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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Case report of T-B-NK+ SCID<br />
- Girl form consanguineous parents<br />
- In first year of life no problems<br />
- In second year development of infections of respiratory<br />
tracts <strong>and</strong> c<strong>and</strong>idiasis<br />
- Successively, development of chronic diarrhea <strong>and</strong><br />
failure thrive.<br />
- At 18 months suspicion for immunodeficiency due to<br />
hypogammaglobulinemia<br />
- Improvement with immunoglobulin substitution <strong>and</strong><br />
broad-spectrum antibiotics.<br />
- BMT was initiated, but patient died during conditioning<br />
period
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