A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients
We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash. The infant was screened for TRECs (T-cell receptor excision circles)...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2018-08-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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