Israel Medical Association Journal

Inborn errors of immunity (IEI), formerly known as primary immunodeficiencies (PID), comprise a diverse group of genetic disorders characterized by increased susceptibility to infections, autoimmunity, autoinflammatory conditions, allergies, and malignancies. These disorders exhibit a broad spectrum of clinical manifestations, including extra-hematopoietic manifestations, which may also present later in life. IEI diagnosis has significantly advanced, in line with the common use of next-generation sequencing-based genetic platforms, such as whole-exome and whole-genome sequencing. Treatment approaches have evolved beyond infection management to include curative therapies such as hematopoietic stem cell transplantation, gene therapy, and targeted pharmacologic treatments. In this review, we explore recent advancements in the understanding, diagnosis, and treatment of IEI, emphasizing the rapid progress in this expanding field.

Background: A substantial number of premature deliveries occur in hospitals lacking neonatal intensive care facilities. We previously demonstrated a comparable outcome of very low birth weight infants delivered in a level II nursery to that of inborn infants delivered in our tertiary care center, but a similar comparison of extremely low birth weight infants has not been done.

Objectives: To compare the neonatal outcome (mortality, severe intraventricular hemorrhage/periventricular leukomalacia, bronchopulmonary dysplasia and intact survival) of inborn and outborn ELBW[1] infants, accounting for sociodemographic, obstetric and perinatal variables.

Methods: We compared 97 ELBW infants (birth weight ≤ 1000 g.) delivered between the years 2000 and 2004 in a hospital providing neonatal intensive care to 53 ELBW babies delivered in a referring hospital. A univariate model was first applied to examine the associations of the individual independent variables with the outcome variable, followed by a logistic stepwise regression analysis for each of the outcome variables. The odds ratios for each predictor were reported as well as their P values and 95% confidence intervals.

Results: In the stepwise logistic regression analysis, accounting for a possible confounding effect of the independent variables, ‘hospital of birth’ remained a statistically significant predictor in the final step only for mortality, with odds ratio (inborns relative to outborns) of 3.32 (95%CI[2] 1.19–9.28, P = 0.022). No statistically significant associations with the other outcome variables were found (severe IVH[3]/PVL[4] odds ratio = 1.99, 95%CI = 0.77–5.14, P = 0.155; BPD[5] odds ratio = 0.60, 95%CI = 0.19–1.91, P = 0.384; intact survival OR[6] = 0.56, 95%CI = 0.23–1.35, P = 0.195).