Mutations in the gene encoding the common gamma chain (γc) of interleukin receptors 2, 4, 7, 9, 15 and 21 result in X-linked severe combined immunodeficiency (SCID-X1). Classically, this disease is characterised by an absence of T and NK cells, and near normal numbers of functionally deficient B cel
✦ LIBER ✦
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
✍ Scribed by Karen Helene Ørstavik; Marianne Kristiansen; Gun Peggy Knudsen; Kari Storhaug; Åshild Vege; Kristin Eiklid; Tore G Abrahamsen; Asma Smahi; Jon Steen-Johnsen
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 348 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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