Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

European Journal of Immunology

Volumn 36, Issue 1, 2006, Pages 224-235

  Buck, Dietke ^a,c   Moshous, Despina ^a,c   de Chasseval, Régina ^a,c   Ma, Yunmei ^b   le Deist, Françoise ^a,c   Cavazzana Calvo, Marina ^a,c   Fischer, Alain ^a,c   Casanova, Jean Laurent ^a,c   Lieber, Michael R ^b   de Villartay, Jean Pierre ^a,c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

DNA ligaseIV; DNA repair; Immune development; Immunodeficiency; V(D)J recombination

Indexed keywords

DNA LIGASE IV; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CELL SURVIVAL; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; EX VIVO STUDY; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC RECOMBINATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; MICROCEPHALY; MUTAGENESIS; PRIORITY JOURNAL; SIBLING; T LYMPHOCYTE; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, WESTERN; DNA LIGASES; FEMALE; GENE REARRANGEMENT, B-LYMPHOCYTE; GENE REARRANGEMENT, T-LYMPHOCYTE; HUMANS; IMMUNOGLOBULIN VARIABLE REGION; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RADIATION TOLERANCE; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 30944455282     PISSN: 00142980     EISSN: None     Source Type: Journal    
DOI: 10.1002/eji.200535401     Document Type: Article

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