Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies
In this report, we described an infant with both partial biotinidase and IL-12Rβ1 deficiencies as these two entities are rare and unrelated inherited disorders. One-month-old girl was diagnosed as partial biotinidase deficiency with newborn screening programme. Mutation analysis revealed a compound...
| Main Authors: | , , , , |
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| 格式: | Article |
| 語言: | English |
| 出版: |
Hacettepe University Institute of Child Health
2018-10-01
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| 叢編: | The Turkish Journal of Pediatrics |
| 主題: | |
| 在線閱讀: | https://turkjpediatr.org/article/view/908 |