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RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...

ObjectiveApproximately half of common variable immunodeficiency (CVID) patients develop debilitating and life-threatening clinical manifestations of immune dysregulation, including lymphoproliferation, cytopenias, inters...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

BackgroundPatients with acute myeloid leukemia (AML) and prolonged neutropenia are at high risk for invasive fungal infections such as fusariosis, which represents the second most common pathogenic mold infection in this...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...

IntroductionInborn errors of interferon response factors (IRFs) are a subset of monogenic inborn errors of immunity, occurring as a result of damaging variants in the IRF genes. Of these diseases, IRF4 deficiencies are a...

BackgroundOn-demand gene editing of autologous cells offers a novel therapeutic option for inborn errors of immunity (IEIs) caused by dominant-negative variants, which are often poorly addressed by conventional viral gen...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

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...

IntroductionBACH2-related immunodeficiency and autoimmunity (BRIDA) increases the risk of developing B cell lymphoma. We present a case of a patient with a known history of common variable immunodeficiency (CVID) and BAC...

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...