Adenosine deaminase type 2 deficiency (ADA2) masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation

Publication date: Available online 6 April 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Amy P. Hsu, Robert R. West, Katherine R. Calvo, Jennifer Cuellar-Rodriguez, Mark Parta, Susan J. Kelly, Nancy J. Ganson, Michael S. Hershfield, Steven M. Holland, Dennis D. Hickstein

Teaser

Whole exome sequencing of a 20 yo woman with apparent GATA2 deficiency identified homozygous CECR1 null alleles encoding adenosine deaminase 2 (ADA2); ADA2 deficiency can mimic GATA2 deficiency; haploidentical transplantation is curative in both conditions.


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