Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.

Takayasu's arteritis as an incidental finding in a patient with celiac disease: the importance of positron emission computed tomography.

Background: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children.

Case Report: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease.

Effect of an intervention to improve the prescription of antifungals in pediatric hematology-oncology.

Background: The use of antifungals has expanded in pediatric hematology-oncology, and the need to develop pediatric-based surveillance and education activities is becoming crucial. The aims of this study were to evaluate the impact of a multidisciplinary protocol on the adequacy of antifungal prescription in a pediatric hematology-oncology unit and to assess the effect of an educational intervention to improve the knowledge of prescribing pediatricians over time.

Methods: A multidisciplinary team established a protocol for the management of invasive fungal disease (IFD).

Low-risk factors for severe bacterial infection and acute chest syndrome in children with sickle cell disease.

Introduction: The rate of bacterial infections in children with sickle cell disease (SCD) has decreased in recent years, mainly due to penicillin prophylaxis and vaccination.

Objectives: To determine the rate of severe bacterial infection (SBI) in a cohort of children with SCD and to describe low-risk factors for confirmed SBI (CSBI) and acute chest syndrome (ACS).

Methods: This 11-year retrospective cohort study included children with febrile SCD admitted to a reference hospital in Spain.

Assessment of orofacial pain management in a pediatric emergency department and at home after discharge.

Introduction: An inadequate pain management is common in the emergency department. Our objective was to analyze pain management among children with an orofacial infection or trauma in the emergency department and to assess compliance and satisfaction with analgesia prescribed at discharge.

Population And Methods: Cross-sectional, observational and analytical study in children attending the emergency department for an orofacial infection or trauma over 2 months.