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Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

✍ Scribed by James W. Verbsky; Mei W. Baker; William J. Grossman; Mary Hintermeyer; Trivikram Dasu; Benedetta Bonacci; Sreelatha Reddy; David Margolis; James Casper; Miranda Gries; Ken DeSantes; Gary L. Hoffman; Charles D. Brokopp; Christine M. Seroogy; John M. Routes


Publisher
Springer
Year
2011
Tongue
English
Weight
209 KB
Volume
32
Category
Article
ISSN
0271-9142

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Screening for mutations causing X-linked
✍ Paula A. Clark; Tracy Lester; Sally Genet; Alison M. Jones; Rudi Hendriks; Rolan 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 894 KB

Mutations in the common gamma chain (y~ or IL2RG) of the interleukin-2, -4, -7, -9 and -15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1). We report here on the mutations identified in a further ten families. Two of the mutations identified have occurred twice