Disorders associated with Innate Immunity
Identification of the pathogenic variant rs201139487 (607 G>C) in ELANE gene among patients with severe congenital neutropenia
Introduction: Severe congenital neutropenias (SCN) are a heterogeneous group of rare hematological
Pedigree relevance after the diagnostic of IL-12RB1 deficiency
Introduction IL-12RB1 deficiency is an inborn error of immunity (IEI), it is
Pedigree relevance after the diagnostic of IL-12RB1 deficiency Read More »
COVID-19 IN A PATIENT WITH TNTR1 DEFECT TREATED WITH NIRMATRELVIR/RITONAVIR.
Introduction: A patient with TNRT1 defect with COVID-19 infection, was treated with
COVID-19 IN A PATIENT WITH TNTR1 DEFECT TREATED WITH NIRMATRELVIR/RITONAVIR. Read More »
When inflammation becomes a TRAP
Introduction: Genetic alterations in components of inflammatory pathways can lead to autoinflammatory
When inflammation becomes a TRAP Read More »
Inflammatory Bowel Disease and Inborn Errors of Immunity. Beyond the Acronym
Inflammatory bowel disease is an autoimmune disease with unclear etiology and characterized
Inflammatory Bowel Disease and Inborn Errors of Immunity. Beyond the Acronym Read More »
Authenticity of ChatGPT-4 References on Primary Immunodeficiencies
Introduction: As artificial intelligence systems like ChatGPT-4 become integral information sources, scrutinizing
Authenticity of ChatGPT-4 References on Primary Immunodeficiencies Read More »
