Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. We report a patient carrying a SH2D1A mutation that, after treatment for lymphoma developed fatal central nervous system vasculitis. He lacked signs of ongoing Epstein-Barr virus infection. We propose that impaired T cell homeostasis caused by SAP deficiency facilitates aberrant CD8 T cell activati...
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading...
Labor is thought to positively influence immune system development in the offspring, but studies investigating the impact of different modes of delivery on maternal immune system cells are scarce. Therefore, the aim of this study was to investigate the effect of labor on maternal peripheral blood T-cell subsets and on the recently described regulatory T and B cells. METHODS: Cross-sectional study comparing the ...