Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Journal of Pediatrics

Volumn 177, Issue , 2016, Pages 316-320

  Ben Ami, Tal ^a   Revel Vilk, Shoshana ^a   Brooks, Rebecca ^a   Shaag, Avraham ^a   Hershfield, Michael S ^b   Kelly, Susan J ^b   Ganson, Nancy J ^b   Kfir Erenfeld, Shlomit ^c   Weintraub, Michael ^a   Elpeleg, Orly ^a   Berkun, Yackov ^a   Stepensky, Polina ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

autoinflammatory diseases; pure red cell aplasia; vasculitis; whole exome sequencing

Indexed keywords

ADENOSINE DEAMINASE; RITUXIMAB; CECR1 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADENOSINE DEAMINASE 2 DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; AUTOINFLAMMATORY DISEASE; BLACKFAN DIAMOND ANEMIA; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CORTICOSTEROID THERAPY; DISEASE SEVERITY; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENERALIZED LYMPHADENOPATHY; HEPATOSPLENOMEGALY; HUMAN; INFANT; INNATE IMMUNITY; LIVEDO RETICULARIS; PANCYTOPENIA; PATIENT REFERRAL; PHENOTYPE; POLYARTERITIS NODOSA; PRIORITY JOURNAL; PURE RED CELL ANEMIA; TREATMENT RESPONSE; CASE REPORT; DEFICIENCY; FEMALE; GENETICS; MALE; METABOLISM, INBORN ERRORS; PRESCHOOL CHILD;

ADENOSINE DEAMINASE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; METABOLISM, INBORN ERRORS; PHENOTYPE;

EID: 84995663954     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.06.058     Document Type: Article

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