A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report

We report a patient who was diagnosed with systemic lupus erythematosus (SLE) at a young age and was recently found to carry heterozygous mutations in PIK3CD. The patient not only presented with recurrent sinopulmonary infections, CD4+ lymphopenia, lymphadenopathy, EBV viremia, and elevated serum IgM, but also met classification criteria of SLE based on persistent proteinuria and hematuria, leukopenia and anemia, low level of serum complement, and positive autoantibody for antinuclear antibodies. Diagnoses: Activated PI3Kδ syndrome. Interventions: Oral prednisolone and hydroxychloroquine combined with mycophenolate mofetil was given to the patient. He was currently receiving intravenous immunoglobulin per month in association with hydroxychloroquine, low-dose prednisolone, and mycophenolate mofetil. Outcomes: At present, the level of complement restored to normal, hematuria and proteinuria disappeared, and liver function returned to normal. Lessons: SLE may be a novel phenotype of GOF mutation in PI3CKD gene (GOF PIK3CD).
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research