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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- A Ligase IV mutation can give rise to RS-SCID<br />
- Clinical spectrum of Ligase IV mutations is broadened<br />
- Can other NHEJ <strong>defects</strong> be expected?<br />
Yes → Cernunnos<br />
Immunodeficiency Microcephaly <strong>and</strong><br />
growth delay<br />
RS-SCID ++ -<br />
Radiosensitivity<br />
LIG4 syndrome + ++<br />
+<br />
Leukemia - -<br />
+<br />
+