Article
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.
The Journal of clinical investigation - 1 Mar 1995
Schmalstieg F C, Leonard W J, Noguchi M, Berg M, Rudloff H E, Denney R M, Dave S K, Brooks E G, Goldman A S
Abstract excerpt
Clinical and immunologic features of a recently recognized X-linked combined immunodeficiency disease (XCID) suggested that XCID and X-linked severe combined immunodeficiency (XSCID) might arise from different genetic defects. The recent discovery of mutations in the common gamma chain (gamma c)...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human
- Dosage Compensation, Genetic
- Exons
- Female
- Genetic Linkage
- Heterozygote
- Humans
- Immunologic Deficiency Syndromes
- Lymphocytes
- Male
- Molecular Sequence Data
- Mutation
- Pedigree