Introduction: We assessed the efficacy of taurolidine lock (TL) in preventing catheter-related bloodstream infections (CRBSIs) and related hospitalizations in children with parenteral nutrition (PN) in the home setting. Methods: This study is a retrospective case series study. All children with intestinal failure in a single center in southern Israel who were administered PN and treated with TL between 2017 and 2024 were included. The rates of CRBSI episodes, related hospitalizations and pathogen distribution in the pre-TL and post-TL periods were compared. Results: Overall, 14 patients were included. The median pre-TL and post-TL periods were 990 and 1260 days, respectively. The rate of CRBSI episodes due to bacterial infection per 1000 days declined by 45%, from 6.2 to 3.7, with p = 0.0008, while fungal CRBSI rates were low (<10% of all positive cultures) and did not decline significantly. Similarly, the hospitalization episode rate per 1000 days declined by 41%, from 7.6 to 4.5, with p = 0.001. Conclusions: Taurolidine lock treatment for children with central-line PN resulted in a substantial decrease in CRBSI episodes and related hospitalizations.

Background: Previous studies identified early‐life antibiotic exposure as a risk factor for childhood asthma. However, this association may be confounded by an indication, as antibiotics are often prescribed for respiratory infections, which themselves promote asthma. To mitigate this bias, we aim to assess the unique contribution of postnatal antibiotic therapy, given to non‐infected infants for maternal indication, on childhood asthma risk.Methods: We screened electronic medical records to identify healthy full‐term infants born during 2006–2018 to mothers with a positive group B streptococcus (GBS) vaginal culture. Infants with postnatal respiratory symptoms/pneumonia or positive blood/cerebrospinal fluid cultures were excluded. The primary outcome was an asthma diagnosis by age 6 years. We fitted a multivariable quasi‐Poisson regression model to assess the unique contribution of antibiotic treatment to asthma diagnosis. As a validation step, we utilized a propensity model in which infants treated with antibiotics were matched 1:3 with infants not treated.Results: The cohort included 14,807 infants, of whom 311 received antibiotics. After controlling for potential confounders, postnatal antibiotic exposure was associated with higher asthma risk (adjusted risk ratio [aRR] = 1.3, 95%; confidence interval [CI] 1.04–1.61, p = .017). Higher asthma risk was validated in the propensity model (aRR = 1.49, 95% CI 1.12–1.96 p = .005). Postnatal antibiotic therapy was also associated with secondary outcomes such as the short‐acting beta‐ag use (aRR = 1.13, 95% CI 0.99–1.28, p = .072) and allergic rhinitis diagnosis (aRR = 3.00, 95% CI 1.43–6.30, p = .003).Conclusions: Postnatal antibiotic therapy administrated for maternal GBS, not confounded by infants' infections, was associated with higher childhood asthma risk.

Background: Mutations in the UDP-galactose 4’-epimerase (GALE) gene disrupt the Leloir pathway of galactose metabolism and play a key role in protein and lipid glycosylation by providing essential nucleotide sugar donors. While GALE deficiency is known to cause galactosemia and thrombocytopenia, its impact on the human immune system remains largely unexplored. We aimed to characterize a novel immunodeficiency phenotype associated with the homozygous p.R51W GALE variant. Methods: We performed a comprehensive immunological evaluation of seven pediatric patients (aged 2.5–10 years) homozygous for the p.R51W GALE variant. Assessments included immunoglobulin levels, vaccine-specific antibody responses, lymphocyte subsets, and kappa-deleting recombination excision circles (KRECs). Results: All patients exhibited profound B-cell lymphopenia (0.06–0.12 × 10^3/µl). While KREC levels were detectable, absolute counts (6–50 copies/µL) were significantly below the age-specific 5th percentile, suggesting a quantitative defect in central B-cell output. Detailed B-cell phenotyping demonstrated preservation of the full spectrum of maturation stages, indicating no absolute block in differentiation. Serum IgA and IgM were consistently low, whereas IgG levels were preserved or elevated, driven by a paradoxical increase in the IgG3 subclass. Specific antibody responses were impaired. Clinically, patients suffered from recurrent viral respiratory infections but lacked invasive bacterial disease. Conclusion: The p.R51W GALE variant results in a distinct hematopoietic stress phenotype characterized by significant quantitative B-cell deficiency. The absence of a clear differentiation block suggests that lymphopenia results from reduced central B-cell output combined with impaired peripheral homeostasis. We propose that the underlying GALE-mediated glycosylation defect compromises B-cell homeostasis. These findings identify GALE deficiency as a novel cause of primary immunodeficiency and suggest that immunological screening is warranted in affected patients.

Carbonic anhydrase VA (CA5A) deficiency (OMIM 615751) is an ultra-rare inborn error of metabolism, presenting in newborns, infants, and young children with a pentad of encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia. We present two cases: a case of a healthy Bedouin infant admitted with hyperammonemic encephalopathy that required urgent hemodialysis, and her younger sibling, who presented with a milder episode. Molecular analysis confirmed the diagnosis of CA5A deficiency due to a homozygous missense variant in the CA5A gene. Both patients had a favorable outcome with continued normal development. These were the first identified cases of CA5A deficiency in the Bedouin population, emphasizing the importance of a high index of suspicion, early genetic consultation and diagnosis, and prompt treatment at the earliest possible stage of a hyperammonemic crisis.