G2-lymphocyte chromosomal radiosensitivity in patients with LPS responsive beige-like anchor protein (LRBA) deficiency.

Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is an autosomal recessive primary immunodeficiency disease characterized by a CVID-like phenotype, particularly severe autoimmunity and inflammatory bowel disease. This study was undertaken to evaluate radiation sensitivity in 11 LRBA-deficient patients. Therefore, stimulated lymphocytes of the studied subjects were exposed to a low dose γ-radiation (100 cGy) in the G phase of the cell cycle and chromosomal aberrations were scored.

High frequency of microdeletion in gene family in peripheral blood leukocytes of non-obstructive azoospermia patients.

About 10-15% of non-obstructive azoospermia (NOA) patients show microdeletion in their blood leukocytes. However, if genes were involved in impaired spermatogenesis, a higher frequency of chromosomal microdeletions was expected. In this study the frequency of microdeletion was compared with gene family, i.