Normal Thymic Size and Low Rate of Infections in Human Donor Milk Fed HIV-Exposed Uninfected Infants from Birth to 18 Months of Age

Objective. To evaluate the immune function in HIV-exposed uninfected (HIV-EU) infants fed human donor milk. Methods. Ultrasound-obtained thymic index (Ti), T-lymphocyte subsets, and the number of infections were examined from birth to 18 months of age in 18 HIV-EU infants. The infants were compared to a cohort of 47 term, HIV-unexposed breastfed or formula-fed infants. Results. The thymic size at 12 months of age was not significantly different between the HIV-EU group and the control infants (P=0.56). At 4 months of age, the HIV-EU infants had significantly fewer infections than the control infants (P<0.001). Furthermore, in the control group, the infants exclusively breastfed at 4 months of age had significantly fewer infections at 8 months when compared to age-matched formula-fed infants (P=0.001). Conclusion. HIV-EU infants fed human donor milk have normal growth of thymus and contract fewer infections than other healthy infants. This finding along with fewer infections in exclusively breastfed infants compared to formula-fed infants supports the beneficial effect of human milk on the immune system. We suggest, when breastfeeding is not possible, that providing human donor milk to vulnerable groups of infants will be beneficial for their maturing immune system

Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare inherited disorder of the innate immune system caused by a defect in NADPH oxidase, leaving the granulocytes unable to kill invading microorganisms. CGD is caused by mutation in one of the five components gp91phox, p22phox, p47phox, p67phox and p40phox, encoded by the X-linked CYBB gene and the autosomal CYBA, NCF1, NCF2 and NCF4 genes respectively. We have collected samples from all Danish patients with known CGD followed in the clinic or newly diagnosed during a 5-year period, a cohort of 27 patients, and characterized them genetically. The cohort includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele. Six patients had mutation in CYBA. Seven of 10 patients with a defect in NCF1 were homozygous for the common GT deletion, one was compound heterozygous for the GT deletion and a splice-site mutation, and two patients were homozygous for a nonsense mutation in exon 7. Three novel mutations were detected, a deletion of exon 6 in CYBA, a duplication of exon 813 in CYBB and a splice site mutation in intron 7 of NCF