Investigation of suspected deficient Fas-mediated apoptosis in a father and son.

BACKGROUND: A 2-year-old boy presented with symptoms consistent with a diagnosis of autoimmune lymphoproliferative syndrome (ALPS). His father had been splenectomized at age 12 with similar symptoms. ALPS is a rare hereditary syndrome that may result from a functional defect in Fas-mediated apoptosis. METHODS: Peripheral blood lymphocytes (PBL) and splenic lymphocytes from the patient and PBL from his father and a normal control were analyzed for surface Fas expression. They were then stimulated with an anti-Fas monoclonal antibody (DX2). Apoptosis was assayed by flow cytometry at 0, 20, 28, and 34 h. RESULTS: There was no significant difference in expression of Fas (CD95) in the PBL of the patient, his father, or the normal control, or the splenic lymphocytes. Compared with the normal control, the PBL of the patient and his father failed to progress to apoptosis. They also contained a markedly elevated proportion of CD3+CD4-CD8- "double-negative" cells. CONCLUSIONS: PBL from both the patient and his father expressed CD95, but failed to proceed to apoptosis after stimulation, suggesting a functional defect. These results and the clinical presentation are consistent with published descriptions of ALPS.

Respiratory syncytial virus: a report of a 5-year study at a children's hospital.

A study over a 5-year period (1979-1983) of RSV infections in children in Sydney, Australia is reported. In common with findings made elsewhere in the world, annual epidemics of RSV infection commencing in autumn and lasting 4-6 months, with peak activity in mid-winter, were observed in 1979, 1980, and 1983. However, in 1981 and 1982 virus activity was first detected in midsummer, peaked in autumn, and was present throughout most months of the year. The alteration in virus activity in 1981 and 1982 was not associated with changes restricted to these 2 years in factors such as the age groups or sex ratio of patients affected or in the clinical categories predominantly affected. A study of climatic variables, however, indicated unusually low rainfall in 3 of 4 years encompassing this period. Study over a longer period is indicated to determine if these observed alterations in seasonal activity of RSV will be repeated in future years. Any possible relationship of such a change to rainfall could then also be better assessed.

A report of a spring-summer outbreak of echovirus II infection.

A spring-summer epidemic of echovirus II in New South Wales, Australia, is reported. The symptomatology was found to be age dependent. Neonates and young infants tended to have a severe 'septicaemic' illness. Older infants had a variety of clinical presentations: aseptic meningitis, febrile convulsions, upper respiratory tract infections, and acute enteritis. Children over the age of two in this study uniformly presented with symptoms suggestive of aseptic meningitis--confirmed by cerebrospinal (CSF) cytology in the majority of cases. The clinical presentation of an acute febrile illness in the young child may not allow for distinction between bacterial and viral infection. The importance of the recognition and confirmation of a viral aetiology relates to the subsequent management: i.e. antibiotics may be withheld, hospitalisation may be shortened, and a more favourable prognosis can be made. Certain epidemiological clues and laboratory studies are helpful in suggesting a viral aetiology, but a definitive diagnosis of enteroviral infection may only be readily achieved by virus isolation in tissue culture.