Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

European Journal of Pediatrics

Volumn 173, Issue 6, 2014, Pages 827-830

  Garg, Nisha ^a   Kasapcopur, Ozgur ^b   Foster II, Joseph ^a   Barut, Kenan ^b   Tekin, Ayşe ^b   Kızılkılıç, Osman ^b   Tekin, Mustafa ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Adenosine deaminase 2; CECR1 gene; Polyarteritis nodosa; Vasculitis

Indexed keywords

ACETYLSALICYLIC ACID; ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; CANAKINUMAB; CYCLOPHOSPHAMIDE; PREDNISOLONE; UNCLASSIFIED DRUG; CECR1 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADENOSINE DEAMINASE 2 DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ADULT RESPIRATORY DISTRESS SYNDROME; ANTICOAGULANT THERAPY; ARTICLE; BALANCE DISORDER; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BRAIN HEMORRHAGE; BRAIN INFARCTION; BRAIN VASCULITIS; BRAIN VASOSPASM; CASE REPORT; CAT EYE SYNDROME CHROMOSOME REGION CANDIDATE 1 GENE; CAUSE OF DEATH; CEREBROVASCULAR DISEASE; CHILD; CINCA SYNDROME; CONFUSION; CONVENTIONAL ANGIOGRAPHY; DIFFUSION WEIGHTED IMAGING; DISEASE SEVERITY; DRUG MEGADOSE; FEMALE; FEVER; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HEAD CIRCUMFERENCE; HEADACHE; HETEROZYGOTE; HUMAN; INTRAPARENCHYMAL HEMORRHAGE; MEDULLA OBLONGATA; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RASH; RECURRENT FEVER; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT DURATION; TREATMENT RESPONSE; DEFICIENCY; DIFFERENTIAL DIAGNOSIS; GENETICS; MUTATION; POLYARTERITIS NODOSA;

ADENOSINE DEAMINASE; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; POLYARTERITIS NODOSA;

EID: 84903821687     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2320-8     Document Type: Article

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