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Journal of Clinical Immunology

, Volume 39, Issue 8, pp 842–845 | Cite as

Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency

  • Herberto Jose Chong-Neto
  • Gesmar Rodrigues Silva Segundo
  • Márcia Bandeira
  • Débora Carla Chong-Silva
  • Cristine Secco Rosário
  • Carlos A. Riedi
  • Michael S. Hershfield
  • Hans Ochs
  • Troy Torgerson
  • Nelson Augusto Rosário
Letter to Editor
  • 34 Downloads

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...

Notes

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Herberto Jose Chong-Neto
    • 1
  • Gesmar Rodrigues Silva Segundo
    • 2
    • 4
  • Márcia Bandeira
    • 1
  • Débora Carla Chong-Silva
    • 1
  • Cristine Secco Rosário
    • 1
  • Carlos A. Riedi
    • 1
  • Michael S. Hershfield
    • 3
  • Hans Ochs
    • 4
  • Troy Torgerson
    • 4
  • Nelson Augusto Rosário
    • 1
  1. 1.Hospital de ClínicasFederal University of ParanáCuritibaBrazil
  2. 2.Hospital de ClínicasFederal University of UberlândiaUberlândiaBrazil
  3. 3.Department of Rheumatology and ImmunologyDuke University Medical CenterDurhamUSA
  4. 4.Seattle Children’s HospitalSeattleUSA

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