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

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Presentation on theme: "Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation  Amy P. Hsu, BA, Robert R."— Presentation transcript:

1 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 e2 (August 2016) DOI: /j.jaci Copyright © Terms and Conditions

2 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  , e2DOI: ( /j.jaci ) Copyright © Terms and Conditions

3 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_ ) isoform a (NM_ ). 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  , e2DOI: ( /j.jaci ) Copyright © Terms and Conditions

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