Article
B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.
Human genetics - 1 May 1997
Jones A M, Clark P A, Katz F, Genet S, McMahon C, Alterman L, Cant A, Kinnon C
Abstract excerpt
Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene...
Topics
- Antigens, CD
- B-Lymphocytes
- DNA
- Exons
- Humans
- Infant
- Male
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Receptors, Cytokine
- Receptors, Interleukin-2
- Severe Combined Immunodeficiency
- T-Lymphocytes
- X Chromosome