Hospital admissions for urticaria in a pediatric emergency department of a tertiary care hospital.

Background: Urticaria is a common disorder, estimated to affect 2.1 to 6.7% of children and adolescents, and is a frequent cause of emergency department (ED) admissions.

A Study on the Health and Wellness of Undergraduate Students (SABES-Grad): methodological aspects of a nationwide multicenter and multilevel study overlapping with the Covid-19 pandemic.

Introduction: The academic environment can negatively impact the mental health of undergraduate students, particularly in the context of the coronavirus disease 2019 (Covid-19) pandemic. This study aimed to describe the methodological and operational aspects of a study of the health and well-being of undergraduate students: the Study on the Health and Wellness of Undergraduate Students (SABES-Grad) project.

Method: This was a nationwide cross-sectional study divided across two data collection strategies: a single-center, on-site data collection carried out in 2019 at the Universidade Federal do Rio Grande (FURG) and a multicenter, multilevel, online data collection carried out in 2020/2021 at FURG, the Universidade Federal Fluminense (UFF), the Universidade Federal do Mato Grosso (UFMT), the Universidade do Estado do Amazonas (UEA), and the Universidade Federal Rural de Pernambuco (UFRPE).

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Background: Acute liver failure (ALF) in children can be life-threatening. Although many causes are known, ALF remains unexplained in about half of the cases. Recently, bi-allelic mutations in NBAS were reported to underlie recurrent episodes of elevated liver transaminases (ELT) and ALF in the context of diverse extrahepatic phenotypes.

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. Increased levels of very long chain fatty acids are the biochemical hallmark and the most common mutations found in the PEX1 gene.

Pneumococcal vaccine failure: can it be a primary immunodeficiency?

Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotype Streptococcus pneumoniae was isolated in the blood culture.

[Serratia osteomyelitis and chronic granulomatous disease].

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency disorder characterized by recurrent purulent infections of the skin, lungs, and reticuloendothelial organs, primarily due to staphylococci, enteric bacteria, fungi, and occasionally mycobacteria. More than two thirds of all cases are X-linked and result from defects in the CYBB gene that encodes the gp91-phox subunit of NADPH oxidase. The authors present a case of a three month old child admitted with a metacarpic steomyelitis by Serratia marcescens.

Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies.

The bacilli Calmette-Guérin (BCG) vaccine is administered to all newborns in countries where tuberculosis is endemic. Immunocompromised hosts, namely patients with human immunodeficiency virus infection or primary immunodeficiencies, are especially prone to serious complications from this vaccine. We report three cases of BCG disease in children with primary immunodeficiencies: one with a partial recessive interferon-γ receptor 1 deficiency, who developed BCG dissemination; and two relatives with ZAP70 deficiency, a severe combined immunodeficiency, both of whom presented with regional and distant BCG disease.

Neutropenia in antibody-deficient patients under IVIG replacement therapy.

Patients with antibody deficiencies are more prone to develop acute neutropenic episodes even during immunoglobulin replacement. The aims of this study were to evaluate the presence of acute neutropenia in 42 patients with primary antibody immunodeficiencies, currently receiving intravenous immunoglobulin (IVIG), and to describe the clinical and laboratory findings during neutropenic episodes. Of all patients, 10 (23.