engleski

BTK, ELANE and SBDS gene sequencing in Croatian patients with primary immunodeficiencies

Aim: Primary immunodeficiency diseases (PID) are a heterogenic group of rare inherited conditions, which are result of error in development and/or functioning of the immune system. They are caused by hereditary or genetic defects and can affect anyone, regardless of age or gender. The aim was to confirm clinical diagnosis at molecular genetic level in patients with PID and to define carrier status by analyzing DNA samples of patients’ close family members. Methods: 22 samples of genomic DNA were analyzed: 9 samples of patients with suspicion on one of the PID and 13 samples of their close family members. For identification of mutations in the coding region of analyzed genes, the sequencing method on Applied Biosystems 3130xl Genetic analyzer and BigDye® Terminator v3.1 Cycle Sequencing Kit were used. Results: In 2 patients with X- linked agammaglobulinemia, mutations in the BTK gene were found. In the first patient, mutation was inherited from the mother, and in the other, mutation occurred de novo in mother’s egg cells. In 4 patients with suspicion on cyclic or severe congenital neutropenia, 4 mutations occurred de novo in mother’s egg cells were found in ELANE gene. In 3 patients with suspicion on Shwachman-Diamond syndrome mutation in SBDS gene were found. Conclusion: Molecular genetic analysis is the final diagnostic step in confirmation of the PID diagnosis considering the enormous number of mutations in various genes discovered so far that codes proteins responsible for maturation, functionality and regulation of the immune system.

primary immunodeficiency; DNA sequencing; BTK; ELANE; SBDS

nije evidentirano