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ObjectiveEarly recognition of inborn errors of immunity (IEI) is critical to avoid morbidity and irreversible organ damage. Jeffrey Modell Foundation (JMF) warning signs have long guided and still guide clinical suspicio...

A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...

RELA-related disease is a rare, autosomal-dominant condition presenting with immune dysregulation and immunodeficiency. RELA encodes the p65 subunit, a component of the canonical NFκB pathway. The underlying pathogenesi...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

Tissue resident memory CD4+ T cells (TRMs) populate mucosal sites and play a critical role in local immune responses. Gut TRM cells persist for extended periods in the gut mucosa where they rapidly respond to invading pa...

IntroductionReceptor-interacting serine/threonine-protein kinase 1 (RIPK1), a cytosolic protein, plays an essential role in signaling pathways responsible for inflammation and programmed cell death. In humans, two main c...

BackgroundComplex inflammatory phenotypes in children can pose significant diagnostic challenges, particularly when clinical, histopathologic, and immunologic findings do not conform to established diagnoses. We present ...

CARMIL2 is a protein required for T cell activation, specifically for CD28 and CARMA-1/PKC coupling and NF-kB signaling. CARMIL2 deficiency has pleiotropic presentations, which can include recurrent viral and mucocutaneo...

BackgroundX-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare genetic disorder caused by pathogenic variants in the XIAP gene. It disrupts TNF-receptor signaling and NLRP3 inflammasome function, leading t...

IntroductionRelA deficiency is a recently recognized inborn error of immunity (IEI) caused by mutations in the RELA gene. RelA is a transcriptional factor in the NF-kB pathway. Deficiency of RelA leads to impaired downre...

Abstract This update to the 2019 Canadian Hereditary Angioedema (HAE) Guideline broadens its focus to include the management of patients with HAE worldwide, building on its established international framework. It has bee...

Abstract Juvenile idiopathic arthritis (JIA) is an umbrella term for a group of oligo- and poly-arthritic conditions that develop before 16 years of age. While the exact pathophysiology of JIA is still unknown, both gene...

Abstract Background The recurrence of small intestinal hemorrhage (SIH) poses a significant clinical challenge owing to the absence of reliable and accessible predictive biomarkers. This study aimed to identify a crucial...

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

Ankylosing spondylitis (AS) is a chronic inflammatory disease that primarily affects the sacroiliac joints, spine, and peripheral joints. The widespread application of biological agents has led to significant clinical im...

Background: The vedolizumab-specific clinical decision support tool (VDZ-CDST) was developed to predict the probability of a response to vedolizumab treatment in patients with Crohn’s disease (CD). Objective: This post...

X-linked inhibitor of apoptosis (XIAP) is essential for innate and adaptive immune responses, including programmed cell death inhibition, NFkB and MAPK activation, NLRP3 inflammasome activity regulation, and TNFR signali...