To date, seven patients with FNIP1-associated immunodeficiency have been reported in the literature, most of whom presented typical clinical features during infancy (Deenick et al. 2020; Moreno-Corona et al. 2023; Niehues et al. 2020; Park et al. 2008; Saettini et al. 2021; Yazdani et al. 2020). The gene discussed is FNIP1; the disease is immunodeficiency disease.