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Immune system defects in DiGeorge syndrome and association with clinical course
Author(s) -
Nain Ercan,
Kiykim Ayca,
Ogulur Ismail,
Kasap Nurhan,
KarakocAydiner Elif,
Ozen Ahmet,
Baris Safa
Publication year - 2019
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1111/sji.12809
Subject(s) - digeorge syndrome , cd8 , immunology , immune system , population , biology , medicine , genetics , environmental health
Abstract 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.

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