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

Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...

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...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

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...

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...

IntroductionHyper-IgM syndrome (HIGM) is a rare primary immunodeficiency characterized by impaired immunoglobulin class-switch recombination, most commonly due to mutations in the CD40 ligand (CD40L) gene. Affected patie...

Primary Immunodeficiencies (PI) include more than 550 monogenic disorders presenting with recurrent infections, autoimmunity, and significant morbidity. Early molecular diagnosis is essential for guiding targeted treatme...