered immune dysregulation syndromes is deficiency of adenosine deaminase 2 (DADA 2) caused by biallelic loss of function mutations in ADA2, previously known as CECR1 [1, 2, 3]. The clinical phenotype of DADA2 was initially described as intermittent fevers, early-onset ischemic or hemorrhagic strokes and other neurovascular manifestations, livedo reticularis, polyarteritis nodosa hepatosplenomegaly, systemic vasculopathy, and hypogammaglobulinemia [1, 2, 3]. Subsequently, case reports suggested that DADA2 patients may present with a highly variable clinical phenotype and that many symptoms are responsive to therapy with anti-tumor necrosis factor agents, including cytopenia and bone marrow failure [4, 5, 6, 7].
Here, we present a Brazilian girl with recurrent ischemic and hemorrhagic strokes starting at age 18 months who at 6 years of age was diagnosed with a homozygous splice mutation in the CECR1 gene.
The patient was born to healthy...
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Conflict of Interest
The authors declare that they have no conflict of interest.
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