Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Rheumatology (United Kingdom)

Volumn 55, Issue 5, 2016, Pages 902-910

  Van Montfrans, Joris M ^a   Hartman, Esther A R ^a   Braun, Kees P J ^b   Hennekam, Eric A M ^b   Hak, Elisabeth A ^c   Nederkoorn, Paul J ^c   Westendorp, Willeke F ^c   Bredius, Robbert G M ^d   Kollen, Wouter J W ^d   Schölvinck, Elisabeth H ^e   Elizabeth Legger, G ^e   Meyts, Isabelle ^a,f   Liston, Adrian ^g   Lichtenbelt, Klaske D ^b   Giltay, Jacques C ^b   Van Haaften, Gijs ^b   De Vries Simons, Gaby M ^b   Leavis, Helen ^a   Sanders, Cornelis J G ^h   Bierings, Marc B ^a   Nierkens, Stefan ^b   Van Gijn, Marielle E ^b   more..

^a Department of Pediatric Immunology and Infectious Diseases ^*  (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g UNIVERSITY OF LEUVEN   (Belgium)

^h Division of Internal Medicine and Dermatology   (Netherlands)

Author keywords

ADA2; Auto inflammatory disease; CECR1; Early onset stroke; Genotype; Livedo reticularis; Phenotype; Vasculitis

Indexed keywords

ACETYLSALICYLIC ACID; ADALIMUMAB; ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; UNCLASSIFIED DRUG;

ACUTE MYELOBLASTIC LEUKEMIA; ADENOSINE DEAMINASE 2 DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ADOLESCENT; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; APLASTIC ANEMIA; ARTICLE; CEREBROVASCULAR ACCIDENT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATIONAL STUDY; CYTOPENIA; ENZYME ACTIVITY; FOLLOW UP; FOUNDER EFFECT; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEPATOSPLENOMEGALY; HUMAN; IMMUNOGLOBULIN DEFICIENCY; LOW DRUG DOSE; MUTATOR GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; R169Q GENE; SCHOOL CHILD; SKIN ULCER; YOUNG ADULT;

EID: 84965060479     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kev439     Document Type: Article

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