Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.

doi:10.1084/jem.20221020

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Article

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.

The Journal of experimental medicine - 5 Jun 2023

Nguyen Tina, Lau Anthony, Bier Julia, Cooke Kristen C, Lenthall Helen, Ruiz-Diaz Stephanie, Avery Danielle T, Brigden Henry, Zahra David, Sewell William A, Droney Luke, Okada Satoshi, Asano Takaki, Abolhassani Hassan, Chavoshzadeh Zahra, Abraham Roshini S, Rajapakse Nipunie, Klee Eric W, Church Joseph A, Williams Andrew, Wong Melanie, Burkhart Christoph, Uzel Gulbu, Croucher David R, James David E, Ma Cindy S, Brink Robert, Tangye Stuart G, Deenick Elissa K

Abstract excerpt

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a similar clinical profile to APDS1, caused by heterozygous gain-of-function (GOF) mutations in PIK3CD (encoding the PI3K p110δ catalytic subunit). While several studies have established how PIK3CD GOF leads to immune dysregulation, less is...

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PMID: 36943234
DOI: 10.1084/jem.20221020
PMCID: PMC10037341

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