Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.

Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case.

Clinical and laboratory characteristics of type I (insulin dependent) diabetes mellitus at presentation among Bulgarian children.

Clinical and laboratory data of 1248 newly diagnosed diabetic children at the time of diagnosis were analysed. All children were admitted to the University Children's Hospital in Sofia, 45.9% before first their insulin injection.

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.

A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU.