Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation Amy P. Hsu, BA, Robert R.

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Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation Amy P. Hsu, BA, Robert R. West, PhD, Katherine R. Calvo, MD, PhD, Jennifer Cuellar-Rodriguez, MD, Mark Parta, MD, Susan J. Kelly, PhD, Nancy J. Ganson, PhD, Michael S. Hershfield, MD, Steven M. Holland, MD, Dennis D. Hickstein, MD Journal of Allergy and Clinical Immunology Volume 138, Issue 2, Pages 628-630.e2 (August 2016) DOI: 10.1016/j.jaci.2016.03.016 Copyright © 2016 Terms and Conditions

Fig 1 Bone marrow findings and ADA2 enzyme activity. A, Left: Bone marrow aspirate. Right: Bone marrow core biopsy. B, Immunohistochemistry: Myeloperoxidase (MPO); Erythroid (CD71); B cells (CD20), T cells (CD3). C, ADA2 plasma enzyme activity levels from the patient, pretransplant and posttransplant, her first-degree carrier relatives, and 10 healthy, nonrelated controls. Tx, Transplant. Journal of Allergy and Clinical Immunology 2016 138, 628-630.e2DOI: (10.1016/j.jaci.2016.03.016) Copyright © 2016 Terms and Conditions

Fig E1 Familial inheritance of CECR1 mutation. A, Pedigree with carriers designated by half-filled boxes and solid circle for the homozygous proband (arrow). Ages at the time of transplant are shown; lowercase letters correspond to Table I designations. B, Diagram of the CECR1 gene (NG_033943.1) isoform a (NM_001282225). The arrow indicates the location of the C>G mutation in exon 5 of the CECR1 gene causing the substitution of a stop codon (X) for serine (S). Wide bars indicate coding sequence, narrow bars indicate untranslated cDNA, and thin line indicates intron. Journal of Allergy and Clinical Immunology 2016 138, 628-630.e2DOI: (10.1016/j.jaci.2016.03.016) Copyright © 2016 Terms and Conditions