title: Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.
authors.affiliation: Department of Medicine, Saint Vincent Hospital, Worcester, MA nikkyke@pcom.edu.
authors.forename: Nikky
authors.initials: N
authors.lastname: Keer
authors.affiliation: Department of Medicine Department of Biochemistry, Duke University School of Medicine, Durham, NC.
authors.forename: Michael
authors.initials: M
authors.lastname: Hershfield
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Thomas
authors.initials: T
authors.lastname: Caskey
authors.affiliation: Division of Rheumatology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Unizony
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency*; D000243:Adenosine Deaminase / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D010488:Polyarteritis Nodosa / Q000235:genetics*; D014157:Transcription Factors / Q000172:deficiency*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C097695:TADA2A protein, human; D014157:Transcription Factors; C408373:ADA2 protein, human; D000243:Adenosine Deaminase