Article
Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency.
European journal of immunology - 1 Nov 1993
López Rodríguez C, Nueda A, Grospierre B, Sánchez-Madrid F, Fischer A, Springer T A, Corbí A L
Abstract excerpt
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disease caused by heterogeneous mutations within the gene encoding the common beta subunit (CD18) of the three leukocyte integrins LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), and p150,95 (CD11c/CD18). Based on the level of expression of CD...
Topics
- Alleles
- Antigens, CD
- Base Sequence
- CD18 Antigens
- Cell Adhesion
- DNA
- Frameshift Mutation
- Humans
- Immunologic Deficiency Syndromes
- Integrins
- Leukocytes
- Molecular Sequence Data
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- RNA, Messenger
- Sequence Deletion