Deficiency of adenosine deaminase 2: Is it an elephant after all?

Oskar Schnappauf; Amanda K Ombrello; Daniel L Kastner

doi:10.1016/j.jaci.2020.04.023

Deficiency of adenosine deaminase 2: Is it an elephant after all?

J Allergy Clin Immunol. 2020 Jun;145(6):1560-1561. doi: 10.1016/j.jaci.2020.04.023. Epub 2020 Apr 27.

Authors

Oskar Schnappauf¹, Amanda K Ombrello², Daniel L Kastner²

Affiliations

¹ National Human Genome Research Institute, National Institutes of Health, Bethesda, Md. Electronic address: oskar.schnappauf@nih.gov.
² National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.

PMID: 32353490
DOI: 10.1016/j.jaci.2020.04.023

No abstract available

Keywords: Deficiency of ADA2; TNF inhibitors; bone marrow failure; genotype-phenotype correlations; hematopoietic stem cell transplantation; pure red cell aplasia; vasculitis.

Publication types

Editorial
Comment

MeSH terms

Adenosine Deaminase* / deficiency
Adenosine Deaminase* / genetics
Genotype
Humans
Intercellular Signaling Peptides and Proteins
Metabolism, Inborn Errors*
Phenotype

Substances

Intercellular Signaling Peptides and Proteins
Adenosine Deaminase