V(D)J recombination and its defects

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Severe combined immunodeficiency (SCID) - Clinical symptoms: opportunistic infections, protracted diarrhea, failure to thrive, presenting in the first months of life - Many causative genetic <strong>defects</strong> have been described - Immunological classification helpful to search for genetic defect
T-B-NK+ SCID is caused by defect in V(D)J <strong>recombination</strong> T-B-NK+ T-B-NK+ T-B+NK- T-B-NK- T-B+NK+
Page 1 and 2: ESID Prague meeting, 14-15 May 2007
Page 3 and 4: V(D)J recombination of the IGH gene
Page 5 and 6: V D IgH IgH V D J J V C C V J J IgL
Page 7 and 8: IGH gene rearrangements quantified
Page 9 and 10: Gene expression profiling of human
Page 11 and 12: EBF, LIG4 and RAG1 gene expression
Page 13 and 14: Cell 2006;124:260-262.
Page 15: Outline - V(D)J recombination and i
Page 19 and 20: Flowcytometric analysis of precurso
Page 21 and 22: CyIgµ/SmIgM/CD19 on bone marrow of
Page 23 and 24: T - B - NK + SCID patients without
Page 25 and 26: Clonogenic survival assay of fibrob
Page 27 and 28: Signal and coding joint formation i
Page 29 and 30: Composition of the precursor B-cell
Page 31: Composition of junction regions DH
Page 34 and 35: Case report of T-B-NK+ SCID - Girl
Page 36 and 37: Clonogenic survival assay of fibrob
Page 38 and 39: Composition of coding joints of pat
Page 40 and 41: RS-SCID caused by a deletion of thr
Page 42 and 43: Conclusions - V(D)J recombination d
Page 44 and 45: Acknowlegdements Dept. of Cell biol
Page 46 and 47: Differences in outcome of SCT of B-
Page 48 and 49: “Lack of Space hypothesis” No B
Page 50 and 51: Short tandem repeat (STR) analysis
Page 52 and 53: Second SCT - Artemis-deficient SCID
Page 54 and 55: Post-SCT2 precursor B-cells of dono
Page 56: Acknowlegdements Dept. of Immunolog

V(D)J recombination and its defects

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