Long-term follow-up of an Activated PI3K-δ Syndrome 2 patient presenting with an agammaglobulinemia phenotype

Activated phosphoinositide 3-kinase δ syndrome type 2 (APDS2) is a primary immunodeficiency caused by heterozygous loss-of-function mutations in PIK3R11,2. This mutation leads to hyperactivation of PI3K, a kinase involved in the signaling pathway of multiple receptors of the immune system3. APDS2 is characterized by the early occurrence of recurrent respiratory tract infections followed by the development of chronic benign lymphoproliferation, gastrointestinal manifestations and autoimmune cytopenias4,5.

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