Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK.
Nguyen T, et al. Among authors: deenick ek.
J Exp Med. 2023 Jun 5;220(6):e20221020. doi: 10.1084/jem.20221020. Epub 2023 Mar 21.
J Exp Med. 2023.
PMID: 36943234
Free PMC article.