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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...
Association between NOD2 and autoinflammation presenting as Yellow Nail Syndrome
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...
A novel variant in RUNX1 in a patient with refractory eosinophilic gastrointestinal disease and long-term clinical response to ketotifen
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...
COVID-19 treatments
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...
Case series of COVID-19 outcomes in adult patients with inborn errors of immunity
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...
Novel heterozygous FOXN1 mutation identified following newborn screening for severe combined immunodeficiency is associated with improving immune parameters
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...
An unusual presentation of DiGeorge syndrome
An unusual presentation of DiGeorge syndrome
Introduction: DiGeorge syndrome is a heterogenous disorder with various clinical presentations. Common features include th...
CTLA4 haploinsufficiency caused by a novel heterozygous splice site mutation
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...
COVID-19 outcomes in immunocompromised individuals: seroconversion and vaccine effectiveness
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...
Case report of a novel mutation in Bruton’s tyrosine kinase gene with confirmed agammaglobulinemia and absent B lymphocytes
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...
Novel mutation in PIK3CD affecting the Ras-binding domain
Novel mutation in PIK3CD affecting the Ras-binding domain
Introduction: The phosphoinositide 3-kinase (PI3K) pathway plays critical roles in diverse cellular processes, including d...
A novel mutation in TRAC in a patient with abnormal newborn screening for severe combined immunodeficiency
A novel mutation in TRAC in a patient with abnormal newborn screening for severe combined immunodeficiency
Background: The T cell receptor (TCR)-α chain plays a key role in TCR structure and function. Biallelic mutations in TRAC,...
Unique presentations of the post COVID-19 infection, multisystem inflammatory syndrome in children
Unique presentations of the post COVID-19 infection, multisystem inflammatory syndrome in children
Introduction: The epidemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), causing coronavirus disease 20...
Abstracts from the Immunodeficiency Canada—9th SCID Symposium, 28 October 2021
Abstracts from the Immunodeficiency Canada—9th SCID Symposium, 28 October 2021
If you have the appropriate software installed, you can download article citation data to the citation manager of you...
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