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.

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.

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.

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination. The affected individuals bore the same homozygous IFNAR2 c.

Good's Syndrome: Time to Move on From Reviewing the Past.

For seven decades, the pathophysiology of Good's syndrome (GS) has remained a mystery, with few attempts to solve it. Initially described as an association between hypogammaglobulinemia and thymoma, controversy exists whether this is a unique disease, or a subgroup of Common Variable Immune Deficiency (CVID). Recently, some distinguishing aspects of both syndromes have come to light reflecting fundamental differences in their underlying pathophysiology.

Vitamin D in the prevention of exacerbations of asthma in preschoolers (DIVA): protocol for a multicentre randomised placebo-controlled triple-blind trial.

Introduction: Preschoolers have the highest rate of emergency visits and hospitalisations for asthma exacerbations of all age groups, with most triggered by upper respiratory tract infections (URTIs) and occurring in the fall or winter. Vitamin D insufficiency is highly prevalent in Canadian preschoolers with recurrent asthma exacerbations, particularly in winter. It is associated with more URTIs and, in patients with asthma, more oral corticosteroid (OCS) use.

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.

Purpose: Primary ciliary dyskinesia (PCD) is a rare disorder of the mucociliary clearance leading to recurrent upper and lower respiratory tract infections. PCD is difficult to clinically distinguish from other entities leading to recurrent oto-sino-pulmonary infections, including primary immunodeficiency (PID). Nasal nitric oxide (nNO) is a sensitive and specific diagnostic test for PCD, but it has not been thoroughly examined in PID.

Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications.

Purpose: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and clinical manifestations such as infections, autoimmunity, and malignancy. We sought to determine if responsiveness to interleukin-21 (IL-21), a key cytokine for B cell differentiation, correlates with distinct clinical phenotypes in CVID.

Methods: CVID subjects were recruited through the Canadian Primary Immunodeficiency Evaluative Survey registry.

The Risk of Recurrent Anaphylaxis.

Objectives: To determine the recurrence rate of anaphylaxis in children medically attended in an emergency department (ED), we performed a prospective cohort study to evaluate prehospital and ED management of children with recurrent anaphylaxis and to assess factors associated with recurrent anaphylaxis.

Study Design: As part of the Cross-Canada Anaphylaxis Registry, parents of children with anaphylaxis identified prospectively in 3 EDs and through an emergency medical response service were contacted annually after presentation and queried on subsequent reactions. Cox regression analysis determined factors associated with recurrence.

T-cell receptor phenotype pattern in atopic children using commercial fluorescently labeled antibodies against 21 human class-specific v segments for the tcrβ chain (vβ) of peripheral blood: a cross sectional study.

Background: T-cell receptor (TCR) repertoire development is an integral part of the adaptive immune response. T-cell activation requires recognition of appropriately processed antigens by the TCR. Development of a diverse repertoire of TCRs is therefore essential to ensure adequate protection from potential threats.

Tryptase levels in children presenting with anaphylaxis: Temporal trends and associated factors.

Background: The diagnosis of anaphylaxis currently relies on suggestive clinical history after exposure to a potential triggering factor because no reliable diagnostic marker is available to confirm the diagnosis.

Objectives: We aimed to evaluate tryptase levels in children with anaphylaxis and to examine predictors of elevated tryptase level (defined as ≥11.4 μg/L during reaction and for those with a baseline level, defined as a reaction level of at least 2 ng/mL + 1.

Humoral Primary Immunodeficiencies in Chronic Rhinosinusitis.

Chronic rhinosinusitis (CRS) may be the primary presenting symptom for primary immunodeficiencies (PID). PID can affect the humoral or the cellular immune system. This paper provides an overview of PID which affect the humoral immune system, with details around the diagnostic criteria, the epidemiology, the subtypes, the clinical manifestations, underlying molecular mechanisms, methods to screen for PID and the management of CRS in the context of PID.

Accidental exposures to peanut in a large cohort of Canadian children with peanut allergy.

Background: We previously estimated that the annual rate of accidental exposure to peanut in 1411 children with peanut allergy, followed for 2227 patient-years, was 11.9% (95% CI, 10.6, 13.

Rate, triggers, severity and management of anaphylaxis in adults treated in a Canadian emergency department.

Background: The Cross-Canada Anaphylaxis Registry (C-CARE) assesses the triggers and management of anaphylaxis and identifies predictors of the development of severe allergic reactions and of epinephrine use. Here, we present data from an urban adult tertiary care emergency department (ED) in Montreal, Canada.

Methods: Potential anaphylaxis cases were identified using ICD-10 codes related to anaphylaxis or allergic reactions.

Canadian allergists' and nonallergists' perception of epinephrine use and vaccination of persons with egg allergy.

Background: Studies suggest knowledge gaps about epinephrine use and vaccination of persons with egg allergy.

Objective: We compared the perception of Canadian allergists and nonallergists on issues related to epinephrine use and vaccination of persons with egg allergy.

Methods: Canadian allergists, pediatricians, general practitioners/family physicians and emergency room physicians were recruited through medical associations and surveyed on these issues.

Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.

Oral immunotherapy for milk allergy.

Background: The mainstay of treatment of IgE-mediated cow milk allergy (IMCMA) is an avoidance diet, which is especially difficult with a ubiquitous food like milk. Milk oral immunotherapy (MOIT) may be an alternative treatment, through desensitization or induction of tolerance.

Objectives: We aim to assess the clinical efficacy and safety of MOIT in children and adults with IMCMA as compared to a placebo treatment or avoidance strategy.