STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.

Serine/threonine kinase 4 deficiency (STK4 or MST1, OMIM:614868) is an autosomal recessive (AR) combined immunodeficiency that can present with skin lesions such as epidermodysplasia verruciformis-like lesions (EVLL). Herein, we describe a 17-year-old male patient born from consanguineous parents presenting with recurrent respiratory infections, verruciform plaques, poikiloderma, chronic benign lymphoproliferation, and Sjögren syndrome with suspected interstitial lymphocytic pneumonia.

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

INTRODUCTION: Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear. OBJECTIVE: We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19. METHODS: In a retrospective study from March 2020 to February 2021, four centers in Mexico collected clinical, laboratory, and genetic data from pediatric and adult patients with known diagnoses of IEI who presented with COVID-19, based on compatible symptoms and positive SARS-CoV-2 testing or known household exposure. RESULTS: We report 31 patients with known IEI from Mexico who presented with SARS-CoV-2 infection. Seventy-four percent were male, 52% were pediatric, and 81% survived. Their ages ranged from 5 months to 56 years, with a median of 17 years. Sixty-five percent had predominant antibody deficiencies, 48% were hospitalized, and 26% required ICU. Pediatric patients had a higher hospital admission rate than adults. Inpatient mortality was 40%, and ICU mortality rate was 63%. Forty-eight percent developed pneumonia, while 36% had evidence of hyperinflammation (4 adults and 7 children). Predominant laboratory features were lymphopenia and thrombocytopenia, seen in 70 and 44% of patients, respectively. The serum D-dimer median value was 2.6 (0.5-20.6) µg/mL, and the median highest ferritin value was 1015 (32-10,303) ng/mL. Intravenous immunoglobulin was used in 80% of patients. Other treatments included macrolides (39%) and corticosteroids (29%). Six patients died from secondary infection or uncontrolled systemic inflammation. DISCUSSION: Although impaired immunity due to IEI may be a predisposing factor for severe COVID-19, most of our patients with IEI who acquired the SARS-CoV-2 infection developed a well-tolerated infection and survived, as have more than 80% of worldwide reported patients to date. An impaired immune or inflammatory response may be a predisposing factor for some and a protective factor for others. A systematic review of the literature could help identify those patients at risk of severe disease and complications. Healthcare-associated infections should be aggressively prevented.

Uso de clorhexidina y su papel preventivo en las infecciones del torrente sanguíneo asociadas a catéteres en los recién nacidos: revisión de tema / Use of chlorhexidine and its preventive role in catheter-associated bloodstream infections in newborns: a review

Resumen: las infecciones asociadas al cuidado de la salud representan un problema de salud pública y son un indicador de la calidad en prestación y gestión en salud. Es por esto que ha sido necesaria la creación de programas de vigilancia y control epidemiológico, y la adaptación e implementación de guías para su prevención. Estas estrategias mejoran la seguridad del pacientey deben ser una prioridad para las instituciones. En este contexto, la infección asociada a catéter es la más común de las infecciones asociadas al cuidado de la salud, principalmente en la población pediátrica, siendo los neonatos los más susceptibles a causa de la inmadurez de sus barreras primarias y sistema inmunológico, y a la alta frecuencia de procedimientos invasivos como los accesos vasculares para la administración de medicamentos o la nutrición parenteral. Actualmente existen múltiples medidas para prevenir dichas infecciones en pediatría y la tendenciaes crear estrategias bien estructuradas para facilitar su aplicación. La higiene de manos continúa siendo un pilar fundamental dentro de todos los protocolos para disminuir las tasas de infección asociadas al cuidado de la salud; sin embargo, se requiere de nuevas estrategias para la prevención de las mismas, como el uso de la clorhexidina como antiséptico tópico previo a la inserción de dispositivos intravasculares y el aseo rutinario en pacientes con caracteres centrales, lo cual es el objeto de revisión de este manuscrito.

Abstract: health care-associated infections are a public health concern and reflect healthcare quality. Hereby, it has been necessary to establish an epidemiologic surveillance system and the adaptation and implementation of guidelines for its prevention. These strategies improve safety in health care and must be a priority for all institutions. The most common healthcare-associated infection is catheter-associated bloodstream infection, especially in the pediatric population, with the newborns as the most vulnerable group due to immaturity of their immune system and the high rate of invasive procedures such as prolonged vascular access for administration of medicationor parenteral nutrition. Nowadays there are many proposals to prevent the infections in pediatricsand the current trend is to create well-structured strategies in order to facilitate their application. Hand’s hygiene remains a cornerstone in all the protocols to reduce the health care-associated infections, nevertheless, it requires new strategies to prevention this infections, as chlorhexidine use as a topic antiseptic prior to insertion of intravascular devices and for grooming routine in patients with central venous catheter, which is the reviewing aim this manuscript.