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View article: A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis Open
The DN-PSMB8 p.G209R variant broadens the clinical and mechanistic PRAAS spectrum by causing 20S proteasome maturation arrest and uncovering a convergence between mitochondrial dysfunction and the ISR. Our findings implicate cytopenia in a…
View article: Autoimmune Lymphoproliferative Syndrome (ALPS): A Brazilian Single-Center Pediatric Series
Autoimmune Lymphoproliferative Syndrome (ALPS): A Brazilian Single-Center Pediatric Series Open
Background Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder typically manifesting in childhood and characterized by chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias. …
View article: The Role of IFNAR1 and IFNAR2 Genes in Antiviral Immunity: Two Case Reports
The Role of IFNAR1 and IFNAR2 Genes in Antiviral Immunity: Two Case Reports Open
Introduction The study of inborn errors of immunity (IEI) has made a crucial contribution to understanding the regulatory and effector mechanisms of immunity. Here we present 2 cases involving variants in the IFNAR1 and IFNAR2 genes, both …
View article: X-Linked CGD Carrier State in a Down Syndrome Girl
X-Linked CGD Carrier State in a Down Syndrome Girl Open
Introduction Cutaneous infections are a common concern in individuals with Down syndrome, who often present with recurrent skin lesions such as folliculitis, furunculosis, and impetigo. Similarly, carriers of hemizygous variants in the CYB…
View article: Understanding the natural history of selective IgA deficiency
Understanding the natural history of selective IgA deficiency Open
View article: A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis
A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis Open
View article: Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches
Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches Open
Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders, encompassing a diverse array of genetic defects classified as inborn errors of immunit…