In our cohort, the most aggressive ILLD course was seen in patients who had profound T-cell dysregulation defects (CTLA, NFkb1/2, and LRBA deficiencies) and in AT patients, which is in accordance with the results of previous studies (7, 21, 22, 32). The gene discussed is NFKB1; the disease is severe early-onset pulmonary alveolar proteinosis due to MARS deficiency.