De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

Kuhlen M, Hönscheid A, Loizou L, Nabhani S, Fischer U, Stepensky P, Schaper J, Klapper W, Siepermann M, Schuster F, et al. De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. Clin Immunol. 2015.