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Article

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.

Journal of clinical immunology - 30 Sept 2025

Alajlan Huda, Al-Mazrou Amer, Alruwaili Hibah, Sumayli Safia, Almehaidib Ali, Alsaleem Khalid, Awwad Sawsan Abu, Ghebeh Hazem, Al-Alwan Monther, Alazami Anas M, Al-Mousa Hamoud

Abstract excerpt

Phosphatidylinositol 3-kinases (PI3Ks) are heterodimeric lipid kinases that are involved in a diverse array of cellular functions such as growth, metabolism, and migration. Mutations in PIK3CD, which encodes an immune-specific catalytic subunit of PI3K, cause both dominant (activating) and recessive (loss of function) immune deficiencies in humans. Here we report a family with three affected children carrying a...

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Source

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Identifiers

PMID: 41026257
DOI: 10.1007/s10875-025-01938-3
PMCID: PMC12484089

Genes

PIK3CD
CD19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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