Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SCID with delayed onset, moderate susceptibility to infections, and nodular regenerative hyperplasia. He presents with preserved STAT5 tyrosine phosphorylation in response to IL-15 stimulation but not in response to IL-2 and IL-7, resulting in the NK phenotype.

Allergic contact dermatitis in children: which factors are relevant? (review of the literature).

Allergic contact dermatitis (ACD) in children is increasing. Sensitization to contact allergens can start in early infancy. The epidermal barrier is crucial for the development of sensitization and elicitation of ACD. Factors that may influence the onset of sensitization in children are atopic dermatitis, skin barrier defects and intense or repetitive contact with allergens. Topical treatment of ACD is associated with cutaneous sensitization, although the prevalence is not high. ACD because of haptens in shoes or shin guards should be considered in cases of persistent foot eruptions or sharply defined dermatitis on the lower legs. Clinical polymorphism of contact dermatitis to clothing may cause difficulties in diagnosing textile dermatitis. Toys are another potentially source of hapten exposure in children, especially from toy-cosmetic products such as perfumes, lipstick and eye shadow. The most frequent contact allergens in children are metals, fragrances, preservatives, neomycin, rubber chemicals and more recently also colourings. It is very important to remember that ACD in young children is not rare, and should always be considered when children with recalcitrant eczema are encountered. Children should be patch-tested with a selection of allergens having the highest proportion of positive, relevant patch test reactions. The allergen exposure pattern differs between age groups and adolescents may also be exposed to occupational allergens. The purpose of this review is to alert the paediatrician and dermatologist of the frequency of ACD in young children and of the importance of performing patch tests in every case of chronic recurrent or therapy-resistant eczema in children.

Impact of Labor on Peripheral Blood Maternal T-Cell Subsets and on Regulatory T and B Cells.

PURPOSE: Labor is thought to positively influence immune system development in the offspring, but studies investigating the impact of different modes of delivery on maternal immune system cells are scarce. Therefore, the aim of this study was to investigate the effect of labor on maternal peripheral blood T-cell subsets and on the recently described regulatory T and B cells. METHODS: Cross-sectional study comparing the absolute counts and percentages of peripheral blood T-cell subsets (maturation and activation profiles) and regulatory T and B cells between healthy pregnant women who delivered their newborns via elective cesarean (no labor; n = 14) and those who had a spontaneous vaginal delivery (after labor; n = 18). The cells were characterized using flow cytometry. RESULTS: We found that compared to the women who had elective cesareans, those who had spontaneous vaginal deliveries had significantly ( P < .05) lower absolute counts of B cells (median [cells/µL]: 146 [interquartile range, IQR = 49] vs 192 [IQR = 65]) and natural killer-like T (NKT-like) cells (median [cells/µL]: 154 [IQR = 125] vs 224 [IQR = 117]) in the peripheral blood. No further significant differences, particularly in regulatory T and B cells, were identified between the study groups. CONCLUSION: Labor does not seem to have a major impact on maternal peripheral blood T-cell subsets or regulatory T and B cells.