Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 1, 2015, Pages 140-150.e7

  Felgentreff, Kerstin ^a   Lee, Yu Nee ^a   Frugoni, Francesco ^a   Du, Likun ^a   Van Der Burg, Mirjam ^b   Giliani, Silvia ^c   Tezcan, Ilhan ^d   Reisli, Ismail ^e   Mejstrikova, Ester ^f   De Villartay, Jean Pierre ^g   Sleckman, Barry P ^h   Manis, John ^a   Notarangelo, Luigi D ^a,i  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF BRESCIA   (Italy)

^d HACETTEPE UNIVERSITY   (Turkey)

^e NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^f UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^g IMAGINE INSTITUTE   (France)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ HARVARD STEM CELL INSTITUTE   (United States)

Author keywords

ARTEMIS deficiency; DCLRE1C mutations; DNA repair; nonhomologous end joining; severe combined immunodeficiency; V(D)J recombination

Indexed keywords

ARTEMIS; DCLRE1C PROTEIN; ENDONUCLEASE; HISTONE H2AX; PROTEIN; UNCLASSIFIED DRUG; ABELSON KINASE; DCLRE1C PROTEIN, HUMAN; H2AFX PROTEIN, HUMAN; HISTONE; NUCLEAR PROTEIN;

ADULT; ALTERNATIVE RNA SPLICING; ARTEMIS DEFICIENCY; ARTICLE; CHILD; CLINICAL ARTICLE; DNA END JOINING REPAIR; DNA STRAND BREAKAGE; ENZYME DEFICIENCY; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; IONIZING RADIATION; LYMPHOMA; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; OPPORTUNISTIC INFECTION; PATHOGENICITY; PHENOTYPE; PRE B LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOSENSITIVITY; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; SOUTHERN BLOTTING; SQUAMOUS CELL CARCINOMA; TRANSLATION INITIATION; VDJ RECOMBINATION; ADOLESCENT; ALLELE; B LYMPHOCYTE; DNA REPAIR; GENETICS; HETEROZYGOTE; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; RADIATION DOSE; RADIATION RESPONSE; TRANSFORMED CELL LINE; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; B-LYMPHOCYTES; CELL LINE, TRANSFORMED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA REPAIR; HETEROZYGOTE; HISTONES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; ONCOGENE PROTEINS V-ABL; PHENOTYPE; RADIATION TOLERANCE; RADIATION, IONIZING; SEVERE COMBINED IMMUNODEFICIENCY; V(D)J RECOMBINATION; YOUNG ADULT;

EID: 84949125497     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.03.005     Document Type: Article

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