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Paediatrics and International Child Health Volume 40, 2020 - Issue 1
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Case Reports

A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α

Sezgin SahinDepartment of Paediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, TurkeyCorrespondence[email protected]
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,
Amra AdrovicDepartment of Paediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Kenan BarutDepartment of Paediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Selen BaranDepartment of Paediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Eda Tahir TuranliDepartment of Molecular Biology and Genetics, Faculty of Science and Letters, Istanbul Technical University, Istanbul, Turkey
,
Nur CanpolatDepartment of Paediatric Nephrology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Osman KizilkilicDivision of Neuroradiology, Department of Radiology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
,
Ozan OzkayaDepartment of Paediatrics, Okmeydanı Research Hospital, Istanbul, Turkey
&
Ozgur KasapcopurDepartment of Paediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
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Pages 65-68 | Received 17 Nov 2017, Accepted 11 Dec 2018, Published online: 15 Jan 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;370:921–931.
  • Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911–920.
  • Garg N, Kasapcopur O, Foster J, et al. Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr. 2014;173:827–830.
  • Caorsi R, Penco F, Schena F, et al. Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J. 2016;14:51.
  • Nanthapisal S, Murphy C, Omoyinmi E, et al. Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases. Arthritis Rheumatol. 2016;68:2314–2322.
  • Caorsi R, Penco F, Grossi A, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. 2017;76:1648–1656.
  • 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. 2017;38:129–136.
  • Schepp J, Bulashevska A, Mannhardt-Laakmann W, et al. Deficiency of adenosine deaminase 2 causes antibody deficiency. J Clin Immunol. 2016;36:179–186.
  • Van Montfrans JM, Hartman EA, Braun KP, et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford). 2016;55:902–910.
  • Batu ED, Karadag O, Taskiran EZ, et al. A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype-phenotype correlations. J Rheumatol. 2015;42:1532–1534.
  • Uettwiller F, Sarrabay G, Rodero MP, et al. ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. RMD Open. 2016;2:e000236.
  • 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.
  • Hsu AP, West RR, Calvo KR, et al. Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2016;138:628–630 e2.
  • Keer N, Hershfield M, Caskey T, et al. Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2. Rheumatology (Oxford). 2016;55:1145–1147.
  • Van Eyck L Jr, Hershfield MS, Pombal D, et al. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy Clin Immunol. 2015;135:283–287.
  • Westendorp WF, Nederkoorn PJ, Aksentijevich I, et al. Unexplained early-onset lacunar stroke and inflammatory skin lesions: consider ADA2 deficiency. Neurology. 2015;84:2092–2093.
  • Aksu G, Genel F, Koturoglu G, et al. Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr. 2006;48:19–24.

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