The number of inborn errors of immunity is growing rapidly, and they can be challenging to diagnose given the expanding and variable clinical phenotypes. There is increasing recognition that immune dysregulation can be an initial or prominent manifestation of a substantial proportion of inborn errors of immunity. Immune dysregulation can also have a large impact on disease treatment, monitoring, and outcomes. Significant progress has been made in elucidating the molecular and cellular mechanisms underlying the immune dysregulation. There has also been tremendous improvement in the management of inborn errors of immunity, as available therapies have expanded to include biologics and small molecule inhibitors. More understanding is needed, however, to determine the use of immunomodulatory therapy in the tailored treatment of inborn errors of immunity.
The Research Topic aims to summarize current knowledge as well as highlight recent advances in the understanding of the prevalence, mechanisms, spectrum of manifestations and related complications, and management of immune dysregulation in inborn errors of immunity.
The topic editors welcome any high-quality manuscript type regarding, but not limited to, the following themes:
• Autoinflammation and autoimmunity across IEI
• Monogenic forms of autoimmunity
• Hemophagocytic lymphohistiocytosis
• Immune cytopenias in IEI
• Genetics and newborn screening for IEI
• Novel IEI characterized by immune dysregulation
• Pathophysiological mechanisms of immune dysregulation in IEI
• Management and surveillance of immune dysregulation in IEI
• Outcomes with immune dysregulation in IEI
Conflict of Interest Statement:
Dr. Eveline Wu is on the steering committee for Pharming Inc serving as an advisor for their work on the medication leniolisib being investigated for activated PI3 kinase delta syndrome (APDS)
The number of inborn errors of immunity is growing rapidly, and they can be challenging to diagnose given the expanding and variable clinical phenotypes. There is increasing recognition that immune dysregulation can be an initial or prominent manifestation of a substantial proportion of inborn errors of immunity. Immune dysregulation can also have a large impact on disease treatment, monitoring, and outcomes. Significant progress has been made in elucidating the molecular and cellular mechanisms underlying the immune dysregulation. There has also been tremendous improvement in the management of inborn errors of immunity, as available therapies have expanded to include biologics and small molecule inhibitors. More understanding is needed, however, to determine the use of immunomodulatory therapy in the tailored treatment of inborn errors of immunity.
The Research Topic aims to summarize current knowledge as well as highlight recent advances in the understanding of the prevalence, mechanisms, spectrum of manifestations and related complications, and management of immune dysregulation in inborn errors of immunity.
The topic editors welcome any high-quality manuscript type regarding, but not limited to, the following themes:
• Autoinflammation and autoimmunity across IEI
• Monogenic forms of autoimmunity
• Hemophagocytic lymphohistiocytosis
• Immune cytopenias in IEI
• Genetics and newborn screening for IEI
• Novel IEI characterized by immune dysregulation
• Pathophysiological mechanisms of immune dysregulation in IEI
• Management and surveillance of immune dysregulation in IEI
• Outcomes with immune dysregulation in IEI
Conflict of Interest Statement:
Dr. Eveline Wu is on the steering committee for Pharming Inc serving as an advisor for their work on the medication leniolisib being investigated for activated PI3 kinase delta syndrome (APDS)
