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V(D)J recombination and its defects

V(D)J recombination and its defects

V(D)J recombination and its defects

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T – B – NK + SCID<br />

- Approximately 20% to 30% of all SCID patients<br />

- One third of these patients have mutations in the<br />

<strong>recombination</strong> activating genes (RAG1 or RAG2)<br />

- RAG proteins are essential for induction of V(D)J<br />

<strong>recombination</strong> of Ig <strong>and</strong> TCR genes

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