title: Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.affiliation: Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md.
authors.forename: Robert R
authors.initials: RR
authors.lastname: West
authors.affiliation: Hematology Section, Department of Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
authors.forename: Katherine R
authors.initials: KR
authors.lastname: Calvo
authors.affiliation: Department of Infectious Diseases, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Cuellar-Rodriguez
authors.affiliation: Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, Md.
authors.forename: Mark
authors.initials: M
authors.lastname: Parta
authors.affiliation: Department of Medicine, Duke University School of Medicine, Durham, NC.
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Kelly
authors.affiliation: Department of Medicine, Duke University School of Medicine, Durham, NC.
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Ganson
authors.affiliation: Department of Medicine, Duke University School of Medicine, Durham, NC; Department of Biochemistry, Duke University School of Medicine, Durham, NC.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hershfield
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. Electronic address: hicksted@mail.nih.gov.
authors.forename: Dennis D
authors.initials: DD
authors.lastname: Hickstein
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D003951:Diagnostic Errors; D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D000075442:Transplantation, Haploidentical; D000073359:Exome Sequencing; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase