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
Mutations in the gene for the common gamma chain (γc) in X-linked severe combined immunodeficiency
✍ Scribed by Sebastian D. Fugmann; Susanna Müller; Wilhelm Friedrich; Claus R. Bartram; K. Schwarz
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 23 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
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