Antiadenohypophysis autoantibodies in patients with nongluten-related gastroenteropathies.

Aim: To investigate the presence of antipituitary antibodies (APA) in the serum of patients undergoing gastroenteropathies (GEP) other than celiac disease (CD).

Methods: APA were analyzed in GEP patients (n = 103), CD patients (n = 94), idiopathic growth hormone (GH) deficiency patients (n = 21), and 98 age- and sex-matched controls. Indirect immunofluorescence was performed in cryostat sections of baboon pituitary gland.

IL-17 producing T cells in celiac disease: angels or devils?

Celiac disease (CD) is a very common chronic condition in human beings, affecting approximately one in 100 individuals. It is an autoimmune disease with a defined environmental trigger, the gluten contained in dietary cereals, occurring in genetically susceptible individuals. The disease has a very strong HLA association.

Interleukin-21 overexpression dominates T cell response to Epstein-Barr virus in a fatal case of X-linked lymphoproliferative syndrome type 1.

Interleukin-21 (IL-21) is a cytokine whose actions are closely related to B cell differentiation into plasma cells as well as to CD8(+) cytolytic T cell effector and memory generation, influencing the T lymphocyte response to different viruses. X-linked lymphoproliferative syndrome type 1 (XLP-1) is a primary immunodeficiency syndrome that is characterized by a high susceptibility to Epstein-Barr virus. We observed in a pediatric patient with XLP-1 that IL-21 was expressed in nearly all peripheral blood CD4(+) and CD8(+) T cells.

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.

Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the G6PC3 gene. To date, all patients bearing the p.Gly260Arg variant of the G6PC3 gene show heart defects.