V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations

Blood

Volumn 97, Issue 1, 2001, Pages 81-88

  Villa, Anna ^a   Sobacchi, Cristina ^b   Notarangelo, Luigi D ^b   Bozzi, Fabio ^b   Abinun, Mario ^b   Abrahamsen, Tore G ^b   Arkwright, Peter D ^b   Baniyash, Michal ^b   Brooks, Edward G ^b   Conley, Mary Ellen ^b   Cortes, Patricia ^b   Duse, Marzia ^b   Fasth, Anders ^b   Filipovich, Alexandra M ^b   Infante, Anthony J ^b   Jones, Alison ^b   Mazzolari, Evelina ^b   Muller, Susanna M ^b   Pasic, Srdjan ^b   Rechavi, Gideon ^b   Sacco, Maria Grazia ^b   Santagata, Sandro ^b   Schroeder, Marlis L ^b   Seger, Reinhard ^b   Strina, Dario ^b   Ugazio, Alberto ^b   Väliaho, Jouni ^b   Vihinen, Mauno ^b   Vogler, Larry B ^b   Ochs, Hans ^b   Vezzoni, Paolo ^b   Friedrich, Wilhelm ^b   Schwarz, Klaus ^b   more..

^a CNR   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RAG1 PROTEIN; RAG2 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; DIAGNOSTIC ACCURACY; GENE MUTATION; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOPHENOTYPING; LYMPHOCYTE; OMENN SYNDROME; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0035161258     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.1.81     Document Type: Article

References (29)

1. The mechanism of V(D)J joining: Lessons from molecular, immunological and comparative analyses
2. Somatic generation of antibody diversity
3. V(D)J recombination: A functional definition of the joining signals
4. Conservation of sequence in recombination signal sequence spacers
5. The V(D)J recombination activating gene RAG-1
6. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination
7. The SCID mouse mutant: Definition, characterization and potential uses
8. Requirement for Ku80 in growth and immunoglobulin V(D)J recombination
9. Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates
10. Growth retardation and leaky SCID phenotype of Ku70-deficient mice
11. V(D)J recombination in Ku86-deficient mice: Distinct effects on coding, signal and hybrid joint formation
12. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
13. Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice
14. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV
15. Rag-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D) rearrangement
16. RAG-1-deficient mice have no mature B and T lymphocytes
17. Rag mutations in human B cell-negative SCID
18. Partial V(D)J recombination activity leads to Omenn syndrome
19. Familial reticuloendotheliosis with eosinophilia
20. Combined immunodeficiency and reticuloendotheliosis with eosinophilia
21. Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)
22. Omenn syndrome: A disorder of Rag1 and Rag2 genes
23. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
24. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome
25. Mutation of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
26. MUTbase program package for maintenance and analysis of mutation databases on World Wide Web
27. Rag mutations in severe combined and Omenn's syndrome
28. Mechanism of V(D)J recombination
29. Roles of the "dispensable" portions of RAG-1 and RAG-2 in V(D)J recombination