Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Tal Ben-Ami; Shoshana Revel-Vilk; Rebecca Brooks; Avraham Shaag; Michael S. Hershfield; Susan J. Kelly; Nancy J. Ganson; Shlomit Kfir-Erenfeld; Michael Weintraub; Orly Elpeleg; Yackov Berkun; Polina Stepensky

doi:10.1016/j.jpeds.2016.06.058

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Tal Ben-Ami^*
, Shoshana Revel-Vilk
, Rebecca Brooks
, Avraham Shaag
, Michael S. Hershfield
, Susan J. Kelly
, Nancy J. Ganson
, Shlomit Kfir-Erenfeld
, Michael Weintraub
, Orly Elpeleg
, Yackov Berkun
, Polina Stepensky

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

105 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	316-320
Number of pages	5
Journal	Journal of Pediatrics
Volume	177
DOIs	https://doi.org/10.1016/j.jpeds.2016.06.058
State	Published - 2016
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2016 Elsevier Inc.

Keywords

autoinflammatory diseases
pure red cell aplasia
vasculitis
whole exome sequencing

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10.1016/j.jpeds.2016.06.058

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title = "Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency",

abstract = "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.",

keywords = "autoinflammatory diseases, pure red cell aplasia, vasculitis, whole exome sequencing",

author = "Tal Ben-Ami and Shoshana Revel-Vilk and Rebecca Brooks and Avraham Shaag and Hershfield, \{Michael S.\} and Kelly, \{Susan J.\} and Ganson, \{Nancy J.\} and Shlomit Kfir-Erenfeld and Michael Weintraub and Orly Elpeleg and Yackov Berkun and Polina Stepensky",

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2016",

doi = "10.1016/j.jpeds.2016.06.058",

language = "אנגלית",

volume = "177",

pages = "316--320",

journal = "Journal of Pediatrics",

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AU - Ben-Ami, Tal

AU - Revel-Vilk, Shoshana

AU - Brooks, Rebecca

AU - Shaag, Avraham

AU - Hershfield, Michael S.

AU - Kelly, Susan J.

AU - Ganson, Nancy J.

AU - Kfir-Erenfeld, Shlomit

AU - Weintraub, Michael

AU - Elpeleg, Orly

AU - Berkun, Yackov

AU - Stepensky, Polina

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - autoinflammatory diseases

KW - pure red cell aplasia

KW - vasculitis

KW - whole exome sequencing

UR - https://www.scopus.com/pages/publications/84995663954

U2 - 10.1016/j.jpeds.2016.06.058

DO - 10.1016/j.jpeds.2016.06.058

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AN - SCOPUS:84995663954

SN - 0022-3476

VL - 177

SP - 316

EP - 320

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Abstract

Bibliographical note

Keywords

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