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SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda

✍ Scribed by J-W. Tjiu; P-J. Lin; W-H. Wu; Y-P. Cheng; H-C. Chiu; H-Y. Thong; B-L. Chiang; W-S. Yang; S-H. Jee

Book ID
108671470
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
412 KB
Volume
164
Category
Article
ISSN
0007-0963

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✍ Esther van de Vosse; Els M. Verhard; Anton J. T. Tool; AdriΓ«tte W. de Visser; Ta πŸ“‚ Article πŸ“… 2010 πŸ› Springer 🌐 English βš– 218 KB

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25Β years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes __ELANE__