Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.

@article{Tamura2015NovelCH,
  title={Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.},
  author={Shinobu Tamura and Kohei Higuchi and Masaharu Tamaki and Chizuko Inoue and Ryoko Awazawa and Noriko Mitsuki and Yuka Nakazawa and Hiroyuki Mishima and Kenzo Takahashi and Osamu Kondo and Kohsuke Imai and Tomohiro Morio and Osamu Ohara and Tomoo Ogi and Fukumi Furukawa and Masami Inoue and Koh-ichiro Yoshiura and Nobuo Kanazawa},
  journal={Clinical immunology},
  year={2015},
  volume={160 2},
  pages={255-60}
}
We herein describe a case of a 17-year-old boy with intractable common warts, short stature, microcephaly and slowly-progressing pancytopenia. Simultaneous quantification of T-cell receptor recombination excision circles (TREC) and immunoglobulin κ-deleting recombination excision circles (KREC) suggested very poor generation of both T-cells and B-cells. By whole exome sequencing, novel compound heterozygous mutations were identified in the patient's DNA ligase IV (LIG4) gene. The diagnosis of… CONTINUE READING
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