Ağır Kombine İmmün Yetmezlikli Hastalarda, Hastalığa Neden Olan Genetik Defektlerin Yeni Nesil Dizileme Yöntemiyle Araştırılması

Abstract

Severe combined immunodeficiency is the most severe form of primary immunodeficiencies. Patients with SCID present with high susceptibility to fatal bacterial, viral and fungal infections in their first year of life. Early diagnosis can be life-saving for the patients. The only curative therapy is hematopoietic stem cell transplantation and determination of the underlying genetic defect is crucial for conditioning regimens for HSCT. We aim to determine the causitive gen defects in 22 patients with SCID and 5 patients with CID by a new next generation sequencing based technology, HaloPlex. The HaloPLex panel includes primers for 356 genes associated with primary immunodeficiencies. Illumina HiSeq 2000 system was used for sequencing. Genomic DNA enrichment and sequencing were accomplished in 24 patients out of 27 and 8 causitive genetic defects were detected. All mutations were in known PID-related genes but 5 of them are novel mutations. The other patients should be investigated by whole genom or exom sequencing. The HaloPLex panel was thought to be fast and reliable method to determine the underlying genetic defects for PIDs.