Orthognathic Surgery Considerations in a Rare Case of Activated PI3K-delta Syndrome: A Challenge in Inborn Errors of Immunity

Abstract

Background: Activated P13K-delta syndrome is an extremely rare autosomal dominant disorder characterized by both specific and nonspecific immune cell dysfunction. It commonly presents with recurrent, severe infections, autoimmune or autoinflammatory conditions, and, in some cases, neurodevelopmental abnormalities. Management and Outcome: These patients are treated with immunosuppression, stem cell transplantation and targeted therapies. Key considerations have to be made prior to surgery as to allow for informed consent and surgical outcome optimisation. These patients are at an increased risk of surgical complications including delayed wound healing and post-operative infection. We will discuss the possible managements and our considerations for infection risk. Patient Information: A 22 year old female patient with activated P13K-Delta syndrome, C1Q deficiency, IgA deficiency attending for a bi-maxillary osteotomy to correct a class III skeletal discrepancy and mandibular asymmetry. The patients IEL has resulted in COPD, Bronchiectasis and reduced FEV1 and FVC. Patients medications include long term antibiotics and steroids. This patient had a stem cell transplantation in an attempt to treat her condition, this resulted in the common complication IEL patients may be faced with of Graft-versus-host disease. Key Learning Points: From this case some key considerations with regard to maxillofacial surgery considerations in patients with challenges in inborn errors of immunity including infection risk, hydrocortisone considerations, informed consent and inter-departmental management.Copyright © 2025