Abstracts tagged "genetic disorders and pediatrics"

Abstract Number: 3092 • 2015 ACR/ARHP Annual Meeting
Deficiency of Adenosine Deaminase Type II – Expanding the Clinical Spectrum
Karyl Barron¹, Amanda Ombrello², Deborah Stone², Patrycja Hoffmann², Ivona Aksentijevich^2,3, Qing Zhou², Anne Jones² and Daniel L. Kastner⁴, ¹NIAID/NIH, Bethesda, MD, ²NHGRI/NIH, Bethesda, MD, ³Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁴Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: The deficiency of adenosine deaminase II (DADA2), first described in 2014, is an autosomal recessive disease caused by mutations in CECR1and is characterized by…

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Abstracts tagged "genetic disorders and pediatrics"

Deficiency of Adenosine Deaminase Type II – Expanding the Clinical Spectrum