A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

Publication date: Available online 9 January 2019

Source: Clinical Immunology

Author(s): Vassilios Lougaris, Manuela Baronio, Daniele Moratto, Giacomo Tampella, Luisa Gazzurelli, Mattia Facchetti, Baldasssarre Martire, Fabio Cardinale, Francesco Lanzarotto, Maria Pia Bondioni, Vincenzo Villanacci, Bodo Grimbacher, Alessandro Plebani

Abstract

This study reports on a novel activating p110δ mutation causing adult-onset hypogammaglobulinemia with lymphopenia without the classical presentation of atypical Activated phosphoinositide 3-kinase δ syndrome (ADPS-1), underlining thus the heterogeneous clinical and immunological presentation of p110δ mutated individuals and offers additional data on the role of p110δ in early and late B cell development in humans.

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