STING-associated vasculopathy with onset in infancy | TMEM173 (STING) | AD | Fibrosing ILD/emphysema, skin vascular damage, auto-inflammatory syndrome | [141] |
Copa syndrome | COPA (coatomer protein subunit alpha) | AD | Diffuse alveolar haemorrhage, ILD, inflammatory arthritis, renal disease | [142] |
Neurofibromatosis, type I | NF1 (neurofibromin) | AD | Cutaneous abnormalities, optic gliomas, fibrosing ILD/thin-walled bullae | [143] |
Hyper IgE syndrome | STAT3 | AD | Recurrent skin and respiratory infections, interstitial pneumonia, enteropathy | [144] |
Acid sphingomyelinase deficiency (Niemann–Pick, type B) | SMPD1 (sphingomyelin phosphodiesterase 1) | AR | Hepatosplenomegaly, hypotonia, ILD, dyslipidaemia and haematological abnormalities | [145] |
Gaucher disease, type I | GBA1 (glucocerebrosidase) | AR | Bone disease, hepatosplenomegaly, cytopenia, ILD | [145] |
Fabry | GLA (α-galactosidase A) | X-linked | Renal disease, angiokeratoma, cardiac and neuropathic involvement, ILD, obstructive lung disease | [145] |
Lysinuric protein intolerance | SLC7A7 | AR | Renal tubulopathy, haemophagocytic lymphohistiocytosis, pulmonary alveolar proteinosis | [146] |