Discovery of APDS and its genetic basis
The first chapter covers the discovery of APDS and associated gene variants, and provides background on the PI3Kẟ signalling pathway.1/4 Next Chapter
Immune and clinical features of APDS
This chapter looks at the immunophenotype of APDS and its clinical features, such as infective complications, lymphoproliferation, autoimmunity and neurodevelopmental problems. It also considers the features of APDS subtypes (APDS1, APDS2, APDS-L) compared with Common Variable Immune Deficiency (CVID).2/4 Next Chapter
This chapter focuses on the diagnosis of APDS, including features of patient history and laboratory markers suggestive of the condition. It also looks at the role of genetic testing in definitive diagnosis, and the potential for use of flow cytometry as a screening and diagnostic tool.3/4 Next Chapter
Treatment of APDS
The final chapter discusses the treatment of APDS. As no specific treatment is available to address underlying causes of APDS, current management tends to focus on symptom control and prevention of infection. Benefits and risks of haematopoietic stem cell transplantation (HSCT), and potential targeted approaches for treatment of APDS, are also discussed.4/4 Leave Feedback
Overview & Learning Objectives
Activated PI3K delta syndrome (APDS) is a rare, progressive primary immunodeficiency (PID), sometimes referred to as an Inborn Error of Immunity (IEI). It is caused by genetic variants that lead to hyperactivity of the PI3Kδ pathway, resulting in immunodeficiency and immune dysregulation.1-3 Clinical symptoms of this life-limiting condition include severe, recurrent infections, which can lead to end organ damage such as bronchiectasis.4 APDS is also associated with lymphoproliferation, enteropathy, autoimmunity and lymphoma.4-6 Current treatment for patients with APDS is not standardised and tends to focus on symptom control and prevention of infection.4,6 The monogenic basis and hyperactive pathway at the root cause of the condition opens the potential for future targeted therapies.
For more information on APDS, please visit: www.allaboutapds.eu.
After watching this activity, participants should be better able to:
- Recognise activated PI3K delta syndrome (APDS) as a form of primary immunodeficiency (PID) or inborn error of immunity (IEI)
- Explain the relationship between the molecular pathology of APDS and its clinical manifestations
- Recognise the value of genetic testing to improve timeliness and accuracy of APDS diagnosis
Faculty & Disclosures
Dr Anita Chandra
Consultant Clinical Immunologist, Cambridge University, Cambridge, UK.
Dr Anita Chandra is a Consultant Clinical Immunologist and academic scientist, working at Cambridge University Hospitals in the UK.
Dr Anita Chandra discloses: Honoraria from Pharming Group N.V. Grant support from GSK.
- Lucas CL, et al. Nat Immunol 2014;15:88-97.
- Elkaim E, et al. J Allergy Clin Immunol 2016;138(1):210-218.
- Nunes-Santos C, et al. J Allergy Clin Immunol 2019;143(5):1676-1687.
- Coulter TI, Cant AJ. Front Immunol 2018;9:2043.
- Maccari ME, et al. Front Immunol 2018;9:543.