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SCI Abstract
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Abstracts of the Immunodeficiency Canada 11th PID Symposium, 7 November 2024, Banff
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Dual novel variants in CD40 leading to hyper IgM syndrome: a case report of a school-aged female with new-onset recurrent pneumonia
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Autoimmune manifestations following COVID-19 infection in two individuals with primary immunodeficiency
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Characterization of thymic architecture and lymphocyte populations in X-MAID due to an underlying pathogenic moesin mutation
Background: X-linked Moesin Associated Immunodeficiency (X-MAID) is a combined immunodeficiency caused by deficiency in th...
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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...
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Rare FLG mutation associated with severe atopy
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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...
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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...
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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...
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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...
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Abstracts of the Immunodeficiency Canada 10th PID Symposium, 19 October 2023, Ottawa
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Neurodevelopmental disorder and immunodeficiency
Background: Neurodevelopment is closely entwined with immune maturation and function during embryogenesis. While haematopo...
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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...
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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...
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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...
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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...
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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...
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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...
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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...
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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...
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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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Association between NOD2 and autoinflammation presenting as Yellow Nail Syndrome
Background: Yellow Nail Syndrome is defined as a triad of lymphedema, respiratory symptoms, and nail discolouration. The p...
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A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen
Background: Eosinophilic gastrointestinal disease (EGID) is an umbrella term for a heterogeneous group of disorders affect...
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COVID-19 treatments
Gupta A., Gonzalez-Rojas Y., Juarez E., Crespo Casal M., Moya J., Rodrigues Falci D., Sarkis E., Solis J., Zheng H., Scott...
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Case series of COVID-19 outcomes in adult patients with inborn errors of immunity
Background: Since the onset of the COVID-19 pandemic, a main challenge for clinicians and public health decision-makers ha...
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Novel heterozygous FOXN1 mutation identified following newborn screening for severe combined immunodeficiency is associated with improving immune parameters
Background: Forkhead-box protein N1 (FOXN1) plays a critical role in the proper development and function of thymic epithel...
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An unusual presentation of DiGeorge syndrome
Introduction: DiGeorge syndrome is a heterogenous disorder with various clinical presentations. Common features include th...
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CTLA4 haploinsufficiency caused by a novel heterozygous splice site mutation
Background: Cytotoxic T lymphocyte-associated antigen-4 (CTLA4) haploinsufficiency is characterized by a variety of phenot...
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COVID-19 outcomes in immunocompromised individuals: seroconversion and vaccine effectiveness
Voysey M., Clemens S.A.C., Madhi S.A., Weckx L.Y., Folegatti P.M., Aley P.K., Angus B., Baillie V.L., Barnabas S.L., Bhora...
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Case report of a novel mutation in Bruton’s tyrosine kinase gene with confirmed agammaglobulinemia and absent B lymphocytes
Background: X-linked agammaglobulinemia type 1 (XLA) is one of the most common pediatric inborn errors of immunity affecti...
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