Primary immunodeficiency diseases: Natural mutant models for the study of the immune system

Scandinavian Journal of Immunology

Volumn 55, Issue 3, 2002, Pages 238-241

  Fischer, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; DOUBLE STRANDED DNA; INTERLEUKIN 15 RECEPTOR; INTERLEUKIN 21 RECEPTOR; INTERLEUKIN 3; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN 7 RECEPTOR; INTERLEUKIN 9 RECEPTOR; INTERLEUKIN RECEPTOR; MEGAKARYOCYTE GROWTH AND DEVELOPMENT FACTOR; RAG1 PROTEIN; RAG2 PROTEIN; RETROVIRUS VECTOR; STEM CELL FACTOR; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ANTIGEN RECOGNITION; CELL LINEAGE; CELL MATURATION; COMBINED IMMUNODEFICIENCY; DNA REPAIR; DNA STRAND BREAKAGE; GENE THERAPY; HUMAN; HYPERIMMUNOGLOBULINEMIA M; IMMUNE SYSTEM; LYMPHOCYTE COUNT; LYMPHOCYTE DIFFERENTIATION; MONOGENIC DISORDER; NATURAL KILLER CELL; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROLYMPHOCYTE; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERTANT; REVIEW; STEM CELL TRANSPLANTATION;

ANIMALS; GENE REARRANGEMENT, B-LYMPHOCYTE; GENE REARRANGEMENT, T-LYMPHOCYTE; GENE THERAPY; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICE; MODELS, IMMUNOLOGICAL; MUTATION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0036223655     PISSN: 03009475     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-3083.2002.01056.x     Document Type: Review

References (16)

1. Primary immunodeficiency diseases
2. How to make ends meet in V(D)J recombination
3. Linling Class-Switch recombination with somatic hypermutation
4. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
5. Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse
6. X-linked immunodeficiency with hyper-IgM (XHIM)
7. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme
8. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of Hyper-IgM syndrome (HIGM2)
9. Primary immunodeficiency diseases: An experimental model for molecular medicine
10. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
11. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
12. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
13. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
14. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor
15. Gene therapy of severe combined immunodeficiencies
16. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease