Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.

An early adolescent male with Shashi-Pena syndrome (SPS), characterised by a novel heterozygous pathogenic variant (*22) in the gene, presented with a spectrum of manifestations. These encompassed intellectual disability, severe scoliosis, unique facial dysmorphisms, congenital heart disease, recurrent infections and autoimmune cytopenia. Distinctively, this case revealed late-onset hypogammaglobulinaemia and autoimmune cytopenia, which had not been previously documented in SPS.

Predicting Cow's Milk Challenge Outcomes in Children: Multivariate Analysis of Clinical Predictors.

Introduction: Oral food challenges are the gold standard for diagnosis and reactivity thresholds but are resource intensive and high risk for reactions. Limited data on factors associated with increased risk of positive oral food challenges exist. We aimed to assess factors associated with positive oral food challenges and create a model to predict cow milk oral food challenge outcomes.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Inborn errors of immunity (primary immunodeficiencies).

Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g.

Symptomatology and Management of Adult Anaphylaxis according to Trigger: A Cross-Sectional Study.

Introduction: Anaphylaxis is an acute life-threatening allergy, most commonly provoked by food, venom, or drugs. There is limited data regarding differences in symptomatology between anaphylaxis provoked by different triggers. This study aimed to assess sociodemographic characteristics, clinical symptoms, and management of anaphylaxis, according to triggers in adults.

Comparing Two Peanut Desensitization Protocols in Preschool Children: A Real-World Clinical Practice.

Introduction: Peanut allergy is the main food allergy in childhood and poses significant health concerns. This study aimed to critically evaluate the effectiveness and safety of oral immune therapy (OIT) using crushed peanuts versus peanut puffs.

Methods: Children with an allergist diagnosed peanut allergy based on a history of an IgE-mediated reaction and a positive skin prick test for peanuts were recruited at the Montreal Children's Hospital and the Children's Clinic located in Montreal.

Management of anaphylaxis after pre-hospital epinephrine use in children with food-induced anaphylaxis.

Background: Previous guidelines recommend prompt epinephrine administration, followed by observation in the emergency department (ED). The need for transfer in all cases of anaphylaxis has recently been challenged.

Objective: To evaluate the need for additional ED treatment among children with anaphylaxis who received prehospital epinephrine.

Trends of Peanut-Induced Anaphylaxis Rates Before and After the 2017 Early Peanut Introduction Guidelines in Montreal, Canada.

Background: Food allergies, particularly peanut, represent the predominant cause of anaphylaxis. Whereas early allergen introduction has emerged as a potential preventive strategy, the precise impact of recent guidelines on peanut-induced anaphylaxis rates in Canada remains unclear.

Objective: To assess the impact of the 2017 Addendum Guidelines for the Prevention of Peanut Allergy on peanut-induced anaphylaxis rates in Canada.

Clinical characteristics and management of pediatric egg-induced anaphylaxis: A cross-sectional study.

Background: Egg is the third most common food allergy in children; however, data on pediatric egg-induced anaphylaxis are sparse.

Objective: To describe the clinical characteristics, management, and outcomes of pediatric egg-induced anaphylaxis.

Methods: Children presenting with anaphylaxis were recruited from 13 emergency departments as part of the Cross-Canada Anaphylaxis Registry, from which data on anaphylaxis triggered by egg were extracted.

Assessing Pediatric Cephalosporin Allergic Reactions Through Direct Graded Oral Challenges.

Background: Cephalosporins, β-lactam antibiotics, commonly cause allergic reactions.

Objective: To assess the clinical characteristics and management of pediatric patients with suspected cephalosporin allergy using direct graded oral challenges (GOCs).

Methods: Children referred for suspected cephalosporin allergy at 4 Canadian clinics were recruited over 10 years.

COVID vaccine evaluation of barriers and resources among families of children with diagnosed allergies.

Background: We aimed to determine vaccine hesitancy and the main barriers associated with the 2019 novel coronavirus, SARS-CoV-2 (COVID-19) vaccination among families of children diagnosed with food/drug/environmental allergies.

Methods: Between May and June 2021, we approached 146 families seen at the outpatient allergy clinic at the Montreal Children's Hospital and a community allergy practice were invited to complete an anonymous online survey on COVID-19 and vaccination attitudes and behaviour. Uni and multivariable logistic regressions were compared to estimate factors associated with vaccine hesitancy.

Bridging knowledge gaps in paediatric chronic urticaria through a video-based educational tool.

Background: There is a lack of patient educational resources about chronic urticaria (CU).

Aims: To develop and test the effectiveness of an education tool to help paediatric patients and their families better understand CU and its management.

Methods: From July 2020 to May 2022, paediatric patients with a history of CU who presented to the allergy outpatient clinics at our institution were recruited.

Temporal trends in anaphylaxis ED visits over the last decade and the effect of COVID-19 pandemic on these trends.

Background: Anaphylaxis is an acute systemic and potentially fatal allergic reaction. We evaluated trends in yearly rates of anaphylaxis in a pediatric Emergency Department (ED) in Montreal, Canada.

Methods: A prospective and retrospective recruitment process was used to find families of children who had presented with anaphylaxis at the Montreal Children's Hospital between April 2011 and April 2021.

Bridging Knowledge Gaps in Anaphylaxis Management Through a Video-Based Educational Tool.

We aimed to develop and test the effectiveness of an education tool to help pediatric patients and their families better understand anaphylaxis and its management, and to improve current knowledge and treatment guidelines adherence. From June 2019 to May 2022, 128 pediatric patients with history of food-triggered anaphylaxis who presented to the allergy outpatient clinics at the study institution were recruited. Consenting families were asked to complete 6 questions related to the triggers, recognition, and management of anaphylaxis at the time of presentation to the clinic.

Impact of Reaction Setting on the Management, Severity, and Outcome of Pediatric Food-Induced Anaphylaxis: A Cross-Sectional Study.

Background: Prompt epinephrine autoinjector (EAI) use is the primary treatment for anaphylaxis. However, limited Canadian data exist on the impact of reaction location on EAI use for food-induced anaphylaxis (FIA).

Objective: We sought to investigate the setting, management, and severity of pediatric FIA.

Skin prick test in milk allergic patients undergoing oral immunotherapy: Does the milk form used for skin tests matter?

SPT is the most commonly used confirmatory test for an IgE-mediated milk allergy. However, food SPTs are not standardized. We aimed to assess the accuracy of SPTs with extract, diluted, and undiluted milk to detect desensitization in children with milk allergy undergoing OIT.