Early identification of genetic defects for the primary immunodeficiency(PID) patients is very important follow up and treatment modalities. In order to determine the genetic defects of the patients, a next generation sequencing gene analysis was performed by using the primary immunodeficiency panel containing 266 genes in the immunology laboratory of the Pediatric Hospital of Hacettepe University in 180 patients with PID.
We have found responsible the manifestation of genes for the PID disorders in the 100 patients primary immunodeficiency according to clinical and laboratory criteria were evaluated by targeted NGS PIDv1 panel, Ion torrent platform Ion PGM and software was Ion reporter 5.10.
We detected responsible mutations in 100 out of 180 patients with patients with immunodeficiencies were evaluated and results were obtained by performing NGS analysis. 4 patients had PIK3CD, 3 patients had TNSF12-TNSF13, NFKB2, 2 patients had TNFRSF13B, GATA2, 1 patient had CYBA and TNFRSF13B, 1 patient had PRKDC and MCM4, 1 patient had PSTPIP1 and STIM1, 1 patient had PSTPIP1 and TCF3, 1 patient had STIM1 and CARD11, mutation in STIM1 and CD19 genes in 1 patient, mutation in 1 patient CD27, CTPS1, DCLRE1C, IL17F, IL1RN, IL2RG, INO80, MCM4, MKL1, NCF1, NOD2, PIK3R1, POLE, RLTPR, STAT1, STAT3 GOF , STK4, TBX1, TCF3, TERT and UNC13D genes have been identified.Early diagnosis and effective treatment is provided by the next generation sequencing method in most patients with PID.
Genetic defects determined by these analyzes show that rare diseases are not rare for the same family.