ArticleMedicine2019
A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report.
Article in Medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).BMC immunology · 2025Pooled it
- Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.Advances in therapy · 2025Pooled it
- Phosphoinositide 3-kinase δ activity in patients with systemic lupus erythematosus.Frontiers in immunology · 2026Article
- Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).Orphanet journal of rare diseases · 2025Article
- Towards precision medicine for systemic lupus erythematosus and neuropsychiatric manifestations.Expert review of precision medicine and drug development · 2025Article
- Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus-like phenotype.Pediatric discovery · 2024Review
- Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- Transcriptomic analyses of treatment-naïve pediatric ulcerative colitis patients and exploration of underlying disease pathogenesis.Journal of translational medicine · 2023Article
- ANCA vasculitis expands the spectrum of autoimmune manifestations of activated PI3 kinase δ syndrome.Frontiers in pediatrics · 2023Review
- Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus.Genes & diseases · 2021Article
- Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.Medicine · 2020Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleGain of function (GOF) mutations in PIK3CD gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD4 lymphopenia, reduced class-switched memory B cells, lymphadenopathy, cytomegalovirus and/or epstein-Barr virus (EBV) viremia, and EBV-related lymphoma. A subset of affected patients also had elevated serum IgM. PATIENT CONCERNS: 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.
interventionsOral 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).
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