One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Autism Spectrum Disorder Traits Predict Interoceptive Deficits and Eating Disorder Symptomatology in Children and Adolescents with Anorexia Nervosa-A Cross-Sectional Analysis: Italian Preliminary Data.

Background: Anorexia Nervosa (AN) is a severe Feeding and Eating Disorder (FED) that is more prevalent in females, often manifesting during adolescence. Recent research highlights an elevated presence of comorbid Autism Spectrum Disorder (ASD) traits among individuals with AN, with specific expressions in females accounting for sensorial and interoceptive experiences. This study retrospectively explores the association between ASD traits, eating symptomatology, and interoceptive deficits in Italian female adolescents with AN.

Diazoxide toxicity in congenital hyperinsulinism: A case report.

Background: Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects. This report aims to highlight a seldom-considered rare side effect of diazoxide. We believe that this brief report is of general interest to readership and increase the physicians' awareness of the guideline importance.

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.

Background: Deficiency of adenosine deaminase 2 (DADA2) is a complex monogenic disease caused by recessive mutations in the ADA2 gene. DADA2 exhibits a broad clinical spectrum encompassing vasculitis, immunodeficiency, and hematologic abnormalities. Yet, the impact of DADA2 on the bone marrow (BM) microenvironment is largely unexplored.