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Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Publication ,  Journal Article
Ben-Ami, T; Revel-Vilk, S; Brooks, R; Shaag, A; Hershfield, MS; Kelly, SJ; Ganson, NJ; Kfir-Erenfeld, S; Weintraub, M; Elpeleg, O; Berkun, Y ...
Published in: J Pediatr
October 2016

Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.

Duke Scholars

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

October 2016

Volume

177

Start / End Page

316 / 320

Location

United States

Related Subject Headings

  • Phenotype
  • Pediatrics
  • Metabolism, Inborn Errors
  • Male
  • Intercellular Signaling Peptides and Proteins
  • Infant
  • Humans
  • Female
  • Child, Preschool
  • Child
 

Citation

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MLA
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Ben-Ami, T., Revel-Vilk, S., Brooks, R., Shaag, A., Hershfield, M. S., Kelly, S. J., … Stepensky, P. (2016). Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. J Pediatr, 177, 316–320. https://doi.org/10.1016/j.jpeds.2016.06.058
Ben-Ami, Tal, Shoshana Revel-Vilk, Rebecca Brooks, Avraham Shaag, Michael S. Hershfield, Susan J. Kelly, Nancy J. Ganson, et al. “Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.J Pediatr 177 (October 2016): 316–20. https://doi.org/10.1016/j.jpeds.2016.06.058.
Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, et al. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. J Pediatr. 2016 Oct;177:316–20.
Ben-Ami, Tal, et al. “Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.J Pediatr, vol. 177, Oct. 2016, pp. 316–20. Pubmed, doi:10.1016/j.jpeds.2016.06.058.
Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. J Pediatr. 2016 Oct;177:316–320.
Journal cover image

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

October 2016

Volume

177

Start / End Page

316 / 320

Location

United States

Related Subject Headings

  • Phenotype
  • Pediatrics
  • Metabolism, Inborn Errors
  • Male
  • Intercellular Signaling Peptides and Proteins
  • Infant
  • Humans
  • Female
  • Child, Preschool
  • Child