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Case Report

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia

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Pages 376-381 | Received 18 Apr 2019, Accepted 16 May 2019, Published online: 14 Sep 2019

References

  • Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–931. doi: 10.1056/NEJMoa1307362.
  • Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–920. doi: 10.1056/NEJMoa1307361.
  • Kisla Ekinci RM, Balci S, Bisgin A, et al. Renal amyloidosis in deficiency of adenosine deaminase 2: successful experience with Canakinumab. Pediatrics 2018;142(5). pii: e20180948. doi: 10.1542/peds.2018-0948.
  • Trotta L, Martelius T, Siitonen T, et al. ADA2 deficiency: clonal lymphoproliferation in a subset of patients. J Allergy Clin Immunol. 2018;141(4):1534–1537.e8. doi: 10.1016/j.jaci.2018.01.012.
  • Alsultan A, Basher E, Alqanatish J, Mohammed R, Alfadhel M. Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. Pediatr Blood Cancer 2018;65:e26912.
  • Michniacki TF, Hannibal M, Ross CW, et al. Hematologic manifestations of deficiency of adenosine deaminase 2 (DADA2) and response to tumor necrosis factor inhibition in DADA2-associated bone marrow failure. J Clin Immunol. 2018;38(2):166–173. doi: 10.1007/s10875-018-0480-4.
  • Cipe FE, Aydogmus C, Serwas NK, Keskindemirci G, Boztuğ K. Novel mutation in CECR1 leads to deficiency of ADA2 with associated neutropenia. J Clin Immunol. 2018;38(3):273–277. doi: 10.1007/s10875-018-0487-x.
  • Schepp J, Bulashevska A, Mannhardt-Laakmann W, et al. Deficiency of adenosine deaminase 2 causes antibody deficiency. J Clin Immunol. 2016;36(3):179–186. doi: 10.1007/s10875-016-0245-x.
  • Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–578. doi: 10.1007/s10875-018-0525-8.
  • Ben-Ami T, Revel-Vilk S, Brooks R, et al. Extending the clinical phenotype of adenosine deaminase 2 deficiency. J Pediatr. 2016;177:316–320. doi: 10.1016/j.jpeds.2016.06.058.
  • Sahin S, Adrovic A, Barut K, et al. Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. Rheumatol Int. 2018;38(1):129–136. doi: 10.1007/s00296-017-3740-3.

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