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Abstracts of the Immunodeficiency Canada 11th PID Symposium, 7 November 2024, Banff
Abstracts of the Immunodeficiency Canada 11th PID Symposium, 7 November 2024, Banff
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STAT5B germline heterozygous variant presenting with lymphadenopathy, atopy, and short stature
STAT5B germline heterozygous variant presenting with lymphadenopathy, atopy, and short stature
Background: Signal Transducers and Activators of Transcription (STAT) proteins are fundamental for multiple cellular proce...
Defective antibody production in double-strand DNA breakage syndromes: insights and implications
Defective antibody production in double-strand DNA breakage syndromes: insights and implications
DNA double-strand breakage (DSB) syndrome are rare monogenic inborn errors of immunity with a vast spectrum of manifestati...
Rare FLG mutation associated with severe atopy
Rare FLG mutation associated with severe atopy
Background: The prevalence of atopic disease, which consists of conditions such as atopic dermatitis, allergies, and asthm...
The impact of COVID-19 infection in pediatric and adult patients with primary immunodeficiency: a single center analysis
The impact of COVID-19 infection in pediatric and adult patients with primary immunodeficiency: a single center analysis
Background: The global impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been profound, with over...
Corrigendum: A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen
Corrigendum: A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen
Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toron...
Neurodevelopmental outcomes in two cases of artemis deficiency
Neurodevelopmental outcomes in two cases of artemis deficiency
Background: Severe Combined Immunodeficiency (SCID) is a category of inborn errors of immunity where there is impaired T a...
Abstracts of the Immunodeficiency Canada 10th PID Symposium, 19 October 2023, Ottawa
Abstracts of the Immunodeficiency Canada 10th PID Symposium, 19 October 2023, Ottawa
If you have the appropriate software installed, you can download article citation da...
Neurodevelopmental disorder and immunodeficiency
Neurodevelopmental disorder and immunodeficiency
Background: Neurodevelopment is closely entwined with immune maturation and function during embryogenesis. While haematopo...
Novel heterozygous mutation in NFKB2 in a patient with predominantly antibody deficiency
Novel heterozygous mutation in NFKB2 in a patient with predominantly antibody deficiency
Background: The Nuclear Factor-kappa B (NF-kB) signaling pathway plays a critical role in regulating a wide range of cellu...
Management of newborn screening for severe combined immunodeficiency at a quaternary referral centre—an updated algorithm
Management of newborn screening for severe combined immunodeficiency at a quaternary referral centre—an updated algorithm
Severe combined immunodeficiency (SCID) is caused by critical genetic defects affecting the immune system. Early diagnosis...
Identification of novel compound heterozygous LRBA mutations associated with recurrent hemophagocytic lymphohistiocytosis and CNS manifestations
Identification of novel compound heterozygous LRBA mutations associated with recurrent hemophagocytic lymphohistiocytosis and CNS manifestations
Background: Lipopolysaccharide-responsive beige-like anchor (LRBA) is an intracellular protein that regulates the recyclin...
Lung histopathology evaluation of an X-MAID patient with a novel mutation in MSN
Lung histopathology evaluation of an X-MAID patient with a novel mutation in MSN
Background: The cell cytoskeleton is regulated by the ezrin-radixin-moesin (ERM) family of proteins, forming links between...
Identification of a novel NFKB2 mutation in a patient presenting with autoimmune cytopenia and generalized granulomatous lymphadenopathy
Identification of a novel NFKB2 mutation in a patient presenting with autoimmune cytopenia and generalized granulomatous lymphadenopathy
Introduction: NF-κB proteins are transcription factors that modulate various functions of the immune system. NF-κB2 (or p1...
A novel STAT3 splice-site variant in a kindred with autosomal dominant hyper IgE syndrome
A novel STAT3 splice-site variant in a kindred with autosomal dominant hyper IgE syndrome
Background: Dominant negative STAT3 loss-of-function is the most common genetic cause of hyper-IgE syndrome (HIES). Patien...
Distribution of polyclonal hypergammaglobulinemia in different phases of chronic hepatitis B infection
Distribution of polyclonal hypergammaglobulinemia in different phases of chronic hepatitis B infection
Background: Polyclonal hypergammaglobulinemia (PHGG) is commonly associated with liver disorders and could signify an enha...
Heterogeneous phenotype of autoinflammatory disease in a patient with mutations in NOD2 and MEFV genes
Heterogeneous phenotype of autoinflammatory disease in a patient with mutations in NOD2 and MEFV genes
Background: Autoinflammatory diseases are a genetically heterogeneous group of conditions characterized by excessive activ...
Whole exome sequencing identifies causative compound heterozygous variants in PRF1 in late-onset familial hemophagocytic lymphohistiocytosis
Whole exome sequencing identifies causative compound heterozygous variants in PRF1 in late-onset familial hemophagocytic lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disease in which cells of the immune s...
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