Immune system defects in DiGeorge syndrome and association with clinical course

ÖZEN A. O. , KIYKIM A. , ÖZEN A. O. , ÖZEN A. O. , AYDINER E., Ozen A., ...Daha Fazla

SCANDINAVIAN JOURNAL OF IMMUNOLOGY, cilt.90, sa.5, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 90 Konu: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1111/sji.12809


We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4(+)T and CD8(+)T cells were defined as high-risk (HR) patients, whereas patients with normal numbers of naive CD4(+) and CD8(+)T cells were defined as standard risk (SR) patients. Level of serum IgM, CD3(+) T cell counts and percentages of class-switched memory B cells were significantly low in HR group compared to SR ones. Severe infections and persistent hypoparathyroidism were detected significantly higher in HR group. Patients with reduced percentages of class-switched B cells had earlier onset of infection, lower blood IgM, lower CD4(+) and CD8(+)T counts than patients with normal class-switched memory B cells. Decreased levels of IgM were associated with low numbers of naive CD4(+) and recent thymic emigrants T cells. Monitoring the immune changes of patients with DGS would be useful to predict the severe phenotype of disease.