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Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center

Blood Apr 30, 2019

Giardino G, et al. - To evaluate the influence of distinct factors in the development of infections, autoimmunity and/or allergy in outpatients with partial DiGeorge syndrome (DGS) (pDGS), investigators studied 467 pDGS patients in follow-up at Great Ormond Street Hospital. Representation of a risk factor for the development of recurrent otitis media with effusion was reported in palatal anomalies using a multivariate approach. A risk factor for recurrent upper respiratory tract infections development was noticed with gastroesophageal reflux/dysphagia and asthma/rhinitis. A correlation of allergy and autoimmunity with persistently low IgM levels and lymphopenia respectively was also recorded. Compared with age-matched controls, the physiological age-related deterioration of the T-cell number was slower in pDGS patients. Contribution of premature CD4+ T-cell aging and lymphopenia-induced spontaneous peripheral T-cell proliferation was suggested in the pathogenesis of autoimmunity in pDGS cases.
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