title: Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.
abstract: Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2. We also review the literature on DADA2. This report will help raise awareness of physicians for this complex disease.
authors.affiliation: *Division of Pediatric Hematology and Oncology and Bone Marrow Transplantation, Ohio State University, Columbus †Division of Pediatric Hematology and Oncology and Bone Marrow Transplantation, Case Western Reserve University, Cleveland, OH.
authors.forename: Hasan
authors.initials: H
authors.lastname: Hashem
authors.forename: Rachel
authors.initials: R
authors.lastname: Egler
authors.forename: Jignesh
authors.initials: J
authors.lastname: Dalal
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D016026:Bone Marrow Transplantation / Q000379:methods; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency*; D008297:Male; D012010:Red-Cell Aplasia, Pure / Q000150:complications / Q000175:diagnosis*; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis*
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase