Genetic tests contributed to 15% of the final diagnoses, including SPTPC mutation (n = 3), ABCA3 mutation (n = 2), SAVI (TMEM173 mutation) (n = 3), COPA syndrome (COPA mutation) (n = 1), CGD (CYBB mutation) (n = 3), CTLA4 deficiency (CTLA4 mutation) (n = 1), STAT3 mutation (n = 1), MMA (MMACHC mutation) (n = 5), NPD type C1 (NPC1 mutation) (n = 1) and NPD type B (SMPD1 mutation) (n = 1). This evidence concerns the gene SMPD1 and autoimmune interstitial lung disease-arthritis syndrome.