title: Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
abstract: Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1.
  
  
  CONCLUSIONS
  Identification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency.
authors.affiliation: Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA, nishagarg@med.miami.edu.
authors.forename: Nisha
authors.initials: N
authors.lastname: Garg
authors.forename: Ozgur
authors.initials: O
authors.lastname: Kasapcopur
authors.forename: Joseph
authors.initials: J
authors.lastname: Foster
authors.forename: Kenan
authors.initials: K
authors.lastname: Barut
authors.forename: Ayşe
authors.initials: A
authors.lastname: Tekin
authors.forename: Osman
authors.initials: O
authors.lastname: Kızılkılıç
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D010488:Polyarteritis Nodosa / Q000175:diagnosis / Q000235:genetics*
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase
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