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Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel mutation not yet reported in literature. This 3-years old male child was referred to our Clinical Genetics Unit because of delayed psychomotor development, systolic murmur, dysmorphic facial features, and hypertransaminasemia. The novel JAG1 heterozygous c.2026delT variant in exon 16 was found. JAG1 mutations are classified as protein truncating and non-protein truncating, without any genotype-phenotype correlation. The detected mutation determines a stop codon (p.Cys676AlafsTer67) in the gene sequence, encoding a truncated protein. Our report broadens the spectrum of JAG1 gene mutations.

Objective: Immune thrombocytopenia (ITP) is an acquired immuno-mediated disorder characterized by thrombocytopenia with an increased risk of bleeding. In recent years 1,25[OH]2D3 has been rediscovered as an immune modulator. We decided to evaluate serum Vitamin D levels in a cohort of children with immune thrombocytopenia in order to discover if Vitamin D concentrations may predict ITP duration., Methods: Thirty children were enrolled in this study (sixteen with chronic ITP and fourteen with newly diagnosed ITP) to assess serum Vitamin D levels., Results: The results showed that 80% of the enrolled children presented a D hypovitaminosis status. Children with newly diagnosis ITP showed no statistically significantly higher median values of Vitamin D compared to chronic ITP., Conclusion: This study may suggest that Vitamin D deficiency does not represent a chronicity factor for ITP. However, further studies are needed to understand the role of Vitamin D in ITP pathogenesis., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Shiga toxin-producing Escherichia Coli (STEC) infections routinely run as a common gastroenteritis, but in many cases they may evolve towards hemolytic uremic syndrome (HUS). HUS is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Gut microorganisms have a fundamental impact on human physiology, because they modulate normal intestinal functions and play a pivotal role in influencing the local and systemic immune responses. Despite surveillance established in many countries and major progresses in the understanding of STEC-HUS mechanisms, no specific treatment is currently available. Targeting the gut microbiota could represent a new potential therapeutic strategy in STEC infection. In this paper, we reviewed the current knowledge about microbiota characteristics of patients with STEC infections, as well as in vitro and in vivo evidence of probiotic supplementation in managing STEC gastroenteritis and in HUS onset prevention.