Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.

Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disease (PID) characterized by a regulatory T cell defect resulting in immune dysregulation and autoimmunity. We present two siblings born to consanguineous parents of North African descent with LRBA deficiency and central nervous system (CNS) manifestations. As no concise overview of these manifestations is available in literature, we compared our patient's presentation with a reviewed synthesis of the available literature.

Disseminated Tuberculosis Mimicking as Crohn's Disease in a Paediatric Patient.

Tuberculosis is an important infectious disease for children worldwide. The clinical presentation of tuberculosis in children is diverse and, depending on the affected organs, it is often accompanied with nonspecific symptoms that can mimic other diseases. In this report, we present a case of disseminated tuberculosis in an 11-year-old boy with intestinal followed by pulmonary involvement.

Aberrant Mucin Expression Profiles Associate With Pediatric Inflammatory Bowel Disease Presentation and Activity.

Background: Intestinal mucosal healing is nowadays preferred as the therapeutic endpoint in inflammatory bowel disease (IBD), but objective measurements at the molecular level are lacking. Because dysregulated mucin expression is suggested to be involved in mucosal barrier dysfunction in IBD, we investigated mucin expression in association with barrier mediators and clinical characteristics in colonic tissue of a pediatric IBD population.

Methods: In this cross-sectional monocentric study, we quantified messenger RNA (mRNA) expression of mucins, intercellular junctions, and cell polarity complexes in inflamed and noninflamed colonic biopsies from pediatric IBD (n = 29) and non-IBD (n = 15) patients.

Evaluation of a Europe-wide Survey on Paediatric Nutrition Training.

Commissioned by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), we investigated how European physicians training in these fields are educated in nutrition. A survey on time spent in nutrition training, composition of multidisciplinary nutrition teams, and topics covered during training enrolled 50 participants. A median of 20% of training time was spent on nutrition training during fellowship.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do not receive a transplant.

Objective: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant.

Method: We assessed disease burden and treatment responses with a specially developed immune deficiency and dysregulation activity score, reflecting the sum and severity of organ involvement and infections, days of hospitalization, supportive care requirements, and performance indices.