title: Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
abstract: Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
authors: Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel. Electronic address: tal.ben.ami11@gmail.com.
authors: Tal
authors: T
authors: Ben-Ami
authors: Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors: Shoshana
authors: S
authors: Revel-Vilk
authors: Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
authors: Rebecca
authors: R
authors: Brooks
authors: Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors: Avraham
authors: A
authors: Shaag
authors: Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC.
authors: Michael S
authors: MS
authors: Hershfield
authors: Department of Medicine, Duke University School of Medicine, Durham, NC.
authors: Susan J
authors: SJ
authors: Kelly
authors: Department of Medicine, Duke University School of Medicine, Durham, NC.
authors: Nancy J
authors: NJ
authors: Ganson
authors: The Lautenberg Center for Immunology and Cancer Research, IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors: Shlomit
authors: S
authors: Kfir-Erenfeld
authors: Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors: Michael
authors: M
authors: Weintraub
authors: Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors: Orly
authors: O
authors: Elpeleg
authors: Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
authors: Yackov
authors: Y
authors: Berkun
authors: Department of Pediatric Hematology Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors: Polina
authors: P
authors: Stepensky
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase
keywords: autoinflammatory diseases; pure red cell aplasia; vasculitis; whole exome sequencing