Article
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.
Blood cells, molecules & diseases - 1 Mar 2015
Madkaikar Manisha, Italia Khushnooma, Gupta Maya, Chavan Sushant, Mishra Anju, Rao Meghna, Mhatre Snehal, Desai Mukesh, Manglani Mamta, Singh Surjit, Suri Deepti, Agrawal Amita, Ghosh Kanjaksha
Abstract excerpt
PURPOSE: Leukocyte adhesion deficiency type-I (LAD-I) is caused by mutations in the ITGB2 gene, encoding the β2-subunit of β2-integrin (CD18) which leads to markedly reduced expression of CD18 on leukocytes resulting into recurrent life threatening infections. Here we aim to identify the molecular defects underlying LAD-I in Indian patients and correlate with the clinical presentation. METHODS: Blood was...
Topics
- CD18 Antigens
- DNA Mutational Analysis
- Female
- Humans
- India
- Infant
- Infant, Newborn
- Leukocyte-Adhesion Deficiency Syndrome
- Leukocytes
- Male
- Mutation
- Prenatal Diagnosis
- White People