Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement.

A 4-year-old boy presented with his mother to genetics in the 1980s, with a family history (FH) of macrocephaly and intellectual disability (ID). He remained undiagnosed until his mother developed multiple cancers and was diagnosed with Cowden syndrome (CS) in 2017, a rare, multisystem cancer predisposition syndrome. CS was then confirmed in multiple family members.

Assessment of the potency and potential immunomodulatory effects of the measles mumps rubella and varicella vaccine in infants.

This study compared the potency and immunomodulatory effects of measles mumps rubella (MMR) vaccine given to infants alone or in combination with varicella (MMR and V). In an additional group, MMR vaccination was delayed 42 days to permit analysis of potential effects on underlying maturation of systemic immune functions. Assessment of immunity to the vaccines indicated consistent antibody production coupled with mixed Th1/Th2 memory, and no significant differences between vaccine groups or to the group who had their MMR vaccination delayed.

High IFN-gamma production by CD8+ T cells and early sensitization among infants at high risk of atopy.

Background: High genetic risk (HR) of atopy among unstratified populations of infants is associated with attenuated IFN-gamma responses. However, the role of IFN-gamma in progression from HR status to active disease is less clear.

Objective: To identify immune function markers in neonates with HR that are associated with positive atopic outcomes at 2 years.

Development of interleukin-12-producing capacity throughout childhood.

Increasing evidence indicates that the capacity to induce protective Th1 immune responses is impaired in early childhood, an observation that can be partially attributed to deficiencies in antigen-presenting-cell function. Synthesis of interleukin 12 (IL-12), a key Th1-trophic cytokine, is markedly reduced in the neonatal period, though there is a paucity of knowledge concerning the ontogeny of IL-12-synthetic capacity throughout the childhood years. Hence, we examined the production of bioactive IL-12 p70 by circulating mononuclear cells in a population of healthy individuals.

Escherichia coli heat-labile enterotoxin B subunit prevents autoimmune arthritis through induction of regulatory CD4+ T cells.

Objective: The receptor-binding B subunit of Escherichia coli heat-labile enterotoxin (EtxB) is a highly stable, nontoxic protein that is capable of modulating immune responses. This study was conducted to determine whether mucosal administration of EtxB can block collagen-induced arthritis (CIA) and to investigate the mechanisms involved.

Methods: Clinical arthritis in DBA/1 mice was monitored following mucosal administration of EtxB on 4 occasions.