Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.
In this study, we describe the biological immune profiles and clinical dysimmune manifestations (infections, autoimmune diseases, and allergies) of patients with 22q11.2 deletion syndrome with the aim of determining risk factors for clinical events. This retrospective study concerned all the patients with 22q11 deletion syndrome attending the Montpellier University Hospital from January 1, 1992, to December 31, 2014 who had at least one immune investigation before the age of 18. We analyzed the clinical features, biological tests and the course of infections, autoimmunity, and allergy of 86 children. Among these 86 children, 48 (59%) had a low T lymphocyte level. Twenty-nine patients (34%) had a severe infection. The only risk factor for severe infection was the low level of CD4+ T-cells (OR: 3.3; 95% confidence interval (CI) [1.020-11.108]). Eleven patients (13%) developed an autoimmune disease; the only risk factor was an antecedent of severe infection (OR: 4.1; 95% CI [1.099-15.573]). Twenty-three patients (27%) had allergic episodes. A low level of CD8+ T-cells (OR: 3.2; 95% CI [1.07-9.409]) was significantly associated with allergy manifestations. Patients with 22q11 deletion syndrome have a high rate of dysimmune manifestations. We found statistic correlations among CD4+ T-cell count, infectious manifestations, and autoimmunity.
['Mahé|Perrine|P|0000-0001-8487-1628', 'Nagot|Nicolas|N|', 'Portales|Pierre|P|', 'Lozano|Claire|C|', 'Vincent|Thierry|T|', 'Sarda|Pierre|P|', 'Perez|Marie-Jose|MJ|', 'Amedro|Pascal|P|', 'Marin|Gregory|G|', 'Jeziorski|Eric|E|']
D001327:Autoimmune Diseases D015551:Autoimmunity D002648:Child D002675:Child, Preschool D004062:DiGeorge Syndrome D004198:Disease Susceptibility D005260:Female D005602:France D006801:Humans D006967:Hypersensitivity D007132:Immunoglobulin Isotypes D007223:Infant D007239:Infections D008297:Male D010641:Phenotype D015995:Prevalence D012720:Severity of Illness Index D016176:T-Lymphocyte Subsets
dysimmunity infections autoimmunity 22q11 deletion syndrome lymphocytes