TABLE 3.

Main genes and proteins currently implicated in childhood interstitial lung disease (chILD) groups, their mode of transmission and the associated phenotypes

Gene (protein)	Inheritance pattern	Phenotypes
Inherited surfactant disorders
SFTPA1, SFTPA2	AD	Very rarely chILD, adult ILD and adenocarcinoma of the lung
SFTPB	AR	Neonatal respiratory distress ± PH
SFTPC	AD	Neonatal respiratory distress; ILD in infants or children, adults
ABCA3	AR	Neonatal respiratory distress ± PH; ILD in infants or children, adults
NKX2-1	AD	Brain–lung–thyroid syndrome
PAP
MARS	AR	PAP; hepatomegaly with cholestasis, anaemia, neurological impairment
CSF2RA, CSF2RB	GR and AR	PAP (infants, children, adults)
GATA2	AR	Secondary PAP; immune deficiency with myelodysplasia
Autoinflammatory disorders
TMEM173	AD	Early chILD with autoimmune and inflammatory disease ± joint and skin involvement
COPA	AD	Early chILD or DAH with autoimmune and inflammatory disease ± joint and kidney involvement
ZNFX1		chILD with severe viral infections, neurological symptoms, thrombotic microangiopathy
OAS1	AD	PAP with immunodeficiency and autoinflammation
Other chILD
FLNA	GA and GD	chILD with emphysema; cardiac abnormalities, neurological impairment; girls>boys
NHLRC2	AR	FINCA
Diffuse abnormalities of lung development
FOXF1	AD	chILD with PH; alveolar capillary dysplasia ± misalignment of pulmonary veins
TBX4, FGFR2	AD and AR	chILD with PH; acinar dysplasia
EIF2AK4	AR	chILD with PH; pulmonary haemangiomatosis; veno-occlusive disease

AR: autosomal recessive; AD: autosomal dominant; GR: gonosomal recessive; GD: gonosomal dominant; PH: pulmonary hypertension; PAP: pulmonary alveolar proteinosis; DAH: diffuse alveolar haemorrhage; FINCA: fibrosis, neurodegeneration and cerebral angiomatosis.