engleski

Genetic basis of primary immunodeficiencies in Croatian patients

Introduction: Primary immunodeficiency diseases (PID) are a heterogenic group of rare inherited conditions that occur in individuals born with malfunctioned immune system. Objective: The objective was to confirm clinical diagnosis at molecular genetic level in patients with PID and to define carrier status by analyzing DNA samples of individuals with PID in family history. Methods: We analyzed 24 samples of genomic DNA: 11 samples of patients with suspicion on one of the PID and 13 samples of their family members. For identification of mutations in the coding region of analyzed genes, we used the sequencing method on Applied Biosystems 3130xl Genetic analyzer and BigDye® Terminator v3.1 Cycle Sequencing Kit. Results: In 2 patients with X-linked agammaglobulinemia, mutations in the BTK gene were found. In the first patient, mutation occurred de novo in mother‘s egg cells and, in the other, mutation was inherited from the mother. 3 patients with XLA suspicion didn‘t have mutation in the BTK gene. In 4 patients with cyclic and severe congenital neutropenia, 4 mutations occurred de novo in mother‘s egg cells were found. In 2 patients with suspicion on Shwachmann-Diamond syndrome mutation in SBDS gene inherited from the parents were found. Conclusions: Understanding the genetic basis of PID is the final step in confirmation of the PID diagnosis as it provides comprehension of disease mechanisms at the molecular level and correlation between genotype and phenotype of PID.

primary immunodeficiencies; BTK gene; SBDS gene; DNA sequencing

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