Background: Measurement of holotranscobalamin (holoTC) is increasingly used as a screening test for cobalamin (Cbl) deficiency. A level well below the reference interval strongly supports a deficient state. We examined a 21-year-old woman diagnosed as Cbl deficient because of an extremely low holoTC level as measured by the Abbott Architect Assay. Methods: The patient was evaluated for Cbl deficiency employing an in-house holoTC method as well as other routine markers of Cbl status. Further analyses included exploration of the Cbl binding proteins employing gel filtration of a serum sample saturated with 57 Co-labeled Cbl and Sanger sequencing of exons 1-9 and the intron-exon boundaries of the TCN2 gene, the gene coding for transcobalamin (TC). Results: The patient had normal hematological variables throughout. Despite initial treatment with Cbl, holoTC as measured by the Abbott assay remained low, while holoTC measured with the in-house assay was normal, and behaved as TC upon gel-filtration. By Sanger sequencing, we detected a homozygous single point mutation c.855T > A in exon 6 of TCN2, corresponding to a asparagine (Asn) to lysine (Lys) substitution in position 267 of the mature protein. Conclusions:We describe a novel point mutation of the TCN2 gene. The mutation does not seem to interfere with

The results of the study suggest that PPI may reduce otherwise intractable protease-induced skin irritation in infants.

Abstract. Indirect hemagglutination studies were performed on 10 incomplete anti‐Rh sera from mothers after incompatible pregnancies, on 19 incomplete anti‐Rh plasma samples from preimmunized and repeatedly boosted individuals and on 3 anti‐Rh plasma pools. Group O Rh‐positive red blood cells were agglutinated by antisera to immunoglobulins. Anti‐Rh antibodies after incompatible pregnancies were found to belong to the immunoglobulin class IgG and to the subclasses IgG1, IgG3 and IgG4 only. In most anti‐Rh samples from preimmunized and repeatedly boosted subjects, IgG and IgA were present. In six anti‐Rh samples of this group, the subclass IgG2 could be demonstrated.