ArticleJournal of clinical immunology2020
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.Advances in therapy · 2025Pooled it
- Activated PIK3CD drives marginal zone B cell development from early transitional progenitors by enhancing ADAM10 expression.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- E1021K mutation in PIK3CD gene: clinical heterogeneity and therapeutic implications in three pediatric APDS cases.Open life sciences · 2026Article
- Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).Orphanet journal of rare diseases · 2025Article
- Ang-1 and VEGF: central regulators of angiogenesis.Molecular and cellular biochemistry · 2025Review
- Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.Journal of clinical immunology · 2024Article
- Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism inFrontiers in immunology · 2024Article
- SP1 Mediated PIK3CB Upregulation Promotes Gastric Carcinogenesis.Journal of Cancer · 2024Article
- Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.Immunotherapy advances · 2024Review
- Transcriptomic analyses of treatment-naïve pediatric ulcerative colitis patients and exploration of underlying disease pathogenesis.Journal of translational medicine · 2023Article
- Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China.Journal of clinical immunology · 2022Article
- Trends in TREC values according to age and gender in Chinese children and their clinical applications.European journal of pediatrics · 2022Article
- Maximizing insights from monogenic immune disorders.Current opinion in immunology · 2021Review
- Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.Frontiers in pediatrics · 2021Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeActivated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of allele dose in this mutation.
methodsGenomic DNA from the parent-child trio was analyzed by next-generation sequencing. We performed phenotypic analyses in the patient and in Pik3cd
resultsThe patient was a girl harboring a homozygous mutation for p.E1021K in PIK3CD. At the age of 2 months, she began experiencing respiratory tract infections and lymphoproliferation, accompanied by bronchiectasis and extensive atelectasis in the lungs. She suffered from Haemophilus influenzae and Cytomegalovirus infections and experienced restricted growth and development. Whole-exome sequencing showed a region that included PIK3CD, with loss of heterozygosity (LOH) in chromosome 1 of the patient. The patient had not inherited any allele from her father in the LOH region. Copy number variation analysis showed no changes in the patient's father and the patient. Ultra-deep sequencing of genomic DNA from the patient's mother showed that the mutant allele frequency for c.G3061A was 1.64%. Thus, the presence of segmental maternal uniparental disomy and maternal gonosomal mosaicism resulted in the homozygous mutation. Lymphadenopathy, differentiation of activated T cells, and follicular B cells lymphopenia were found to be more prominent in Pik3cd
conclusionThis report showed the coexistence of uniparental disomy and mosaicism in PIK3CD. Some immunological features were seen to be allele dose-dependent in the presence of p.E1021K mutation.
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