Roifman syndrome: a description of further immunological and radiological features.

Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. New radiological features are also described here which may assist in the diagnosis of other patients.

A longitudinal study of hymenoptera stings in preschool children.

BACKGROUND: Insect venom is the second most common cause of anaphylaxis outside of medical encounters. Stings cause over 20% of all anaphylactic deaths and 7% of anaphylaxis in children. To date, there have been no longitudinal studies of insect sting events or allergy in preschool children. METHODS: A prospective longitudinal nested observational study in the BASELINE Birth Cohort Study (n = 2137). Sting-related questions were asked at 6 and 12 months and 2 and 5 years. Skin prick testing (SPT) was performed at 2 and 5 years. SpIgE testing was performed on selected cases at 2 years. RESULTS: Seventy-seven children (6.8%) were stung by the age of 2. Of these, 25 (32.5%) reported adverse reactions (four systemic). Eleven (0.9%) had positive SPT at 2 years (eight bee, two wasp, one both). Four stung children had positive SPT. Two (one stung, one never stung) had positive spIgE to a venom component at 2 years. A total of 268 children (21.9%) were stung by 5 years, 144 (52.1%) reporting local reactions and none systemic. Four children (0.4%) had positive SPT at 5 years: one bee and three wasp. Of the 11 SPT-positive children at 2 years, none were still positive at 5 years. CONCLUSION: This is the first longitudinal study of the natural history of hymenoptera stings and allergy in preschool children. Hymenoptera venom allergy is less common in this cohort than in adults. Systemic reactions were not medically documented in this population, in keeping with previous literature. This study confirms the poor correlation of IgE sensitization to venom with sting allergy and does not support the common parental request to screen children for sting allergy.