Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

Blood

Volumn 97, Issue 9, 2001, Pages 2772-2776

  Corneo, Barbara ^a,b,c,d   Moshous, Despina ^a,b,c,d   Güngör, Tayfun ^a,b,c,d   Wulffraat, Nicolas ^a,b,c,d   Philippet, Pierre ^a,b,c,d   Le Deist, Françoise ^a,b,c,d   Fischer, Alain ^a,b,c,d   De Villartay, Jean Pierre ^a,b,c,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Department Infectious Diseases and Immunology KE41331 Wilhelmina's Childrens Hospital   (Netherlands)

^d Clinique Saint Joseph   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

RAG1 PROTEIN; RAG2 PROTEIN; RECOMBINASE;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MALE; OMENN SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035353213     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.9.2772     Document Type: Article

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